Literature DB >> 15121779

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

N Ishihara, K Yamada, Y Yamada, K Miura, J Kato, N Kuwabara, Y Hara, Y Kobayashi, K Hoshino, Y Nomura, M Mimaki, K Ohya, M Matsushima, H Nitta, K Tanaka, M Segawa, T Ohki, T Ezoe, T Kumagai, A Onuma, T Kuroda, M Yoneda, T Yamanaka, M Saeki, M Segawa, T Saji, M Nagaya, N Wakamatsu.   

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Year:  2004        PMID： 15121779      PMCID： PMC1735777          DOI： 10.1136/jmg.2003.016154

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


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  19 in total

1.  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

Review 2.  Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

Authors:  Johannes W Duess; Prem Puri
Journal:  Pediatr Surg Int       Date:  2015-07-09       Impact factor: 1.827

Review 3.  Hirschsprung's disease in children with Mowat-Wilson syndrome.

Authors:  David Coyle; Prem Puri
Journal:  Pediatr Surg Int       Date:  2015-07-09       Impact factor: 1.827

4.  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

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.  A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.

Authors:  Jian-Min Chen; Peter D Stenson; David N Cooper; Claude Férec
Journal:  Hum Genet       Date:  2005-06-28       Impact factor: 4.132

Review 7.  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

8.  Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.

Authors:  K Nicole Weaver; Jing Chen; Amy Shikany; Pete S White; Carlos E Prada; Bruce D Gelb; James F Cnota
Journal:  Circ Genom Precis Med       Date:  2022-06-06

9.  Mowat-Wilson syndrome: the first report of an association with central nervous system tumors.

Authors:  Elvis Terci Valera; Sabrine Teixeira Ferraz; María Sol Brassesco; Xiumei Zhen; Yiping Shen; Antonio Carlos dos Santos; Luciano Neder; Ricardo Santos Oliveira; Carlos Alberto Scrideli; Luiz Gonzaga Tone
Journal:  Childs Nerv Syst       Date:  2013-10-03       Impact factor: 1.475

10.  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
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