Literature DB >> 8862635

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

D M McDonald-McGinn, B S Emanuel, E H Zackai.   

Abstract

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Year:  1996        PMID： 8862635     DOI： 10.1002/ajmg.1320640304

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


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  3 in total

1.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

2.  What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Authors:  Ian M Campbell; Sarah E Sheppard; T Blaine Crowley; Daniel E McGinn; Alice Bailey; Michael J McGinn; Marta Unolt; Jelle F Homans; Erin Y Chen; Harold I Salmons; J William Gaynor; Elizabeth Goldmuntz; Oksana A Jackson; Lorraine E Katz; Maria R Mascarenhas; Vincent F X Deeney; René M Castelein; Karen B Zur; Lisa Elden; Staci Kallish; Thomas F Kolon; Sarah E Hopkins; Madeline A Chadehumbe; Michele P Lambert; Brian J Forbes; Julie S Moldenhauer; Erica M Schindewolf; Cynthia B Solot; Edward M Moss; Raquel E Gur; Kathleen E Sullivan; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

3.  Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

Authors:  Donna M McDonald-McGinn; Somayyeh Fahiminiya; Timothée Revil; Beata A Nowakowska; Joshua Suhl; Alice Bailey; Elisabeth Mlynarski; David R Lynch; Albert C Yan; Larissa T Bilaniuk; Kathleen E Sullivan; Stephen T Warren; Beverly S Emanuel; Joris R Vermeesch; Elaine H Zackai; Loydie A Jerome-Majewska
Journal:  J Med Genet       Date:  2012-12-11       Impact factor: 6.318
  3 in total

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