Literature DB >> 10364538

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

R Wadey, J McKie, C Papapetrou, H Sutherland, F Lohman, J Osinga, I Frohn, R Hofstra, C Meijers, F Amati, E Conti, A Pizzuti, B Dallapiccola, G Novelli, P Scambler.   

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Year:  1999        PMID： 10364538      PMCID： PMC1378096          DOI： 10.1086/302468

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  3 in total

1.  Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Authors:  Tingwei Guo; Donna McDonald-McGinn; Anna Blonska; Alan Shanske; Anne S Bassett; Eva Chow; Mark Bowser; Molly Sheridan; Frits Beemer; Koen Devriendt; Ann Swillen; Jeroen Breckpot; Maria C Digilio; Bruno Marino; Bruno Dallapiccola; Courtney Carpenter; Xin Zheng; Jacob Johnson; Jonathan Chung; Anne Marie Higgins; Nicole Philip; Tony J Simon; Karlene Coleman; Damian Heine-Suner; Jordi Rosell; Wendy Kates; Marcella Devoto; Elizabeth Goldmuntz; Elaine Zackai; Tao Wang; Robert Shprintzen; Beverly Emanuel; Bernice Morrow
Journal:  Hum Mutat       Date:  2011-09-16       Impact factor: 4.878

Review 2.  When half is not enough: gene expression and dosage in the 22q11 deletion syndrome.

Authors:  D W Meechan; T M Maynard; D Gopalakrishna; Y Wu; A S LaMantia
Journal:  Gene Expr       Date:  2007

3.  An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.

Authors:  Deborah U Frank; Lori K Fotheringham; Judson A Brewer; Louis J Muglia; Martin Tristani-Firouzi; Mario R Capecchi; Anne M Moon
Journal:  Development       Date:  2002-10       Impact factor: 6.868
  3 in total

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