Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

American Journal of Medical Genetics, Part A

Volumn 167, Issue 1, 2015, Pages 111-122

  Nizon, Mathilde ^a   Andrieux, Joris ^b   Rooryck, Caroline ^c   de Blois, Marie Christine ^a   Bourel Ponchel, Emilie ^d   Bourgois, Béatrice ^b   Boute, Odile ^b   David, Albert ^e   Delobel, Bruno ^f   Duban Bedu, Bénédicte ^f   Giuliano, Fabienne ^g   Goldenberg, Alice ^h   Grotto, Sarah ^h   Héron, Delphine ⁱ   Karmous Benailly, Houda ^g   Keren, Boris ⁱ   Lacombe, Didier ^c   Lapierre, Jean Michel ^a   Le Caignec, Cédric ^e   Le Galloudec, Eric ^j   Le Merrer, Martine ^k   Le Moing, Anne Gaëlle ^d   Mathieu Dramard, Michèle ^d   Nusbaum, Sylvie ^a   Pichon, Olivier ^e   Pinson, Lucile ^l   Raoul, Odile ^a   Rio, Marlène ^k   Romana, Serge ^a   Roubertie, Agnès ^m   Colleaux, Laurence ^a   Turleau, Catherine ^a   Vekemans, Michel ^a   Nabbout, Rima ^k   Malan, Valérie ^a   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

^d AMIENS UNIVERSITY HOSPITAL   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f St Antoine Pediatric Clinic   (France)

^g CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^h ROUEN UNIVERSITY HOSPITAL   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j CENTRE HOSPITALIER   (France)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l HÔPITAL ARNAUD DE VILLENEUVE   (France)

^m GUI DE CHAULIAC HOSPITAL   (France)

more..

Author keywords

Early onset of puberty; FTSJ1; Intellectual disability; PQBP1; Seizure; SLC35A2

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BMP15 GENE; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; FEMALE; FOCAL EPILEPSY; FTSJ1 GENE; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; MALE; PATHOGENESIS; PQBP1 GENE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; SHROOM4 GENE; SLC35A2 GENE; WEST SYNDROME; X CHROMOSOME ABERRATION; X CHROMOSOME INACTIVATION; CHROMOSOME MAP; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETIC ASSOCIATION; GENETICS; PHENOTYPE; SEGMENTAL DUPLICATION; X CHROMOSOME;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; PHENOTYPE; SEGMENTAL DUPLICATIONS, GENOMIC;

EID: 84919632684     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36807     Document Type: Article

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