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Département de Génétique Médicale et de Biologie Cellulaire

Hôpital d’Enfants de La Timone

265, rue Saint-Pierre

13385 Marseille cedex 5

France


Phone : +33 (0)491 386 734


E-mail : nicole.philip (AT) ap-hm.fr

professOR - CLINICAL GENETICIST

MARSEILLE UNIVERSITY HOSPITAL

PUBLICATIONS



2017


The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.

Mortreux J, Busa T, Germain DP, Nadeau G, Puechberty J, Coubes C, Gatinois V, Cacciagli P, Duffourd Y, Pinard JM, Tevissen H, Villard L, Sanlaville D, Philip N, Missirian C.

European Journal of Human Genetics, 2017, in press.


Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinoma.

Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Côté F, Hanein S, Rosti RÖ, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A, Smahi A.

Nature Medicine, 2017, 23:1226-1233.


Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome.

Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium.

American Journal of Psychiatry, 2017, 174:1054-1063.


Parkinson’s disease associated with 22q11.2 deletion: clinical characteristics and response to treatment.

Dufournet B, Nguyen K, Charles P, Grabli D, Jacquette A, Borg M, Danaila T, Mutez E, Drapier S, Colin O, Eusebio A, Philip N, Azulay JP.

Revue de Neurologie, 2017, 173:406-410.


Treatment of comorbid bipolar disorder improves disabilities and neuropsychological functioning in DiGeorge syndrome: a case report.

Perret LC, Lodovighi MA, Perret O, Ibrahim EC, Philip N, Azorin JM, Belzeaux R.

Journal of Clinical Psychopharmacology, 2017, 37:736-738.


FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

Ovaert C, Busa T, Faure E, Missirian C, Philip N, Paoli F, Milh M, Macé L, Zaffran S.

American Journal of Medical Genetics A, 2017, 173:2489-2493.


Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.

Busa T, Jeraiby M, Clémenson A, Manouvrier S, Granados V, Philip N, Touraine R.

American Journal of Medical Genetics A, 2017, 173:3114-3117.


Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.

American Journal of Medical Genetics C, 2017, sous presse.


Antenatal prognostic factor of fetal echogenic bowel.

Ronin C, Mace P, Stenard F, Loundou A, Capelle M, Mortier I, Pellissier MC, Sigaudy S, Levy A, D'ercole C, Hoffmann P, Merrot T, Lopater J, De Lagausie P, Philip N, Bretelle F.

European Journal of Obstetrics Gynecology and Reproductive Biology, 2017, 212:166-170.


Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: a multicentric genotype-phenotype study.

Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F.

Clinical Genetics, 2017, in press.


Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score.

Busa T, Caietta E, Chabrol B, Girard N, Philip N, Missirian C.

Clinical Dysmorphology, 2017, 26:47-49.



2016


A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L.

American Journal of Medical Genetics A, 2016, 170:2103-2110.


Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

Busa T, Legendre M, Bauge M, Quarello E, Bretelle F, Bilan F, Sigaudy S, Gilbert-Dussardier B, Philip N.

Prenatal Diagnosis, 2016, 36:561-567.


Prenatal diagnosis of bowel malposition using T2-weighted fetal MRI sequences.

Kheiri M, Lesieur E, Dabadie A, Colombani M, Capelle M, Sigaudy S, Guidicelli B, Heckenroth H, Delagausie P, Pico H, Philip N, Bretelle F, Gorincour G.

Diagnostic and Interventional Imaging, 2016, 97:857-861.


A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.

Ambrosi P, Kreitmann B, Lepidi H, Habib G, Lévy N, Philip N, De Sandre-Giovannoli A.

International Journal of Cardiology, 2016, 209:317-318.


Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaeffer E, Thauvin C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.

American Journal of Medical Genetics A, 2016, 170:2847-2859.


Rare copy number variants and congenital heart defets in the 22q11.2 deletion syndrome.

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Human Genetics, 2016, 135:273-285.


Prenatal findings in cardio-facio-cutaneous syndrome.

Templin L, Baumann C, Busa T, Heckenroth H, Pouvreau N, Toutain A, Cave H, Verloes A, Sigaudy S, Philip N.

American Journal of Medical Genetics A, 2016, 170:441-445.


Large national series of patients with Xq28 duplication involving MECP2: delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Portes VD, Guibaud L.

American Journal of Medical Genetics A, 2016, 170:116-129.


The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.

European Journal of Human Genetics, 2016, 24:992-1000.


Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, El Chehadeh S, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Le Meur N, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Le Caignec C, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Van Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L.

Clinical Genetics, 2016, 89:630-635.


Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Jemaa LB, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J.

European Journal of Human Genetics, 2016, 24:611-614.



2015


Epileptic patients with de novo STXBP1 mutations: key clinical  features based on 24 cases.

Di Meglio C, Lesca G, Villeneuve N, Lacoste C, Abidi A, Cacciagli P, Altuzarra C, Roubertie A, Afenjar A, Renaldo-Robin F, Isidor B, Gautier A, Husson M, Cances C, Metreau J, Laroche C, Chouchane M, Ville D, Marignier S, Rougeot C, Lebrun M, de Saint Martin A, Perez A, Riquet A, Badens C, Missirian C, Philip N, Chabrol B, Villard L, Milh M.

