Anne Moncla - Publications

2008

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Mochel F, Missirian C, Reynaud R, Moncla A.
European Journal of Medical Genetics, 2008, 51:68-73.

2007

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.

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.

Sebban-Benin H, Pescatore A, Fusco F, Pascuale V, Gautheron J, Yamaoka S, Moncla A, Ursini MV, Courtois G.
Human Molecular Genetics, 2007, 16:2805-2815.

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.

Roux JC, Dura E, Moncla A, Mancini J, Villard L.
European Journal of Neuroscience, 2007, 25:1915-1922.

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG.
European Journal of Human Genetics, 2007, 15:432-440.

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

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, Philippe C.
European Journal of Medical Genetics, 2006, 49:313-322.

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.

Luciani JJ, Depetris D, Usson Y, Metzler-Guillemain C, Mignon-Ravix C, Mitchell MJ, Megarbane A, Sarda P, Sirma H, Moncla A, Feunteun J, Mattei MG.
Journal of Cell Science, 2006, 119:2518-2531.

The incidence of Rett syndrome in France.

Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L.
Pediatric Neurology, 2006, 34:372-375.

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.
European Journal of Medical Genetics, 2006, 49:9-18.

Angelman syndrome 2005: updated consensus for diagnostic criteria.

Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J.
American Journal of Medical Genetics A, 2006, 140:413-418.

2005

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.

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Mégarbané A, Moncla A, Mattéi MG.
European Journal of Human Genetics, 2005, 13:41-51.

Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.

Viemari JC, Roux JC, Tryba AK, Saywell V, Burnet H, Peña F, Zanella S, Bévengut M, Barthelemy-Requin M, Herzing LB, Moncla A, Mancini J, Ramirez JM, Villard L, Hilaire G.
Journal of Neuroscience, 2005, 25:11521-11530.

Strategies for preimplantation genetic diagnosis of Angelman syndrome caused by mutations in the UBE3A gene.

Girardet A, Moncla A, Hamamah S, Claustres M.
Reproductive Biomedicine online, 2005, 10:519-526.

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hultén M, Jonveaux P, Maraschio P, Mégarbané A, Moncla A, Viegas-Péquignot E.
Human Mutation, 2005, 25:56-63.

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.

Macrophage activation syndrome mimicking life-threatening infection in a patient with variable immunodeficiency, centromeric instability, and facial anomalies.

André N, Roquelaure B, Caillez M, Chrestian M, Moncla A, Blanco-Betancourt C, Schiff C.
Pediatrics, 2004, 114:1127.

Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.

Blanco-Betancourt CE, Moncla A, Milili M, Jiang YL, Viegas-Péquignot EM, Roquelaure B, Thuret I, Schiff C.
Blood, 2004, 103:2683-2690.

2002

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

Moncla A, Kpebe A, Missirian C, Mancini J, Villard L.
European Journal of Human Genetics, 2002, 10:86-89.

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.

Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children.

Tauber M, Barbeau C, Jouret B, Pienkowski C, Malzac P, Moncla A, Rochiccioli P.
Hormone Research, 2000, 53:279-287.

Neuropsychological phenotypes of genetic diseases.

Livet MO, Cournelle MA, Moncla A, Mancini J.
Archives de Pediatrie, 2000, 7S2:112s-113s.

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.

1999

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.

Cormier-Daire V, Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A.
Acta Paediatrica Suppl. 1999, 88:55-59.

Clinical approach to mental retardation of genetic origin.

Livet MO, Moncla A, Philip N, Chabrol B, Mancini J.
Revue Neurologique (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, Delaroziere JC, Philip N, Mattei 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, Mattei MG, Philip N, Mattei JF, Lalande M, Livet MO.
European Journal of Human Genetics, 1999, 7:131-139.

1998

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.

