Literature DB >> 12362044

A novel atypical 22q11.2 distal deletion in father and son.

S Garcia-Miñaur, J Fantes, R S Murray, M E M Porteous, L Strain, J E Burns, J Stephen, J P Warner.   

Abstract

Mesh：

Year:  2002        PMID： 12362044      PMCID： PMC1734988          DOI： 10.1136/jmg.39.10.e62

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  20 in total

1.  A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Authors:  Kerry A Miller; Tiong Y Tan; Megan F Welfare; Susan M White; Zornitza Stark; Ravi Savarirayan; Trent Burgess; Andrew A Heggie; Georgina Caruana; John F Bertram; John F Bateman; Peter G Farlie
Journal:  Mol Syndromol       Date:  2014-11-08

2.  Neural tube defects and atypical deletion on 22q11.2.

Authors:  Chiara Leoni; David A Stevenson; Katherine B Geiersbach; Christian N Paxton; Bryan L Krock; Rong Mao; Alan F Rope
Journal:  Am J Med Genet A       Date:  2014-08-13       Impact factor: 2.802

3.  Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.

Authors:  Michael J Zeitz; Paula P Lerner; Ferhat Ay; Eric Van Nostrand; Julia D Heidmann; William S Noble; Andrew R Hoffman
Journal:  Nucleus       Date:  2013-12-05       Impact factor: 4.197

4.  Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

Authors:  Deling Li; Mustafa Tekin; Maria Buch; Yao-Shan Fan
Journal:  Mol Cytogenet       Date:  2012-04-09       Impact factor: 2.009

5.  An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome.

Authors:  Laia Vergés; Francesca Vidal; Esther Geán; Alexandra Alemany-Schmidt; Maria Oliver-Bonet; Joan Blanco
Journal:  Sci Rep       Date:  2017-01-06       Impact factor: 4.379

6.  Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.

Authors:  Sintia Iole Nogueira; April M Hacker; Fernanda T S Bellucco; Denise M Christofolini; Leslie Domenici Kulikowski; Mirlene C S P Cernach; Beverly S Emanuel; Maria Isabel Melaragno
Journal:  Eur J Med Genet       Date:  2008-02-08       Impact factor: 2.708

7.  Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

Authors:  Tracy Tucker; Alexandre Montpetit; David Chai; Susanna Chan; Sébastien Chénier; Bradley P Coe; Allen Delaney; Patrice Eydoux; Wan L Lam; Sylvie Langlois; Emmanuelle Lemyre; Marco Marra; Hong Qian; Guy A Rouleau; David Vincent; Jacques L Michaud; Jan M Friedman
Journal:  BMC Med Genomics       Date:  2011-03-25       Impact factor: 3.063

8.  22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Authors:  Shay Ben-Shachar; Zhishuo Ou; Chad A Shaw; John W Belmont; Millan S Patel; Marybeth Hummel; Stephen Amato; Nicole Tartaglia; Jonathan Berg; V Reid Sutton; Seema R Lalani; A Craig Chinault; Sau W Cheung; James R Lupski; Ankita Patel
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

Review 9.  A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Authors:  Luis Fernández; Julián Nevado; Fernando Santos; Damià Heine-Suñer; Victor Martinez-Glez; Sixto García-Miñaur; Rebeca Palomo; Alicia Delicado; Isidora López Pajares; María Palomares; Luis García-Guereta; Eva Valverde; Federico Hawkins; Pablo Lapunzina
Journal:  BMC Med Genet       Date:  2009-06-02       Impact factor: 2.103

10.  Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Authors:  Jm Friedman; Shelin Adam; Laura Arbour; Linlea Armstrong; Agnes Baross; Patricia Birch; Cornelius Boerkoel; Susanna Chan; David Chai; Allen D Delaney; Stephane Flibotte; William T Gibson; Sylvie Langlois; Emmanuelle Lemyre; H Irene Li; Patrick MacLeod; Joan Mathers; Jacques L Michaud; Barbara C McGillivray; Millan S Patel; Hong Qian; Guy A Rouleau; Margot I Van Allen; Siu-Li Yong; Farah R Zahir; Patrice Eydoux; Marco A Marra
Journal:  BMC Genomics       Date:  2009-11-16       Impact factor: 3.969
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