Literature DB >> 15103730

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

Margherita Silengo1, Giovanni Battista Ferrero1, Nobuaki Wakamatsu2.   

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Year:  2004        PMID: 15103730     DOI: 10.1002/ajmg.a.20607

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


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  5 in total

1.  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

2.  Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Authors:  Alice S Brooks; Aida M Bertoli-Avella; Grzegorz M Burzynski; Guido J Breedveld; Jan Osinga; Ludolf G Boven; Jane A Hurst; Grazia M S Mancini; Maarten H Lequin; Rene F de Coo; Ivana Matera; Esther de Graaff; Carel Meijers; Patrick J Willems; Dick Tibboel; Ben A Oostra; Robert M W Hofstra
Journal:  Am J Hum Genet       Date:  2005-05-09       Impact factor: 11.025

Review 3.  Mowat-Wilson syndrome.

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

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

Review 5.  Neurological Phenotype of Mowat-Wilson Syndrome.

Authors:  Duccio Maria Cordelli; Veronica Di Pisa; Anna Fetta; Livia Garavelli; Lucia Maltoni; Luca Soliani; Emilia Ricci
Journal:  Genes (Basel)       Date:  2021-06-27       Impact factor: 4.096

  5 in total

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