Literature DB >> 12920073

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

C Zweier, I K Temple, F Beemer, E Zackai, T Lerman-Sagie, B Weschke, C E Anderson, A Rauch.   

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Year:  2003        PMID： 12920073      PMCID： PMC1735564          DOI： 10.1136/jmg.40.8.601

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

1.  Molecular karyotyping using an SNP array for genomewide genotyping.

Authors:  A Rauch; F Rüschendorf; J Huang; U Trautmann; C Becker; C Thiel; K W Jones; A Reis; P Nürnberg
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

2.  Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome.

Authors:  Michael Joseph Kluk; Yu An; Philip James; David Coulter; David Harris; Bai-Lin Wu; Yiping Shen
Journal:  J Mol Diagn       Date:  2011-05       Impact factor: 5.568

3.  Clinical utility gene card for: Mowat-Wilson syndrome.

Authors:  Marcella Zollino; Livia Garavelli; Anita Rauch
Journal:  Eur J Hum Genet       Date:  2011-02-23       Impact factor: 4.246

4.  Association of MTHFR gene polymorphisms with pancreatic cancer: meta-analysis of 17 case-control studies.

Authors:  Fangfang Nie; Mingli Yu; Kaili Zhang; Luping Yang; Qian Zhang; Shan Liu; Mengwei Liu; Mengke Shang; Fanxin Zeng; Wanyang Liu
Journal:  Int J Clin Oncol       Date:  2019-11-07       Impact factor: 3.402

5.  Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient.

Authors:  R Smigiel; A Szafranska; M Czyzewska; A Rauch; Ch Zweier; D Patkowski
Journal:  J Appl Genet       Date:  2010       Impact factor: 3.240

Review 6.  Towards an evidence-based process for the clinical interpretation of copy number variation.

Authors:  E R Riggs; D M Church; K Hanson; V L Horner; E B Kaminsky; R M Kuhn; K E Wain; E S Williams; S Aradhya; H M Kearney; D H Ledbetter; S T South; E C Thorland; C L Martin
Journal:  Clin Genet       Date:  2011-12-13       Impact factor: 4.438

7.  Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).

Authors:  Antun Sasso; Ela Paucić-Kirincić; Silvija Kamber-Makek; Nada Sindicić; S Brajnović-Zaputović; Bojana Brajenović-Milić
Journal:  Childs Nerv Syst       Date:  2008-02-08       Impact factor: 1.475

8.  Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.

Authors:  Milene Vianna Mulatinho; Cassio Luiz de Carvalho Serao; Fernanda Scalco; David Hardekopf; Sona Pekova; Kristin Mrasek; Thomas Liehr; Anja Weise; Nagesh Rao; Juan Clinton Llerena
Journal:  Mol Cytogenet       Date:  2012-06-11       Impact factor: 2.009

Review 9.  Mowat-Wilson syndrome.

Authors:  Livia Garavelli; Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2007-10-24       Impact factor: 4.123

10.  A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull.

Authors:  Aurélien Capitan; Aurélie Allais-Bonnet; Alain Pinton; Brigitte Marquant-Le Guienne; Daniel Le Bourhis; Cécile Grohs; Stéphan Bouet; Laëtitia Clément; Laura Salas-Cortes; Eric Venot; Stéphane Chaffaux; Bernard Weiss; Arnaud Delpeuch; Guy Noé; Marie-Noëlle Rossignol; Sarah Barbey; Dominique Dozias; Emilie Cobo; Harmonie Barasc; Aurélie Auguste; Maëlle Pannetier; Marie-Christine Deloche; Emeline Lhuilier; Olivier Bouchez; Diane Esquerré; Gérald Salin; Christophe Klopp; Cécile Donnadieu; Céline Chantry-Darmon; Hélène Hayes; Yves Gallard; Claire Ponsart; Didier Boichard; Eric Pailhoux
Journal:  PLoS One       Date:  2012-11-09       Impact factor: 3.240
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