Anne Moncla


Ontology type: schema:Person     


Person Info

NAME

Anne

SURNAME

Moncla

Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-08 Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-02 Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-12 Extended spectrum of MBD5 mutations in neurodevelopmental disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-07 Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-12 Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-10 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-04 Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-01 Subcellular distribution of HP1 proteins is altered in ICF syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-01 Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-02 Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-03 Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1998-09 Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 1998-05 SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) in NATURE GENETICS
  • 1997-11 The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region in NATURE GENETICS
  • 1993-02 Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome in HUMAN GENETICS
  • 1993-01 Ondine-Hirschsprung syndrome (Haddad syndrome) in EUROPEAN JOURNAL OF PEDIATRICS
  • 1992-03 Physical mapping of an Xq-proximal interstitial duplication in a male in HUMAN GENETICS
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