Literature DB >> 21343952

Clinical utility gene card for: Mowat-Wilson syndrome.

Marcella Zollino1, Livia Garavelli, Anita Rauch.   

Abstract

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Year:  2011        PMID： 21343952      PMCID： PMC3172917          DOI： 10.1038/ejhg.2011.12

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  36 in total

1.  Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Authors:  P Cerruti Mainardi; G Pastore; C Zweier; A Rauch
Journal:  J Med Genet       Date:  2004-02       Impact factor: 6.318

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

Authors:  C Zweier; I K Temple; F Beemer; E Zackai; T Lerman-Sagie; B Weschke; C E Anderson; A Rauch
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

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

Authors:  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
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

Review 4.  Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Authors:  L Garavelli; M Zollino; P Cerruti Mainardi; F Gurrieri; F Rivieri; F Soli; R Verri; E Albertini; E Favaron; M Zignani; D Orteschi; P Bianchi; F Faravelli; F Forzano; M Seri; A Wischmeijer; D Turchetti; E Pompilii; M Gnoli; G Cocchi; L Mazzanti; R Bergamaschi; D De Brasi; M P Sperandeo; F Mari; V Uliana; R Mostardini; M Cecconi; M Grasso; S Sassi; G Sebastio; A Renieri; M Silengo; S Bernasconi; N Wakamatsu; G Neri
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

5.  Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.

Authors:  L Garavelli; P Cerruti-Mainardi; R Virdis; S Pedori; G Pastore; M Godi; S Provera; A Rauch; C Zweier; M Zollino; G Banchini; N Longo; D Mowat; G Neri; S Bernasconi
Journal:  Horm Res       Date:  2005-05-20

6.  Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

Authors:  L Sztriha; Y Espinosa-Parrilla; A Gururaj; J Amiel; S Lyonnet; S Gerami; J G Johansen
Journal:  Neuropediatrics       Date:  2003-12       Impact factor: 1.947

7.  Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Authors:  D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

Review 8.  Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.

Authors:  I W Lurie; K R Supovitz; L S Rosenblum-Vos; E A Wulfsberg
Journal:  Genet Couns       Date:  1994

9.  Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

Authors:  C Y Gregory-Evans; H Vieira; R Dalton; G G W Adams; A Salt; K Gregory-Evans
Journal:  Am J Med Genet A       Date:  2004-11-15       Impact factor: 2.802

10.  Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene.

Authors:  Margherita Silengo; Giovanni Battista Ferrero; Nobuaki Wakamatsu
Journal:  Am J Med Genet A       Date:  2004-05-15       Impact factor: 2.802
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  4 in total

Review 1.  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

Review 2.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

Review 3.  Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

Authors:  Marcella Zollino; Serena Lattante; Daniela Orteschi; Silvia Frangella; Paolo N Doronzio; Ilaria Contaldo; Eugenio Mercuri; Giuseppe Marangi
Journal:  Front Neurosci       Date:  2017-10-18       Impact factor: 4.677

4.  Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

Authors:  Livia Garavelli; Ivan Ivanovski; Stefano Giuseppe Caraffi; Daniela Santodirocco; Marzia Pollazzon; Duccio Maria Cordelli; Ebtesam Abdalla; Patrizia Accorsi; Margaret P Adam; Chiara Baldo; Allan Bayat; Elga Belligni; Federico Bonvicini; Jeroen Breckpot; Bert Callewaert; Guido Cocchi; Goran Cuturilo; Koenraad Devriendt; Mary Beth Dinulos; Olivera Djuric; Roberta Epifanio; Francesca Faravelli; Debora Formisano; Lucio Giordano; Marina Grasso; Sabine Grønborg; Alessandro Iodice; Lorenzo Iughetti; Didier Lacombe; Massimo Maggi; Baris Malbora; Isabella Mammi; Sebastien Moutton; Rikke Møller; Petra Muschke; Manuela Napoli; Chiara Pantaleoni; Rosario Pascarella; Alessandro Pellicciari; Maria Luisa Poch-Olive; Federico Raviglione; Francesca Rivieri; Carmela Russo; Salvatore Savasta; Gioacchino Scarano; Angelo Selicorni; Margherita Silengo; Giovanni Sorge; Luigi Tarani; Luis Gonzaga Tone; Annick Toutain; Aurelien Trimouille; Elvis Terci Valera; Samantha Schrier Vergano; Nicoletta Zanotta; Marcella Zollino; William B Dobyns; Alex R Paciorkowski
Journal:  Genet Med       Date:  2016-11-10       Impact factor: 8.822
  4 in total

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