Epilepsia, 2015, 56:1931-1940.


Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome.

Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M..

Human Mutation, 2015, 36:1080-1087.


Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Dieux Coeslier A, Dailland T, Lesca G, Philip N, Villard L.

American Journal of Medical Genetics A, 2015, in press.


Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

American Journal of Human Genetics, 2015, 96:753-764.


Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M.

American Journal of Human Genetics, 2015, 96:816-825.


Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szaskon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C.

Genetics in Medicine, 2015, in press.


Infectious and immunologic phenotype of MECP2 duplication syndrome.

Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.

Journal of Clinical Immunology, 2015, 35:168-181.


Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N.

European Journal of Paediatric Neurology, 2015, 19:188-192.




2014


Fetal skeletal computed tomography: when ? how ? why ?

Gorincour G, Chaumoitre K, Bourliere-Najean B, Bretelle F, Sigaudy S, D'Ercole C, Philip N, Potier A, Petit P, Panuel M.

Diagnostic and Interventional Imaging, 2014, in press.


Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.

European Journal of Human Genetics, 2014, in press.


Whole ARX gene duplication is compatible with normal intellectual development.

Popovici C, Busa T, Boute O, Thuresson AC, Perret O, Sigaudy S, Södergren T, Andrieux J, Moncla A, Philip N.

American Journal of Medical Genetics, 2014, in press.


Intragenic rearrangements in X-linked intellectual deficiency : results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L.

American Journal of Medical Genetics, 2014, 164:1991-1997.


Incidental findings on array Comparative Genomic Hybridization: detection of carrier females of dystrophinopathy without any family history.

Nguyen K, Putoux A, Busa T, Cordier MP, Sigaudy S, Till M, Chabrol B, Michel-Calemard L, Bernard R, Julia S, Malzac P, Labalme A, Missirian C, Edery P, Popovici C, Philip N, Sanlaville D.

Clinical Genetics, 2014, in press.


Severe presentation of WDR62 mutation: is there a role for modifying genetic factors ?

Poulton CJ, Schot R, Seufert K, Lequin MH, Accogli A, Annunzio GD, Villard L, Philip N, de Coo R, Catsman-Berrevoets C, Grasshoff U, Kattentidt-Mouravieva A, Calf H, de Vreugt-Gronloh E, van Unen L, Verheijen FW, Galjart N, Morris-Rosendahl DJ, Mancini GM.

American Journal of Medical Genetics, 2014, 164A:2161-2171.


New insights into genotype-phenotype correlation for GLI3 mutation.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T.

European Journal of Human Genetics, 2014, in press.


Contribution of the foetal uro-MRI in the prenatal diagnosis of uronephropathies.

Pico H, Dabadie A, Bourliere-Najean B, Philip N, Capelle M, Aschero A, Quarello E, Guys JM, Hery G, Petit P, Gorincour G.

Diagn Interv Imaging. 2014, 95:573-578.


Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, Didonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C.

Clinical Genetics, 2014, in press.


New management strategy of pregnancies at risk of Congenital Adrenal Hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

Tardy-Guidollet V, Menassa R, Costa JM, David M, Bouvattier-Morel C, Baumann C, Houang M, Lorenzini F, Philip N, Odent S, Guichet A, Morel Y

J Clin Endocrinol Metab. 2014, 99:1180-1188.




2013


Dysmorphology at a distance: results of a web-based diagnostic service.

Douzgou S, Clayton-Smith J, Gardner S, Day R, Griffiths P, Strong K; DYSCERNE expert panel.

Eur J Hum Genet. 2014, 22:327-32.


Finger creases lend a hand in Kabuki syndrome.

Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D.

Eur J Med Genet. 2013, 56:556-60.


Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue M, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk P, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor M, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron A, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L.

Clin Genet., 2013, in press.


Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Popovici C, Busa T, Missirian C, Milh M, Moncla A, Philip N.

Eur J Med Genet., 2013, in press.


French Professionals in Genetic Counselor Careers.

Cordier C, Taris N, De Pauw A, Sobol H, Philip N, Voelckel MA.

J Genet Couns., 2013, in press.


Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jarlbrzkowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, Olesen C, Skovby F, Werge TM, Templin L, Busa T, Philip N, Swillen A, Vermeesch JR, Devriendt K, Schneider M, Dahoun S, Eliez S, Schoch K, Hooper SR, Shashi V, Samanich J, Marion R, van Amelsvoort T, Boot E, Klaassen P, Duijff SN, Vorstman J, Yuen T, Silversides C, Chow E, Bassett A, Frisch A, Weizman A, Gothelf D, Niarchou M, van den Bree M, Owen MJ, Suñer DH, Andreo JR, Armando M, Vicari S, Digilio MC, Auton A, Kates WR, Wang T, Shprintzen RJ, Emanuel BS, Morrow BE..

Am J Hum Genet., 2013, 92:439-447.


Phenotypic spectrum of simpson-golabi-behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.

Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, VAN Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, VAN DEN Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A.

