Literature DB >> 11746033

Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects.

S J Kennedy, A S Teebi, I Adatia, I Teshima.   

Abstract

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Year:  2001        PMID： 11746033     DOI： 10.1002/1096-8628(20011115)104:1<79::aid-ajmg1598>3.0.co;2-t

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


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  8 in total

1.  Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.

Authors:  E J Hollox; J A L Armour; J C K Barber
Journal:  Am J Hum Genet       Date:  2003-08-12       Impact factor: 11.025

2.  Genomic profile of copy number variants on the short arm of human chromosome 8.

Authors:  Shihui Yu; Stephanie Fiedler; Andrew Stegner; William D Graf
Journal:  Eur J Hum Genet       Date:  2010-05-12       Impact factor: 4.246

Review 3.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

4.  Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.

Authors:  Mary Glancy; Angela Barnicoat; Rajan Vijeratnam; Sharon de Souza; Joanne Gilmore; Shuwen Huang; Viv K Maloney; N Simon Thomas; David J Bunyan; Ann Jackson; John C K Barber
Journal:  Eur J Hum Genet       Date:  2008-08-20       Impact factor: 4.246

5.  Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Authors:  Javier T Granados-Riveron; Mark Pope; Frances A Bu'lock; Christopher Thornborough; Jacqueline Eason; Kerry Setchfield; Ami Ketley; Edwin P Kirk; Diane Fatkin; Michael P Feneley; Richard P Harvey; J David Brook
Journal:  Congenit Heart Dis       Date:  2011-10-20       Impact factor: 2.007

6.  Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.

Authors:  Bo Yang; Wei Zhou; Jiao Jiao; Jonas B Nielsen; Michael R Mathis; Mahyar Heydarpour; Guillaume Lettre; Lasse Folkersen; Siddharth Prakash; Claudia Schurmann; Lars Fritsche; Gregory A Farnum; Maoxuan Lin; Mohammad Othman; Whitney Hornsby; Anisa Driscoll; Alexandra Levasseur; Marc Thomas; Linda Farhat; Marie-Pierre Dubé; Eric M Isselbacher; Anders Franco-Cereceda; Dong-Chuan Guo; Erwin P Bottinger; G Michael Deeb; Anna Booher; Sachin Kheterpal; Y Eugene Chen; Hyun Min Kang; Jacob Kitzman; Heather J Cordell; Bernard D Keavney; Judith A Goodship; Santhi K Ganesh; Gonçalo Abecasis; Kim A Eagle; Alan P Boyle; Ruth J F Loos; Per Eriksson; Jean-Claude Tardif; Chad M Brummett; Dianna M Milewicz; Simon C Body; Cristen J Willer
Journal:  Nat Commun       Date:  2017-05-25       Impact factor: 14.919

7.  A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder.

Authors:  I Görker; H Gürkan; S Demir Ulusal; E Atlı; E Ikbal Atlı
Journal:  Balkan J Med Genet       Date:  2017-03-08       Impact factor: 0.519

Review 8.  Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangements.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2016-01-28       Impact factor: 2.009
  8 in total

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