New Clinico-Genetic Classification of TrichothiodystrophyMORICE-PICARD, Fanny; CARIO-ANDRE, Muriel; REZVANI, Hamid et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 9, pp 2020-2030, issn 1552-4825, 11 p.Article

Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-Hünermann-Happle Syndrome Associated With a Novel EBP MutationMORICE-PICARD, Fanny; KOSTRZEWA, Elise; WOLF, Claude et al.Archives of dermatology (1960). 2011, Vol 147, Num 9, pp 1073-1076, issn 0003-987X, 4 p.Article

Poikiloderma With Neutropenia, Clericuzio Type, in a Family From MoroccoMOSTEFAI, Rahima; MORICE-PICARD, Fanny; BORALEVI, Franck et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 21, pp 2762-2769, issn 1552-4825, 8 p.Article

Identification of a Homozygous Deletion Mutation in C16orf57 in a Family With Clericuzio-Type Poikiloderma With NeutropeniaTANAKA, Akio; MORICE-PICARD, Fanny; LACOMBE, Didier et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 6, pp 1347-1348, issn 1552-4825, 2 p.Article

A Novel Mutation in the Fatty Acid Transport Protein 4 Gene in a Patient Initially Described as Affected by Self-Healing Congenital Verruciform HyperkeratosisMORICE-PICARD, Fanny; LEAUTE-LABREZE, Christine; DECOR, Aude et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2664-2665, issn 1552-4825, 2 p.Article

Nicolaides―Baraitser Syndrome: Delineation of the PhenotypeSOUSA, Sérgio B; ABDUL-RAHMAN, Omar A; MACDERMOT, Kay et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 8, pp 1628-1640, issn 1552-4825, 13 p.Article

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patientsROORYCK, Caroline; MORICE-PICARD, Fanny; ARVEILER, Benoît et al.Human genetics. 2011, Vol 129, Num 2, pp 199-208, issn 0340-6717, 10 p.Article

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeVAN HOUDT, Jeroen K. J; NOWAKOWSKA, Beata Anna; CASTORI, Marco et al.Nature genetics. 2012, Vol 44, Num 4, pp 445-449, issn 1061-4036, 5 p.Article

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulationLE GOFF, Carine; MORICE-PICARD, Fanny; GAOXIANG GE et al.Nature genetics. 2008, Vol 40, Num 9, pp 1119-1123, issn 1061-4036, 5 p.Article

STXBP I-related encephalopathy presenting as infantile spasms and generalized tremor in three patientsMIGNOT, Cyril; MOUTARD, Marie-Laure; CHARLES, Perrine et al.Epilepsia (Copenhagen). 2011, Vol 52, Num 10, pp 1820-1827, issn 0013-9580, 8 p.Article

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009OJI, Vinzenz; TADINI, Gianluca; FLECKMAN, Philip et al.Journal of the American Academy of Dermatology. 2010, Vol 63, Num 4, pp 607-641, issn 0190-9622, 35 p.Article

Brachydactyly Type A1 With Short Humerus and Associated Skeletal FeaturesLACOMBE, Didier; DELRUE, Marie-Ange; ROORYCK, Caroline et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 12, pp 3016-3021, issn 1552-4825, 6 p.Article