Am J Med Genet C Semin Med Genet., 2013, 163:92-105.


Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome.

Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han LQ, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.

J Pediatr., 2013, in press.


Novel PTEN germline mutation in a family with mild phenotype : difficulties in genetic counseling.

Busa T, Chabrol B, Perret O, Longy M, Philip N.

Gene, 2013, 512:194-197.



2012


Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium.

American Journal of Medical Genetics A, 2012,158A:2781-2787.


Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I.

Human Mutation, 2012,33:64-72.


Diagnostic investigations for an unexplained developmental disability.

Verloes A, Héron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V; Réseau DéfiScience.

Archives de Pédiatrie, 2012,19:194-207.


Update on Kleefstra syndrome.

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T.

Molecular Syndromology, 2012,2:202-212.



2011


Genotype and Cardiovascular Phenotype Correlations with TBX1 in 1,022 Velo-Cardio-Facial/DiGeorge/22q11.2 Deletion Syndrome Patients.

Guo T, McGinn DM, Blonska A, Shanske A, Bassett A, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; the International Chromosome 22q11.2 Consortium.

Human Mutation, 2011, in press.


Auxological Evaluation in Patients with a 22q11.2 Microdeletion Syndrome: Normal Prevalence of Obesity and Neonatal Length and Gender Influence on Body Mass Inex Evolution.

Reynaud R, Derain-Court J, Braunstein D, Veyrat M, Gaudart J, Giuliano F, Philip N.

Hormone Research in Paediatrics, 2011, in press.


De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

Lesca G, Till M, Labalme A, Vallee D, Hugonenq C, Philip N, Edery P, Sanlaville D.

American Journal of Medical Genetics A, 2011, in press.


Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.

Philip N, Bassett A.

Behavioural Genetics, 2011, 41:403-412.


Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; The International 22q11.2 Deletion Syndrome Consortium.

The Journal of Pediatrics, 2011, 159:332-339.


Laterality preference and cognition : cross-syndrome comparison of patients with trisomy 21 (Down), del7q11.23 (Williams-Beuren) and del22q11.2 (DiGeorge or Velo-Cardio-Facial) syndromes.

Carlier M, Desplanches AG, Philip N, Stefanini S, Vicari S, Volterra V, Deruelle C, Fisch G, Doyen AL, Swillen A.

Behavioural Genetics, 2011, 41:413-422.


Decision making in termination of pregnancy : a French perspective.

Gorincour G, Tassy S, Payot A, Philip N, Malzac P, Harlé JR, Mattei JF, Le Coz P.

Gynecologie Obstétrique et Fertilité, 2011, 39:198-204.


Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, Pontual L.

European Journal of Human Genetics, 2011, 19:602-606.


Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J.

European Journal of Medical Genetics, 2011, 54:144-151.



2010


Fetal dysmorphology : a practical approach in utero.

Philip N, Quarello E, Gorincour G, Sigaudy S.

Gynecologie Obstétrique et Fertilité, 2010, 38:677-685.


Combined screening for Down syndrome in Marseille multidisciplinary prenatal centers.

Ivorra-Deleuze D, Bretelle F, Heinemann M, Lévy A, Toga C, Philip N, Gamerre M, Boubli L, D'Ercole C.

Gynecologie Obstétrique et Fertilité, 2010, 38:786-788.


Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

Bretelle F, Beyer L, Pellissier MC, Missirian C, Sigaudy S, Gamerre M, D'Ercole C, Philip N.

European Journal of Medical Genetics, 2010, 53:367-370.


Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.

El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L.

Journal of Medical Genetics, 2010, 47:549-553.


Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y.

Human Mutation, 2010, 31:284-294.


Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Schwinger E, Devriendt K, Rauch A, Philip N.

European Journal of Human Genetics, 2010, 18(9).


Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H.

Human Genetics, 2010, 127:583-593.


H syndrome: novel and recurrent mutations in SLC29A3.

Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A.

British Journal of Dermatology, 2010, 162:1132-1134.


Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

Pérez B, Mechinaud F, Galambrun C, Ben Romdhane N, Isidor B, Philip N, Derain-Court J, Cassinat B, Lachenaud J, Kaltenbach S, Salmon A, Désirée C, Pereira S, Menot ML, Royer N, Fenneteau O, Baruchel A, Chomienne C, Verloes A, Cavé H.

Journal of Medical Genetics, 2010, 47:686-691.


Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients.

Katzaki E, Morin G, Pollazzon M, Papa FT, Buoni S, Hayek J, Andrieux J, Lecerf L, Popovici C, Receveur A, Mathieu-Dramard M, Renieri A, Mari F, Philip N.

American Journal of Medical Genetics, 2010, 152A:1711-1717.


Deletion of YWHAE in a patient with periventricular heterotopias and marked corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.

Journal of Medical Genetics, 2010, 47:132-136.


Duplications of the critical Rubinstein Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K.

Journal of Medical Genetics, 2010, 47:155-161.



2009


The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

Kirk EP, Malaty-Brevaud V, Martini N, Lacoste C, Levy N, Maclean K, Davies L, Philip N, Badens C.

Clinical Genetics, 2009, 75:301-303.


LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J, Beldjord C, Bahi-Buisson N.

Archives of Neurology, 2009, 66:1007-1015.


Bilateral periventricular nodular heterotopia in France : frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.

Sole G, Coupry I, Rooryck C, Guérineau E, Martins F, Devés S, Hubert C, Souakri N, Boute O, Marchal C, Olivier-Faivre L, Landré E, Debruxelles S, Dieux-Coesler A, Boulay C, Chassagnon S, Michel V, Routon MC, Toutain A, Philip N, Lacombe D, Villard L, Arveiler B, Goizet C.

Journal of Neurology Neurosurgery and Psychiatry, 2009, 80:1394-1398.



2008


The Case: Hypocalcemia, chronic renal failure and dysmorphism.

Burtey S, Dussol B, Philip N, Berland Y.
Kidney International 2008, 74:1495-:1496.


Hypocalcemia and microdeletion 22q11.2.

Philip N, Reynaud R.
Archives de Pediatrie 2008, 15:648-649.


Molecular study of 33 families with Fraser syndrome new data and mutation review.

van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ.
American Journal of Medical Genetics 2008, 146A:2252-2257.


TCF4 deletions in Pitt-Hopkins syndrome.

Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Lambert JC, Philip N, Sarda P, Villard L, Goossens M, Moncla A.
Human Mutation, 2008, 29:E242-251.


Refinement of cortical dysgeneses associated with TUBA1A mutations: perisylvian pachygyria and dysgenesis of the interal capsule are specific features of the TUBA1A lissencephaly spectrum.

Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.
Journal Of Medical Genetics, 2008, 45:647-653.



2007


ZDHHC8 Single Nucleotide Polymorphism rs175174 is not associated with psychiatric features of the 22q11 Deletion Syndrome or Schizophrenia.

Demily C, Legallic S, Bou J, Houy-Durand E, Van Amelsvoort T, Zinkstok J, Manouvrier-Hanue S, Vogels A, Drouin-Garraud V, Philip N, Philippe A, Heron D, Sarda P, Petit M, Thibaut F, Frebourg T, Campion D.
Psychiatry Genetics 2007, 17:311-312.


A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.

Moncla A, Missirian C, Cacciagli P, Balzamo E, Legeai-Mallet L, Jouve JL, Chabrol B, Le Merrer M, Plessis G, Villard L, Philip N.
Human Mutation, 2007, 28:1183-1188.


Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF.
Human Mutation, 2007, 28:781-789.


Feasibility of fetal cardiac magnetic resonance imaging: preliminary experience.

Gorincour G, Bourliere-Najean B, Bonello B, Fraisse A, Philip N, Potier A, Kreitmann B, Petit P.
Ultrasound in Obstetrics and Gynecology, 2007, 29:105-108.


Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Breviere GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gerard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D.
Human Molecular Genetics, 2007, 16:83-91.


Truncation of NHEJ1 in a patient with polymicrogyria.

Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L.
Human Mutation, 2007, 28:356-364.



2006


Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N.
Clinical Genetics, 2006, 70:57-62.


Behavioral and temperamental features of children with Costello syndrome.

Galera C, Delrue MA, Goizet C, Etchegoyhen K, Taupiac E, Sigaudy S, Arveiler B, Philip N, Bouvard M, Lacombe D.
American Journal of Medical Genetics, 2006, 140:968-974.


A novel homozygous MMP2 mutation in a family with Winchester syndrome.

Rouzier C, Vanatka R, Bannwarth S, Philip N, Coussement A, Paquis-Flucklinger V, Lambert JC.
Clinical Genetics, 2006, 69:271-276.


Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report.

Fayol L, Garcia P, Denis D, Philip N, Simeoni U.
American Journal of Perinatalogy, 2006, 23:197-200.


Genotype-phenotype correlation in Costello syndrome; HRAS mutation analysis in 43 cases.

Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden T, O'sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarrell O, McCann E, Donnai D, Stewart F, Hennekam R, Cave H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G.
Journal of Medical Genetics, 2006, 43:401-405.



2005


Tetra-amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes.

Krahn M, Julia S, Sigaudy S, Liprandi A, Bernard R, Gonnet K, Heuertz S, Bonaventure J, Chau C, Fredouille C, Levy N, Philip N.
Clinical Genetics, 2005, 68:558-560.


Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ.
Nature Genetics, 2005, 37:520-525.


Delineation of the clinical phenotype associated with OPHN-1 mutations based on the clinical and neuropsychological evaluation of three families.

Chabrol B, Girard N, NGuyen K, Carlier M, Gérard A, Villard L, Philip N.
American Journal of Medical Genetics, 2005, 138:314-317.


Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depetris D, Mattei MG, Philip N, Levy N.
Journal of Medical Genetics, 2005, 42:253-259.


Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.

Philip N, Colleaux L, Sigaudy S, Attie-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G.
American Journal of Medical Genetics, 2005, 134:39-44.


A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

Giuliano F, Collignon P, Paquis-Flucklinger V, Bardot J, Philip N.
American Journal of Medical Genetics, 2005, 132:222.


