A. Moncla

发表

Angelman syndrome 2005: Updated consensus for diagnostic criteria

A. Beaudet, J. Summers, J. Clayton-Smith, 2006, American journal of medical genetics. Part A.

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

J. Armstrong, A. Roche, J. Nectoux, 2009, Journal of Medical Genetics.

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

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Clinical Heterogeneity in 16 Patients with inv dup 15 Chromosome: Cytogenetic and Molecular Studies, Search for an Imprinting Effect

M. Mattéi, M. Mattei, A. Moncla, 1996, European journal of human genetics : EJHG.

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

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

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

M. Mattei, B. Delobel, A. Moncla, 1998, Journal of medical genetics.

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

F. Mochel, A. Moncla, R. Reynaud, 2008, European journal of medical genetics.

Smith-Magenis syndrome

L. Vallée, N. Philip, B. Delobel, 2019, Definitions.

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

A. Moncla, C. Barbeau, C. Pienkowski, 2000, Hormone Research in Paediatrics.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

P. Rump, L. Faivre, C. Thauvin-Robinet, 2011, Journal of Medical Genetics.

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

A. Munnich, H. Cavé, A. Verloes, 2009, European Journal of Human Genetics.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

J. Thevenon, L. Faivre, C. Philippe, 2012, Journal of Medical Genetics.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

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

M. Mattei, C. Turc‐Carel, A. Moncla, 1997, Journal of medical genetics.

Truncation of NHEJ1 in a patient with polymicrogyria

N. Philip, D. Figarella-Branger, S. Lindsay, 2007, Human mutation.

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

P. Auquier, N. Philip, M. Mattei, 1999, European Journal of Human Genetics.

[Angelman syndrome].

M. Mattei, A. Moncla, P. Malzac, 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

M. Mattéi, A. Moncla, P. Malzac, 1993, Neuromuscular Disorders.

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

N. Philip, M. Mattei, A. Moncla, 1992, Human Genetics.

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

M. Mattei, A. Moncla, M. Fontès, 1993, Human Genetics.

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

F. Rivier, D. Wieczorek, I. Touitou, 2013, European Journal of Human Genetics.

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

D. Lacombe, L. Faivre, C. Thauvin-Robinet, 2012, American journal of medical genetics. Part A.

Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships

H. Van Esch, G. Matthijs, T. Bienvenu, 2012, American journal of medical genetics. Part A.

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

N. Philip, L. Villard, A. Moncla, 2007, Human mutation.

Chromosomal localisation of the mouse and human peripherin genes.

M. Mattei, A. Moncla, M. Portier, 1992, Genetical research.

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

G. Courtois, F. Fusco, S. Yamaoka, 2007, Human molecular genetics.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

E. Blennow, S. Kitsiou‐Tzeli, A. Tsezou, 1998, European Journal of Human Genetics.

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

M. Claustres, A. Moncla, S. Hamamah, 2005, Reproductive biomedicine online.

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

A. Moncla, P. Malzac, M. Voelckel, 1998, American journal of medical genetics.

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

L. Villard, A. Moncla, C. Missirian, 2002, European Journal of Human Genetics.

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

A. Toutain, N. Philip, S. Aymé, 1998, American journal of medical genetics.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

N. Le Meur, C. Bénéteau, C. Yardin, 2014, Prenatal diagnosis.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

The incidence of Rett syndrome in France.

L. Pasquier, C. Philippe, P. Jonveaux, 2006, Pediatric neurology.

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

N. Philip, M. Milh, A. Moncla, 2013, European journal of medical genetics.

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

C. Wadelius, S. Kenwrick, A. Fryer, 1995, American journal of human genetics.

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

N. Philip, M. Choux, A. Moncla, 1995, Clinical dysmorphology.

Cortical myoclonus in angelman syndrome

Renzo Guerrini, Paolo Bonanni, Pierre Thomas, 1996, Annals of neurology.

SHOX gene mutations and deletions in dyschondrosteosis or Leri‐Weill syndrome

A. Munnich, A. Toutain, M. Vekemans, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Arnold Munnich, Martine Le Merrer, Valérie Belin, 1998, Nature Genetics.

Cerebrofaciothoracic dysplasia: a new family.

N. Philip, S. Aymé, A. Moncla, 1992, Journal of medical genetics.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

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

M. Mitchell, M. Mattéi, A. Mégarbané, 2006, Journal of Cell Science.

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

M. Mattei, B. Delobel, A. Moncla, 2007, European Journal of Human Genetics.

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

J. Mosser, A. Toutain, N. Philip, 2011, European journal of medical genetics.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

L. Villard, A. Moncla, B. Chabrol, 2010, European Journal of Human Genetics.

Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

A. Munnich, P. Nitschké, L. Faivre, 2013, Human mutation.

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

M. Milili, C. Blanco-Betancourt, C. Schiff, 2004, Blood.

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

A. Verloes, D. Lacombe, A. Moncla, 1993, European journal of pediatrics.

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

S. Auvin, A. Verloes, C. Baumann, 2014, European journal of medical genetics.

Mutation analysis of UBE3A in Angelman syndrome patients.

