Literature DB >> 12522797

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

L Garavelli, A Donadio, C Zanacca, G Banchini, E Della Giustina, G Bertani, G Albertini, C Del Rossi, C Zweier, A Rauch, M Zollino, G Neri.   

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Year:  2003        PMID： 12522797     DOI： 10.1002/ajmg.a.10855

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


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  13 in total

1.  Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development.

Authors:  Abby L Manthey; Salil A Lachke; Paul G FitzGerald; Robert W Mason; David A Scheiblin; John H McDonald; Melinda K Duncan
Journal:  Mech Dev       Date:  2013-10-23       Impact factor: 1.882

Review 2.  Genetic basis of Hirschsprung's disease.

Authors:  Paul K H Tam; Mercè Garcia-Barceló
Journal:  Pediatr Surg Int       Date:  2009-06-12       Impact factor: 1.827

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

Review 4.  Development and developmental disorders of the enteric nervous system.

Authors:  Florian Obermayr; Ryo Hotta; Hideki Enomoto; Heather M Young
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-12-11       Impact factor: 46.802

5.  Functional conservation of zinc-finger homeodomain gene zfh1/SIP1 in Drosophila heart development.

Authors:  Margaret Liu; Mingtsan Su; Gary E Lyons; Rolf Bodmer
Journal:  Dev Genes Evol       Date:  2006-09-07       Impact factor: 0.900

6.  Mutations in Smad-interacting protein 1 gene are responsible for absence of its expression in Hirschsprung's disease.

Authors:  Wei Zhao; Shu-Cheng Zhang; Wen-Kai Huang; Xue-Li Li
Journal:  Clin Exp Med       Date:  2018-03-29       Impact factor: 3.984

7.  MicroRNA-192 regulates hypertrophic scar fibrosis by targeting SIP1.

Authors:  Yan Li; Julei Zhang; Wei Zhang; Yang Liu; Yuehua Li; Kejia Wang; Yijie Zhang; Chen Yang; Xiaoqiang Li; Jihong Shi; Linlin Su; Dahai Hu
Journal:  J Mol Histol       Date:  2017-09-07       Impact factor: 2.611

Review 8.  Mowat-Wilson syndrome.

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

9.  ZEB2, a new candidate gene for asplenia.

Authors:  Linda Pons; Sophie Dupuis-Girod; Marie-Pierre Cordier; Patrick Edery; Massimiliano Rossi
Journal:  Orphanet J Rare Dis       Date:  2014-01-08       Impact factor: 4.123

10.  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
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