Further delineation of Kabuki syndrome in 48 well-defined new individuals.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE.
American Journal of Medical Genetics, 2005, 132:265-272.



2004


Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: Evidence by microarray CGH.

Moncla A, Missirian C, Philip N, Marlin S.
American Journal of Medical Genetics, 2004, 131:314-317.


Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Voelckel MA, Girardot L, Giusiano B, Lévy N, Philip N.
Annals of Genetics, 2004, 47:235-240.


Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).

Dussol B, Ceballos-Picot I, Aral B, Castera V, Philip N, Berland Y.
Journal of Inherited Metabolic Disorders, 2004, 27:543-545.


Andersen syndrome: a particular form of paralysis with cardiac dysrhythmia.

Pouget J, Philip N, Faugère G, Pellissier JF.
Revue de Neurologie, 2004, 160:S38-S42.


Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Giuliano F, David A, Edery P, Sigaudy S, Bonneau D, Cormier-Daire V, Philip N.
American Journal of Medical Genetics, 2004, 126:99-103.


Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J.
American Journal of Human Genetics, 2004, 74:761-764.


Progressive spastic paraplegia as a presentation of oculodentodigital syndrome.

Nguyen K, Philip N, Suchet L, Azulay JP, Pouget J.
Revue de Neurologie, 2004, 160:83-85.



2003


MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.

Nguyen K, Sigaudy S, Philip N.
American Journal of Medical Genetics, 2003, 121:109-112.


Screening for genetic disorders.

Philip N.
Childs Nervous System, 2003, 19:436-439.


Is growth hormone treatment beneficial or harmful in Costello syndrome ?

Kerr B, Einaudi MA, Clayton P, Gladman G, Eden T, Saunier P, Geneviève D, Philip N.
Journal of Medical Genetics, 2003, 40:e74.


Is the locus for Costello syndrome on 11p ?

Kerr B, Mucchielli ML, Sigaudy S, Fabre M, Saunier P, Voelckel MA, Howard E, Elles R, Eden TO, Black GC, Philip N.
Journal of Medical Genetics, 2003, 40:469-471.


Comparison between direct clinical and digital photogrammetric measurements in patients with 22q11 microdeletion.

Guyot L, Dubuc M, Richard O, Philip N, Dutour O.
International Journal of Oral and Maxillofacial Surgery, 2003, 32:246-252.


Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L.
Journal of Medical Genetics, 2003, 40:441-446.


Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Mégarbané A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ.
Nature Genetics, 2003, 34:203-208.


Value of fetal skeletal radiographs in the diagnosis of fetal death.

Bourlière-Najean B, Russel AS, Panuel M, Piercecchi-Marti MD, Sigaudy S, Fredouille C, Petit P, Philip N, Devred P.
European Radiology, 2003, 13:1046-1049.


CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.

Granel B, Philip N, Serratrice J, Ene N, Grateau G, Dode C, Cuisset L, Disdier P, Berbis P, Delpech M, Weiller PJ.
Dermatology, 2003, 206:257-259.


Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.

Cormier-Daire V, Delezoide AL, Philip N, Marcorelles P, Casas K, Hillion Y, Faivre L, Rimoin DL, Munnich A, Maroteaux P, Le Merrer M.
Journal of Medical Genetics, 2003, 40:195-200.



Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis.

Scimeca JC, Quincey D, Parrinello H, Romatet D, Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF.
Human Mutation, 2003, 21:151-157.



2002


Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome.

Soulier M, Sigaudy S, Chau C, Philip N.
Prenatal Diagnosis, 2002, 22:567-568.


Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.

Bernard R, Boyer A, Nègre P, Malzac P, Latour P, Vandenberghe A, Philip N, Lévy N.
European Journal of Human Genetics, 2002, 10:297-302.


Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas.

Farra C, Piquet C, Guillaume M, D'Ercole C, Philip N.
Fetal Diagnosis and Therapy, 2002, 17:236-239.


Craniofacial anthropometric patterns in genetic facial dysmorphism: methodology and applications.

Guyot L, Richard O, Philip N, Dutour O.
Revue de Stomatologie et de Chirurgie Maxillofaciale, 2002, 103:114-119.


Re: familial multiple myeloma: a family study and review of the literature.

Sobol H, Vey N, Sauvan R, Philip N, Noguchi T, Eisinger F.
Journal of the National Cancer Institute, 2002, 94:461-462.



2001


Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S.
American Journal of Human Genetics, 2001, 69:1370-1377.


Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin ?

Tsimaratos M, Kone-Paut I, Divry P, Philip N, Chabrol B.
Journal of Inherited Metabolic Disorders, 2001, 24:413-414.


Animal models of craniofacial dysmorphisms.

Philip N.
Archives de Pédiatrie, 2001, S2:388s-389s.


Molecular genetics of Williams' syndrome.

Philip N.
Archives de Pédiatrie, 2001, S2:353s-354s.


Craniofacial anthropometric analysis in patients with 22q11 microdeletion.

Guyot L, Dubuc M, Pujol J, Dutour O, Philip N.
American Journal of Medical Genetics, 2001, 100:1-8.


Wolf-Hirschhorn (4P-) syndrome in adults.

