Literature DB >> 15887303

OEIS complex with del(3)(q12.2q13.2).

Rika Kosaki, Yasuyuki Fukuhara, Motomichi Kosuga, Torayuki Okuyama, Noriko Kawashima, Toshiro Honna, Katsuhiko Ueoka, Kenjiro Kosaki.   

Abstract

Mesh：

Year:  2005        PMID： 15887303     DOI： 10.1002/ajmg.a.30733

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


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  10 in total

1.  VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.

Authors:  E Brosens; H Eussen; Y van Bever; R M van der Helm; H Ijsselstijn; H P Zaveri; R Wijnen; D A Scott; D Tibboel; A de Klein
Journal:  Mol Syndromol       Date:  2013-02

2.  Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report.

Authors:  Yang-Qing Xu; Xiao-Hong Yang; Xin-Lin Chen; Xiu-Qiin Ji; Sheng Zhao
Journal:  Exp Ther Med       Date:  2017-06-28       Impact factor: 2.447

Review 3.  The Genomic Architecture of Bladder Exstrophy Epispadias Complex.

Authors:  Glenda M Beaman; Raimondo M Cervellione; David Keene; Heiko Reutter; William G Newman
Journal:  Genes (Basel)       Date:  2021-07-28       Impact factor: 4.096

4.  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

Review 5.  Cloacal exstrophy with extensive Chiari II malformation: case report and review of the literature.

Authors:  Obed M Nyarenchi; Andrea Scherer; Saul Wilson; Daniel H Fulkerson
Journal:  Childs Nerv Syst       Date:  2013-06-13       Impact factor: 1.475

6.  Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Authors:  Kim M Keppler-Noreuil; Kristin M Conway; Dereck Shen; Anthony J Rhoads; John C Carey; Paul A Romitti
Journal:  Am J Med Genet A       Date:  2017-09-28       Impact factor: 2.802

7.  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

8.  Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.

Authors:  Heiko Reutter; Kim Keppler-Noreuil; Catherine E Keegan; Holger Thiele; Gen Yamada; Michael Ludwig
Journal:  Curr Genomics       Date:  2016-02       Impact factor: 2.236

9.  CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

Authors:  Catharina von Lowtzow; Andrea Hofmann; Rong Zhang; Florian Marsch; Anne-Karoline Ebert; Wolfgang Rösch; Raimund Stein; Thomas M Boemers; Karin Hirsch; Carlo Marcelis; Wouter F J Feitz; Alfredo Brusco; Nicola Migone; Massimo Di Grazia; Susanne Moebus; Markus M Nöthen; Heiko Reutter; Michael Ludwig; Markus Draaken
Journal:  BMC Med Genet       Date:  2016-04-30       Impact factor: 2.103

10.  Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy.

Authors:  Ozge Ozdemir; Figen Aksoy; Cihat Sen
Journal:  Int J Gynaecol Obstet       Date:  2022-01-15       Impact factor: 4.447
  10 in total

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