Literature DB >> 19610083

A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.

Keiko Shimojima1, Kayoko Saito, Toshiyuki Yamamoto.   

Abstract

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Year:  2009        PMID： 19610083     DOI： 10.1002/ajmg.a.32963

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


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  4 in total

1.  Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.

Authors:  Andrey Shuvarikov; Ian M Campbell; Piotr Dittwald; Nicholas J Neill; Martin G Bialer; Christine Moore; Patricia G Wheeler; Stephanie E Wallace; Mark C Hannibal; Michael F Murray; Monica A Giovanni; Deborah Terespolsky; Sandi Sodhi; Matteo Cassina; David Viskochil; Billur Moghaddam; Kristin Herman; Chester W Brown; Christine R Beck; Anna Gambin; Sau Wai Cheung; Ankita Patel; Allen N Lamb; Lisa G Shaffer; Jay W Ellison; J Britt Ravnan; Paweł Stankiewicz; Jill A Rosenfeld
Journal:  Hum Mutat       Date:  2013-08-13       Impact factor: 4.878

2.  A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Authors:  Anna-Maja Molin; J Andrieux; D A Koolen; V Malan; M Carella; L Colleaux; V Cormier-Daire; A David; N de Leeuw; B Delobel; B Duban-Bedu; R Fischetto; F Flinter; S Kjaergaard; F Kok; A C Krepischi; C Le Caignec; C Mackie Ogilvie; S Maia; M Mathieu-Dramard; A Munnich; O Palumbo; F Papadia; R Pfundt; W Reardon; A Receveur; M Rio; L Ronsbro Darling; C Rosenberg; J Sá; L Vallee; C Vincent-Delorme; L Zelante; M-L Bondeson; G Annerén
Journal:  J Med Genet       Date:  2011-12-17       Impact factor: 6.318

3.  A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Authors:  Stefania Gimelli; Massimiliano Leoni; Maja Di Rocco; Gianluca Caridi; Simona Porta; Cristina Cuoco; Giorgio Gimelli; Elisa Tassano
Journal:  Mol Cytogenet       Date:  2013-11-26       Impact factor: 2.009

4.  Adult expression of a 3q13.31 microdeletion.

Authors:  Chelsea Lowther; Gregory Costain; Rebecca Melvin; Dimitri J Stavropoulos; Anath C Lionel; Christian R Marshall; Stephen W Scherer; Anne S Bassett
Journal:  Mol Cytogenet       Date:  2014-03-20       Impact factor: 2.009
  4 in total

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