Inactivation du chromosome X < Incapacités de développement < Incendies

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List of bibliographic references indexed by Incapacités de développement

Number of relevant bibliographic references: 12.

Ident.	Authors (with country if any)	Title
000567 (2017)	Aisling M. O'Riordan [Irlande (pays)] ; Niamh Mcgrath [Irlande (pays)] ; Farhana Sharif [Irlande (pays)] ; Nuala P. Murphy [Irlande (pays)] ; Orla Franklin [Irlande (pays)] ; Sally Ann Lynch [Irlande (pays)] ; Michael J. O'Grady [Irlande (pays)]	Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.
002C51 (2014)	Sara M. Sarasua ; Luigi Boccuto ; Julia L. Sharp ; Alka Dwivedi ; Chin-Fu Chen ; Jonathan D. Rollins ; R Curtis Rogers ; Katy Phelan ; Barbara R. Dupont	Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
005811 (2010)	Byung Joo Lee [Corée du Sud] ; Jeong Hun Kim ; Young Suk Yu	Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.
005D50 (2010)	Benjamin D. Solomon [États-Unis] ; Eileen Lange [États-Unis] ; Jay Shubrook [États-Unis] ; F. John Service [États-Unis] ; Gail Herman [États-Unis] ; Rajaram J. Karne [États-Unis] ; Phillip Gorden [États-Unis] ; Maximilian Muenke [États-Unis] ; Constantine A. Stratakis [États-Unis]	Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia
007C98 (2006)	Maria Letizia Musumeci ; Maria Rita Nasca ; Rocco De Pasquale ; Robert A. Schwartz [États-Unis] ; Giuseppe Micali	Cutaneous Manifestations and Massive Genital Involvement in Hennekam Syndrome
008801 (2004)	Vera Lúcia Gil Da Silva Lopes ; Maria Leine Guion-Almeida ; Silvyo David Araújo Giffoni	Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs.
00AE54 (1999)	David Mowat [Australie] ; Anna Jauch [Allemagne] ; Lisa Robson [Australie] ; Arabella Smith [Australie]	Duplication within chromosome 5q characterized by fluorescence in situ hybridization
00C560 (1995)	Jean-Pierre Fryns [Belgique]	Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13
00CC95 (1993)	S R Phaoke [Inde] ; A K Sharma ; S S Agarawal	A new syndrome of multiple joint dislocations with metaphyseal dysplasia.
00D032 (1993)	J. O'B. Hourihane [Royaume-Uni] ; C. P. Bennett ; R. Chaudhuri ; S. A. Robb ; N. D. T. Martin [Royaume-Uni]	A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema
012A06 (????)	C. Severien ; S. Felix ; K. Bartholomé	Ring chromosome 22: a case report.
012F87 (????)	Konrad Oexle [Allemagne] ; Maja Hempel ; Anna Jauch ; Thomas Meitinger ; Núria Rivera-Brugués ; Sabine Stengel-Rutkowski ; Tim Strom	3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

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