Marcelis C, Schrander-Stumpel C, Engelen J, Schoonbrood-Lenssen A, Willemse A, Beemer F, Sigaudy S, Missirian C, Philip N, Fryns JP.
Genetic Counselling, 2001, 12:35-48.


Expression of sexual dimorphism in the fetal pelvic girdle.

Merrot T, Panuel M, Bourlière B, Kathia C, Philip N, Dutour O.
Comptes-rendus de l'Académie des Sciences Série III, 2001, 324:137-141.



2000


Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

Missirian C, Moncla A, Voelckel MA, Ravix V, Philip N.
American Journal of Medical Genetics, 2000, 95:358-360.


Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.

Sigaudy S, Vittu G, David A, Vigneron J, Lacombe D, Moncla A, Flori E, Philip N.
European Journal of Pediatrics, 2000, 159:139-142.


Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

Chauve X, Missirian C, Malzac P, Girardot L, Guys JM, Louis C, Philip N, Voelckel MA.
American Journal of Medical Genetics, 2000, 95:10-12.


Charcot Marie Tooth disease: exacerbation in pregnancy.

Gastaut JL, Benaim J, Livet MO, Philip N.
Revue de Neurology, 2000, 156:890-891.


Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: a variant of Bazex-Dupre-Christol syndrome.

Andréani V, Richard M, Folchetti G, Varennes S, Philip N, Grob JJ.
Annales de Dermatologie et de Vénéréologie, 2000, 127:285-288.


Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Bernard R, Labelle V, Nègre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N.
European Journal of Human Genetics, 2000, 8:229-235.


Fetoplacental chromosomal discrepancy.

Farra C, Giudicelli B, Pellissier MC, Philip N, Piquet C.
Prenatal Diagnosis, 2000, 20:190-193.



1999


Epilepsy in an adult with chromosome 22q11 micro-deletion.

Alla P, Philip N, Azulay JP, Attarian S, Pouget J.
Revue de Neurologie (Paris), 1999, 155:967-970.


Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C.
Human Mutation, 1999, 14:377-386.


Clinical approach to mental retardation of genetic origin.

Livet MO, Moncla A, Philip N, Chabrol B, Mancini J.
Revue de Neurologie (Paris), 1999, 155:593-595.


Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.

Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delarozière JC, Philip N, Mattéi JF.
Journal of Medical Genetics, 1999, 36:554-560.


Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.

Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattéi MG, Philip N, Mattéi JF, Lalande M, Livet MO.
European Journal of Human Genetics, 1999, 7:131-139.


Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontès M.
Journal of Medical Genetics, 1999, 36:183-186.



1998


Prenatal ultrasonographic findings in Proteus syndrome.

Sigaudy S, Fredouille C, Gambarelli D, Potier A, Cassin D, Piquet C, Philip N.
Prenatal Diagnosis, 1998, 18:1091-1094.


Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.

Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N.
Clinical Dysmorphology, 1998, 7:257-262.


Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Aymé S, Philip N.
American Journal of Medical Genetics, 1998, 80:16-24.


Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Henocq A, Heron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T.
Human Mutation , 1998, 12:259-266.


Constitutional balanced pericentric inversions of chromosomes X, 2, and 5 in myeloid malignancies.

Mozziconacci MJ, Sobol H, Philip N, Stoppa AM, Brunel V, Granel B, Blaise D, Sainty D, Birnbaum D, Lafage-Pochitaloff M.
Cancer Genetics and Cytogenetics, 1998, 107:28-31.


Animal models of congenital malformations.

Philip N.
Archives de Pédiatrie, 1998, S2:90s-92s.


Genetics of agenesis of the corpus callosum.

Philip N, Chabrol B, Lethel V.
Neurochirurgie, 1998, 44S1:99-101.


Physiopathogenic investigations in a case of familial stiff-skin syndrome.

Richard MA, Grob JJ, Philip N, Rey J, Chamson A, Mège JL, Andrac L, Faure F, Basseres N, Bonerandi JJ.
Dermatology, 1998, 197:127-131.


Renal and retinal involvement in the Sensenbrenner syndrome.

Tsimaratos M, Sarles J, Sigaudy S, Philip N.
American Journal of Medical Genetics, 1998, 77:337.


CHARGE syndrome: report of 47 cases and review.

Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S.
American Journal of Medical Genetics, 1998, 76:402-409.


Neonatal death in Marshall-Smith syndrome.

Chatel C, Maazoul F, Sigaudy S, Fredouille C, Aymé S, Philip N.
Genetic Counselling, 1998, 9:15-18.


Costello syndrome.

Philip N, Sigaudy S.
Journal of Medical Genetics, 1998, 35:238-240.


About familial interstitial nephritis and retinitis pigmentosa.

Tsimaratos M, Sigaudy S, Philip N, Sarles J.
Nephrology Dialysis Transplantation, 1998, 13:522.



1997


Smith-Magenis syndrome.

Livet MO, Moncla A, Delobel B, Croquette MF, Philip N, Vallée L.
Archives de Pédiatrie, 1997, 4:1231-1237.


Chronic renal failure and cranioectodermal dysplasia: a further step.