J. Graham, R. Pagon, A. Moncla, 1998, American journal of human genetics.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

I. Scheffer, E. Bertini, R. Guerrini, 2009, Neurology.

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

A. Toutain, M. Raynaud, L. Villard, 1996, American journal of medical genetics.

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

A. Mégarbané, J. Fryns, D. Bourc’his, 2005, Human mutation.

Subcellular distribution of HP1 proteins is altered in ICF syndrome

A. Mégarbané, M. Mattei, A. Moncla, 2005, European Journal of Human Genetics.

B cell negative selection and terminal differentiation are defective in the ICF syndrome Short title: B cell development and tolerance in ICF syndrome

M. Milili, C. Schiff, A. Moncla, 2003 .

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

N. Philip, S. Aymé, A. Selicorni, 1992, Clinical dysmorphology.

Le syndrome de Smith-Magenis

L. Vallée, N. Philip, B. Delobel, 1997 .

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

M. Mattei, A. Moncla, M. Auger, 1991, Journal of medical genetics.

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

N. Philip, N. Girard, L. Villard, 2009, Journal of Medical Genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Whole ARX gene duplication is compatible with normal intellectual development

N. Philip, J. Andrieux, A. Moncla, 2014, American journal of medical genetics. Part A.

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

F. Rivier, C. Philippe, P. Jonveaux, 2006, European journal of medical genetics.

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

M. Devignes, C. Philippe, P. Jonveaux, 2013, European Journal of Human Genetics.

Syndrome de Smith-Magenis

M. Mattei, D. Lacombe, A. Moncla, 1997 .

Macrophage Activation Syndrome Mimicking Life-Threatening Infection in a Patient With Variable Immunodeficiency, Centromeric Instability, and Facial Anomalies

N. André, C. Blanco-Betancourt, C. Schiff, 2004, Pediatrics.

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

P Malzac, J F Mattei, N. Philip, 1999, Journal of medical genetics.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

N. Boddaert, G. Mollet, O. Gribouval, 2014, American Journal of Human Genetics.

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

L. Pasquier, C. Philippe, P. Jonveaux, 2006, European journal of medical genetics.

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

N. Philip, D. Lacombe, A. Moncla, 2000, European Journal of Pediatrics.

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

S. Taviaux, C. Rougeulle, M. Lalande, 1997, Nature Genetics.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

A. Afenjar, N. Le Meur, L. Faivre, 2018, Journal of Medical Genetics.

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

G. Bollini, N. Philip, M. Mattei, 2005, American journal of medical genetics. Part A.

Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice

Laurent Villard, Jan-Marino Ramirez, Jean-Christophe Roux, 2005, The Journal of Neuroscience.

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

J. Roux, L. Villard, A. Moncla, 2007, The European journal of neuroscience.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

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

N. Philip, A. Moncla, C. Missirian, 2000, American journal of medical genetics.

Use of DOP-PCR for amplification and labeling of BAC DNA for FISH

A. Moncla, C. Popovici, C. Missirian, 2012, Biotechnic & histochemistry : official publication of the Biological Stain Commission.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

Unexpected Inheritance of the (CGG)n Trinucleotide Expansion in a Fragile X Syndrome Family

V. Biancalana, A. Moncla, I. Boccaccio, 1996, European journal of human genetics : EJHG.

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

N. Philip, A. Moncla, J. Mattéi, 1995, Journal of medical genetics.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

P. Rump, E. Blair, L. Faivre, 2012, European Journal of Human Genetics.

Epilepsy and mental retardation: genetic syndromes

G. Daquin, A. Moncla, N. Villeneuve, 2006 .

Nine novel L1 CAM mutations in families with X‐linked hydrocephalus

J. Tolmie, S. Kenwrick, D. Goudie, 1997, Human mutation.

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

K. Davies, S. Knight, A. Moncla, 1994, American journal of human genetics.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

F. Escande, A. Moncla, J. Martinovic, 2019, American journal of medical genetics. Part A.

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

A. Munnich, S. Lyonnet, A. Moncla, 1993, American journal of human genetics.

Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis

A. Munnich, N. Philip, N. Le Meur, 1998, Human mutation.

Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes.

R. Zori, A. Moncla, J. Mattéi, 1990, American journal of medical genetics.

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

A. Toutain, N. Philip, A. Moncla, 1998, American journal of medical genetics.

Le syndrome d'Angelman

M. Mattei, A. Moncla, P. Malzac, 1994 .

[Clinical approach to mental retardation of genetic origin].

N. Philip, A. Moncla, B. Chabrol, 1999, Revue neurologique.