Literature DB >> 21465662

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

Adam J de Smith1, Mieke M van Haelst, Richard J Ellis, Susan E Holder, Stewart J Payne, Sugera K Hashim, Philippe Froguel, Alexandra I F Blakemore.   

Abstract

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Year:  2011        PMID： 21465662     DOI： 10.1002/ajmg.a.33986

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Authors:  Julián Nevado; Jill A Rosenfeld; Rocío Mena; María Palomares-Bralo; Elena Vallespín; María Ángeles Mori; Jair A Tenorio; Karen W Gripp; Elizabeth Denenberg; Miguel Del Campo; Alberto Plaja; Rubén Martín-Arenas; Fernando Santos-Simarro; Lluis Armengol; Gordon Gowans; María Orera; M Carmen Sanchez-Hombre; Esther Corbacho-Fernández; Alberto Fernández-Jaén; Chad Haldeman-Englert; Sulagna Saitta; Holly Dubbs; Duban B Bénédicte; Xia Li; Lani Devaney; Mary Beth Dinulos; Stephanie Vallee; M Carmen Crespo; Blanca Fernández; Victoria E Fernández-Montaño; Inmaculada Rueda-Arenas; María Luisa de Torres; Jay W Ellison; Salmo Raskin; Carlos A Venegas-Vega; Fernando Fernández-Ramírez; Alicia Delicado; Sixto García-Miñaúr; Pablo Lapunzina
Journal:  Eur J Hum Genet       Date:  2015-04-08       Impact factor: 4.246

2.  Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Authors:  M J M Nowaczyk; B A Thompson; S Zeesman; U Moog; P A Sanchez-Lara; P L Magoulas; R E Falk; J E Hoover-Fong; D A S Batista; S M Amudhavalli; S M White; G E Graham; K A Rauen
Journal:  Clin Genet       Date:  2013-04-02       Impact factor: 4.438

3.  De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.

Authors:  Akira Ohishi; Yohei Masunaga; Shigeo Iijima; Kaori Yamoto; Fumiko Kato; Maki Fukami; Hirotomo Saitsu; Tsutomu Ogata
Journal:  J Hum Genet       Date:  2019-10-23       Impact factor: 3.755

4.  Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.

Authors:  L Swan; D Coman
Journal:  Case Rep Genet       Date:  2018-04-30

5.  19p13.3 Deletion With Polyotia: A Case Report and Literature Review.

Authors:  Carlos Silvera Redondo; Camilo Andrés Avendaño Capriles; David Fernández Sánchez; Ricardo David Espinosa; Ana Sofía Acostamadiedo Marx
Journal:  Cureus       Date:  2021-11-17

6.  Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

Authors:  Gregorio Serra; Sofia Felice; Vincenzo Antona; Maria Rita Di Pace; Mario Giuffrè; Ettore Piro; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2022-05-04       Impact factor: 3.288
  6 in total

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