Nicole Philip - Publications
2010
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, in press.
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, sous presse.
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, sous presse.
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.
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.