Literature DB >> 8882794

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.

N H Robin1, J M Opitz, M Muenke.   

Abstract

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Mesh：

Year:  1996        PMID： 8882794     DOI： 10.1002/(SICI)1096-8628(19960329)62:3<305::AID-AJMG20>3.0.CO;2-N

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  17 in total

1.  Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing.

Authors:  Jennifer Winter; Tanja Lehmann; Sybille Krauss; Alexander Trockenbacher; Zofia Kijas; John Foerster; Vanessa Suckow; Marie-Laure Yaspo; Andreas Kulozik; Vera Kalscheuer; Rainer Schneider; Susann Schweiger
Journal:  Hum Genet       Date:  2004-03-31       Impact factor: 4.132

2.  Radial aplasia and chromosome 22q11 deletion.

Authors:  M C Digilio; A Giannotti; B Marino; A M Guadagni; M Orzalesi; B Dallapiccola
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

Review 3.  Anorectal malformation: the etiological factors.

Authors:  Chen Wang; Long Li; Wei Cheng
Journal:  Pediatr Surg Int       Date:  2015-04-22       Impact factor: 1.827

4.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

5.  The Opitz syndrome gene product, MID1, associates with microtubules.

Authors:  S Schweiger; J Foerster; T Lehmann; V Suckow; Y A Muller; G Walter; T Davies; H Porter; H van Bokhoven; P W Lunt; P Traub; H H Ropers
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

6.  Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Authors:  Paul Kruszka; Dong Li; Margaret H Harr; Nathan R Wilson; Daniel Swarr; Elizabeth M McCormick; Rosetta M Chiavacci; Mindy Li; Ariel F Martinez; Rachel A Hart; Donna M McDonald-McGinn; Matthew A Deardorff; Marni J Falk; Judith E Allanson; Cindy Hudson; John P Johnson; Irfan Saadi; Hakon Hakonarson; Maximilian Muenke; Elaine H Zackai
Journal:  J Med Genet       Date:  2014-11-20       Impact factor: 6.318

Review 7.  The MID1 gene product in physiology and disease.

Authors:  Rossella Baldini; Martina Mascaro; Germana Meroni
Journal:  Gene       Date:  2020-04-10       Impact factor: 3.688

8.  Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.

Authors:  K Taylor Wild; Tia Gordon; Elizabeth J Bhoj; Haowei Du; Shalini N Jhangiani; Jennifer E Posey; James R Lupski; Daryl A Scott; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2020-09-21       Impact factor: 2.802

9.  Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Authors:  Siulan Vendramini-Pittoli; Rosana Maria Candido-Souza; Rodrigo Gonçalves Quiezi; Roseli Maria Zechi-Ceide; Nancy Mizue Kokitsu-Nakata; Fernanda Sarquis Jehee; Lucilene Arilho Ribeiro-Bicudo; David R FitzPatrick; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Journal:  J Pediatr Genet       Date:  2020-01-03

10.  X-linked microtubule-associated protein, Mid1, regulates axon development.

Authors:  Tingjia Lu; Renchao Chen; Timothy C Cox; Randal X Moldrich; Nyoman Kurniawan; Guohe Tan; Jo K Perry; Alan Ashworth; Perry F Bartlett; Li Xu; Jing Zhang; Bin Lu; Mingyue Wu; Qi Shen; Yuanyuan Liu; Linda J Richards; Zhiqi Xiong
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-05       Impact factor: 11.205
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