Tsimaratos M, Berard E, Sigaudy S, Almahana T, Delarue A, Roquelaure B, Costet C, Antignac C, Gubler MC, Picon G, Philip N, Sarles J.
Pediatric Nephrology, 1997, 11:785-786.


Goosecoid-like sequences and the smallest region of deletion overlap in DiGeorge and velocardiofacial syndromes.

Pragliola A, Jurecic V, Chau CK, Philip N, Baldini A.
American Journal of Human Genetics, 1997, 61:1456-1459.


Prenatal diagnosis of 22q11 microdeletion.

Levy-Mozziconacci A, Piquet C, Heurtevin PC, Philip N.
Prenatal Diagnosis, 1997, 17:1033-1037.


Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ.
Journal of Medical Genetics, 1997, 34:798-804.


Stuve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N.
American Journal of Medical Genetics, 1997, 72:222-226.


Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

Ayme S, Philip N.
American Journal of Medical Genetics, 1997, 70:333-335.


Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11 ?

Levy A, Michel G, Lemerrer M, Philip N.
American Journal of Medical Genetics, 1997, 69:356-359.



1996


Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A.
Clinical Genetics, 1996, 50:548-550.


(18q) in amniotic and fetal cells with a normal karyotype in direct chorionic villus sampling: cytogenetics and pathology.

Levy-Mozziconacci A, Piquet C, Scheiner C, Adrai J, Potier A, Pelissier MC, Philip N.
Prenatal Diagnosis, 1996, 16:1156-1159.


Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients.

Levy-Mozziconacci A, Lacombe D, Leheup B, Wernert F, Rouault F, Philip N.
Archives de Pédiatrie, 1996, 3:761-768.


Prevalence of 22q11 microdeletion.

Tezenas Du Montcel S, Mendizabai H, Ayme S, Levy A, Philip N.
Journal of Medical Genetics, 1996, 33:719.


Oral-facial-digital syndrome with retinal abnormalities: report of a new case.

Sigaudy S, Philip N, Gire C, Chabrol B.
American Journal of Medical Genetics, 1996, 61:193-194.


Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.

Ayme S, Philip N.
Clinical Dysmorphology, 1996, 5:55-60.


The pediatrician facing the human genome project.

Philip N.
Archives de Pédiatrie, 1996, S1:346s-347s.



1995


Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.

Levy A, Demczuk S, Aurias A, Depetris D, Mattei MG, Philip N.
Human Molecular Genetics, 1995, 4:2417-2419.


Possible homozygous Waardenburg syndrome in a fetus with exencephaly.

Ayme S, Philip N.
American Journal of Medical Genetics, 1995, 59:263-265.


Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.

Demczuk S, Levy A, Aubry M, Croquette MF, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau GA, Thomas G.
Human Genetics, 1995, 96:9-13.


A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

Gilbert-Dussardier B, Bonneau D, Gigarel N, Le Merrer M, Bonnet D, Philip N, Serville F, Verloes A, Rossi A, Ayme S.
American Journal of Human Genetics, 1995, 56:542-544.


Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, Choux M.
Clinical Dysmorphology, 1995, 4:347-351.


Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Moncla A, Philip N, Mattéi JF.
Journal of Medical Genetics, 1995, 32:245-246.



1994


Clinical and molecular study of DiGeorge sequence.

Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, Depetris D, Mattei MG, Philip N.
European Journal of Pediatrics, 1994, 153:813-820.


Fetal abnormalities detected by sonography in low-risk pregnancies: discrepancies between pre- and post-termination findings.

Julian-Reynier C, Macquart-Moulin G, Philip N, Scheiner C, Potier A, Gambarelli D, Ayme S.
Fetal Diagnosis and Therapy, 1994, 9:310-320.


Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

Souied E, Gerber S, Rozet JM, Bonneau D, Dufier JL, Ghazi I, Philip N, Soubrane G, Coscas G, Munnich A.
Human Molecular Genetics, 1994, 3:1433-1434.


The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, Konig R, Philip N, Rizzo R, Schrander J, Pfeiffer L.
European Journal of Pediatrics, 1994, 153:438-445.


Impact of prenatal diagnosis by ultrasound on the prevalence of congenital anomalies at birth in southern France.

Julian-Reynier C, Philip N, Scheiner C, Aurran Y, Chabal F, Maron A, Gombert A, Ayme S.
Journal of Epidemiology and Community Health, 1994, 48:290-296.



1993


Costello syndrome and facio-cutaneous-skeletal syndrome.

Philip N, Mancini J.
American Journal of Medical Genetics, 1993, 47:174-175.


Fetal karyotype from cystic hygroma fluid: diploid/tetraploid mosaicism.

Piquet C, Gamerre M, Levy A, Scheiner C, Philip N.
Prenatal Diagnosis, 1993, 13:770-771.


Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N.
Pediatric Neurology, 1993, 9:243-246.


Walker-Warburg syndrome: a report of 3 cases.

Denis D, Gambarelli D, Luciani A, Ayme S, Philip N, Saracco JB.
Ophthalmologica, 1993, 207:113-116.



1992


Cerebrofaciothoracic dysplasia: a new family.

