Literature DB >> 27617130

Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits.

Hela Ben Khelifa1, Molka Kammoun1, Hanene Hannachi1, Najla Soyah2, Saber Hammami3, Hatem Elghezal1, Damien Sanlaville4, Ali Saad1, Soumaya Mougou-Zerelli1.   

Abstract

We describe two patients carrying deletions of chromosome 8p23.1 with a commonly critical region identified by means of oligonucleotide array comparative genomic hybridization (array CGH). They didn't present congenital heart defects or behavioral problems. Only one patient presented with intellectual disability and carrying deletion of TNKS gene. We presumed the inclusion of TNKS gene in the mental impairment.

Entities:  

Keywords:  8p deletion; CGH array; TNKS gene; intellectual disability

Year:  2015        PMID： 27617130      PMCID： PMC4906530          DOI： 10.1055/s-0035-1565269

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  21 in total

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Review 2.  Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.

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Journal:  Genome Res       Date:  2008-11       Impact factor: 9.043

3.  Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

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Journal:  Am J Med Genet       Date:  1996-03-01

4.  Mammalian Pragmin regulates Src family kinases via the Glu-Pro-Ile-Tyr-Ala (EPIYA) motif that is exploited by bacterial effectors.

Authors:  Fatemeh Safari; Naoko Murata-Kamiya; Yasuhiro Saito; Masanori Hatakeyama
Journal:  Proc Natl Acad Sci U S A       Date:  2011-08-22       Impact factor: 11.205

Review 5.  Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Authors:  Lucia Ballarati; Anna Cereda; Rossella Caselli; Angelo Selicorni; Maria P Recalcati; Silvia Maitz; Palma Finelli; Lidia Larizza; Daniela Giardino
Journal:  Eur J Med Genet       Date:  2010-10-20       Impact factor: 2.708

6.  CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family.

Authors:  Masuko Katoh; Masaru Katoh
Journal:  Int J Mol Med       Date:  2003-06       Impact factor: 4.101

7.  Tankyrase, a poly(ADP-ribose) polymerase at human telomeres.

Authors:  S Smith; I Giriat; A Schmitt; T de Lange
Journal:  Science       Date:  1998-11-20       Impact factor: 47.728

8.  GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Authors:  Vidu Garg; Irfan S Kathiriya; Robert Barnes; Marie K Schluterman; Isabelle N King; Cheryl A Butler; Caryn R Rothrock; Reenu S Eapen; Kayoko Hirayama-Yamada; Kunitaka Joo; Rumiko Matsuoka; Jonathan C Cohen; Deepak Srivastava
Journal:  Nature       Date:  2003-07-06       Impact factor: 49.962

9.  Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.

Authors:  Gemma K Alderton; Laura Galbiati; Elen Griffith; Katharina H Surinya; Heidemarie Neitzel; Andrew P Jackson; Penny A Jeggo; Mark O'Driscoll
Journal:  Nat Cell Biol       Date:  2006-06-18       Impact factor: 28.824

Review 10.  Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

Authors:  Antonie D Kline; Ian D Krantz; Annemarie Sommer; Mark Kliewer; Laird G Jackson; David R FitzPatrick; Alex V Levin; Angelo Selicorni
Journal:  Am J Med Genet A       Date:  2007-06-15       Impact factor: 2.802
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