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG.
Journal of Medical Genetics, 1998, 35:932-938.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, Albrecht B, Passarge E, Annerén G, Blennow E, Clausen N, Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemann JM, Hertz JM, Houge G, Kuklík M, Macek M, Lacombe D, Miller K, Moncla A, López Pajares I, Patsalis PC, Petersen MB, et al.
European Journal of Human Genetics, 1998, 6:432-438.

Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses.

Malzac P, Moncla A, Pedeillier K, Vo Van C, Girardot L, Voelckel MA.
American Journal of Medical Genetics, 1998, 78:242-244.

Mutation analysis of UBE3A in Angelman syndrome patients.

Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J.
American Journal of Human Genetics, 1998, 62:1353-1360.

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V.
Nature Genetics, 1998, 19:67-69.

1997

Smith-Magenis syndrome.

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

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region.

Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P, Roëckel N, Taviaux S, Lefranc JL, Cau P, Berta P, Lalande M, Muscatelli F.
Nature Genetics, 1997, 17:357-361.

Smith-Magenis syndrome.

Lacombe D, Moncla A, Malzac P, Mattei MG, Battin J.
Archives de Pediatrie, 1997, 4:438-442.

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

Mignon C, Parente F, Stavropoulou C, Collignon P, Moncla A, Turc-Carel C, Mattei MG.
Journal of Medical Genetics, 1997, 34:217-222.

Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

MacFarlane JR, Du JS, Pepys ME, Ramsden S, Donnai D, Charlton R, Garrett C, Tolmie J, Yates JR, Berry C, Goudie D, Moncla A, Lunt P, Hodgson S, Jouet M, Kenwrick S.
Human Mutation, 1997, 9:512-518.

1996

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C.
American Journal of Medical Genetics, 1996, 64:97-106.

Cortical myoclonus in Angelman syndrome.

Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM.
Annals of Neurology, 1996, 40:39-48.

Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.

Malzac P, Biancalana V, Voelckel MA, Moncla A, Pellissier MC, Boccaccio I, Mattei JF.
European Journal of Human Genetics, 1996, 4:8-12.

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect.

Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG.
European Journal of Human Genetics, 1996, 4:88-100.

1995

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.

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S.
American Journal of Human Genetics, 1995, 56:1304-1314.

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

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

1994

Angelman syndrome.

Moncla A, Livet MO, Malzac P, Voelckel MA, Mattei MG, Mattei JF, Giraud F.
Archives de Pediatrie, 1994, 1:1118-1126.

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

Knight SJ, Voelckel MA, Hirst MC, Flannery AV, Moncla A, Davies KE.
American Journal of Human Genetics, 1994, 55:81-86.

1993

Prader-Willi syndrome: diagnostic strategy with a cytogenetic and molecular approach.

Malzac P, Moncla A, Voelckel MA, Livet MO, Girardot L, Mattei MG, Mattei JF.
Neuromuscular Disorders, 1993, 3:493-496.

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Saugier-Veber P, Abadie V, Moncla A, Mathieu M, Piussan C, Turleau C, Mattei JF, Munnich A, Lyonnet S.
American Journal of Human Genetics, 1993, 52:1040-1045.

Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome.

Moncla A, Piras L, Arbex OF, Muscatelli F, Mattei MG, Mattei JF, Fontes M.
Human Genetics, 1993, 90:657-660.

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E.
European Journal of Pediatrics, 1993, 152:75-77.

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.

Chromosomal localisation of the mouse and human peripherin genes.

Moncla A, Landon F, Mattei MG, Portier MM.
Genetical Research, 1992, 59:125-129.

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

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

Physical mapping of an Xq-proximal interstitial duplication in a male.

Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M.
Human Genetics, 1992, 88:691-694.

Molecular biology in genetic counseling of Duchenne and Becker myopathy.

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

1991

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Moncla A, Livet MO, Auger M, Mattei JF, Mattei MG, Giraud F.
Journal of Medical Genetics, 1991, 28:627-632.