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F.
Journal of Medical Genetics, 1992, 29:497-499.


Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Philip N, Meinecke P, David A, Dean J, Aymé S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D.
Clinical Dysmorphology, 1992, 1:63-77.


Molecular biology in genetic counseling of Duchenne and Becker myopathy.

Philip N, Voelckel MA, Girardot L, Lambert JC, Moncla A, Mattéi JF, Giraud F.
Pédiatrie, 1992, 47:821-828.


Prenatal diagnosis of Fryns' syndrome.

Pellissier MC, Philip N, Potier A, Scheiner C, Ayme S, Mattei JF, Giraud F.
Prenatal Diagnosis, 1992, 12:299-303.


Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, Gilgenkrantz S, Philip N, Chauvet ML, Dumez Y.
Journal of Medical Genetics, 1992, 29:171-174.


Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome.

Collignon P, Philip N, Simonin G, Mattei JF, Giraud F.
Genetic Counselling, 1992, 3:221-222.


Cranioectodermal dysplasia with sagittal craniosynostosis (Sensenbrenner's syndrome): case report and review of the literature.

Genitori L, Lang D, Philip N, Cavalheiro S, Lena G, Choux M.
British Journal of Neurosurgery, 1992, 6:601-606.



1991


Epidemiological study of congenital diaphragmatic defects with special reference to aetiology.

Philip N, Gambarelli D, Guys JM, Camboulives J, Ayme S.
European Journal of Pediatrics, 1991, 150:726-729.


Chromosomal instability in two siblings with Dubowitz syndrome.

Thuret I, Michel G, Philip N, Hairion D, Capodano AM, Perrimond H.
British Journal of Haematology, 1991, 78:124-125.


Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Ayme S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J.
Journal of Medical Genetics, 1991, 28:297-303.


Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.

Voelckel MA, Pellissier MC, Piquet C, N'Guyen C, Boccaccio I, Philip N, Mattei JF.
American Journal of Medical Genetics, 1991, 38:374-377.



1990


The usefulness of the level of alpha-fetoprotein (AFP) and electrophoresis of amniotic acetylcholinesterase for the detection of selected congenital malformations.

Lemonnier MC, Julian C, Ayme S, Philip N, Voeckel MA, Gamerre M, Mattei JF.
J Gynecol Obstet Biol Reprod, 1990, 19:280-284.



1989


Linkage studies in Emery-Dreifuss muscular dystrophy.

Paquis V, Philip N, Voelckel MA, Pouget J, Lemieux B, Mattei JF, Giraud F.
Journal de Génétique Humaine, 1989, 37:127-132.


Fryns syndrome: report on 8 new cases.

Ayme S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D.
Clinical Genetics, 1989, 35:191-201.


Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

Voelckel MA, Philip N, Piquet C, Pellissier MC, Oberle I, Birg F, Mattei MG, Mattei JF.
Human Genetics, 1989, 81:353-357.



1988


Achondroplasia in sibs of normal parents.

Philip N, Auger M, Mattei JF, Giraud F.
Journal of Medical Genetics, 1988, 25:857-859.


Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

Voelckel MA, Mattei MG, N'Guyen C, Philip N, Birg F, Mattei JF.
Human Genetics, 1988, 80:375-378.


Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.

Pellissier MC, Laffage M, Philip N, Passage E, Mattei MG, Mattei JF.
Human Genetics, 1988, 80:277-281.


The acrocallosal syndrome.

Philip N, Apicella N, Lassman I, Ayme S, Mattei JF, Giraud F.
European Journal of Pediatrics, 1988, 147:206-208.


Balanced chromosome rearrangements with abnormal phenotype.

Philip N, Mattei MG, Pellissier MC, Mattei JF, Giraud F.
Journal de Génétique Humaine, 1988, 36:37-43.


Marshall syndrome. 2 new cases.

Nguyen J, Philip N, Arnaud JP, Sibille G, Tisne C, James F.
Archives Françaises de Pédiatrie, 1988, 45:49-51.


The Beals-Hecht syndrome (congenital contractural arachnodactyly) revealed in a neonate.

Philip N, Garcia-Meric P, Wernert F.
Pédiatrie, 1988, 43:609-612.



1987


Monosomy 21: a new case confirmed by in situ hybridization.

Pellissier MC, Philip N, Voelckel-Baeteman MA, Mattei MG, Mattei JF.
Human Genetics, 1987, 75:95-96.



1985


Small supernumerary chromosomes.

Mattei JF, Philip N, Mattei MG, Giraud F.
Journal de Génétique Humaine, 1985, 33:389-396.


Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7.

Baeteman MA, Philip N, Mattei MG, Mattei JF.
Clinical Genetics, 1985, 27:564-569.


DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome.

Mattei MG, Philip N, Passage E, Moisan JP, Mandel JL, Mattei JF.
Human Genetics, 1985, 69:268-271.



1984


Three new cases of partial monosomy 21 resulting from one ring 21 chromosome and two unbalanced reciprocal translocations.

Philip N, Baeteman MA, Mattei MG, Mattei JF.
European Journal of Pediatris, 1984, 142:61-64.



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