Literature DB >> 9409878

Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

K Ohnuma, K Imaizumi, M Masuno, M Nakamura, Y Kuroki.   

Abstract

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Year:  1997        PMID： 9409878

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

1.  Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Authors:  J Amiel; Y Espinosa-Parrilla; J Steffann; P Gosset; A Pelet; M Prieur; O Boute; A Choiset; D Lacombe; N Philip; M Le Merrer; H Tanaka; M Till; R Touraine; A Toutain; M Vekemans; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  2001-10-10       Impact factor: 11.025

Review 2.  Mowat-Wilson syndrome.

Authors:  D R Mowat; M J Wilson; M Goossens
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

Review 3.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

4.  Genetic malformations of the human frontal lobe.

Authors:  Dina Amrom; Christopher A Walsh
Journal:  Epilepsia       Date:  2010-02       Impact factor: 5.864

5.  Kif1bp loss in mice leads to defects in the peripheral and central nervous system and perinatal death.

Authors:  Caroline S Hirst; Lincon A Stamp; Annette J Bergner; Marlene M Hao; Mai X Tran; Jan M Morgan; Matthias Dutschmann; Andrew M Allen; George Paxinos; Teri M Furlong; Sonja J McKeown; Heather M Young
Journal:  Sci Rep       Date:  2017-11-30       Impact factor: 4.379

6.  Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Authors:  Katherine C MacKenzie; Bianca M de Graaf; Andreas Syrimis; Yuying Zhao; Erwin Brosens; Grazia M S Mancini; Rachel Schot; Dicky Halley; Martina Wilke; Arve Vøllo; Frances Flinter; Andrew Green; Sahar Mansour; Jacek Pilch; Zornitza Stark; Eleni Zamba-Papanicolaou; Violetta Christophidou-Anastasiadou; Robert M W Hofstra; Jan D H Jongbloed; Nayia Nicolaou; George A Tanteles; Alice S Brooks; Maria M Alves
Journal:  Hum Mutat       Date:  2020-09-16       Impact factor: 4.878
  6 in total

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