Muriel Holder Espinasse


Ontology type: schema:Person     


Person Info

NAME

Muriel

SURNAME

Holder Espinasse

Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome – new data and literature review in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-02 CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-01 Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-08 Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-04 Clinical Utility Gene Card for: 3-M syndrome - Update 2013 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
  • 2013-05 Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2012-05 Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-11 Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-09 Clinical utility gene card for: 3M syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-03-06 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss in NATURE GENETICS
  • 2010-02 A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 in NATURE
  • 2009-11 Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2009-03 Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence in NATURE GENETICS
  • 2007-11 A new mutation in TP63 is associated with age-related pathology in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-05 Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-06 Clinical and molecular analysis of nine families with Adams–Oliver syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
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