Literature DB >> 8462199

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome.

B Dallapiccola, R Mingarelli, C Digilio, M G Obregon, A Giannotti.   

Abstract

Mesh：

Year:  1993        PMID： 8462199     DOI： 10.1111/j.1399-0004.1993.tb04452.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

Authors:  Sarah Vergult; Andrew Dauber; Barbara Delle Chiaie; Elke Van Oudenhove; Marleen Simon; Ali Rihani; Bart Loeys; Joel Hirschhorn; Jean Pfotenhauer; John A Phillips; Shehla Mohammed; Caroline Ogilvie; John Crolla; Geert Mortier; Björn Menten
Journal:  Eur J Hum Genet       Date:  2011-12-14       Impact factor: 4.246

2.  Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients.

Authors:  Andrew J Murphy; Yina Li; Joshua B Pietsch; Chin Chiang; Harold N Lovvorn
Journal:  Pediatr Surg Int       Date:  2011-11-15       Impact factor: 1.827

3.  A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.

Authors:  Y Eugene Yu; Masae Morishima; Annie Pao; Ding-Yan Wang; Xiao-Yan Wen; Antonio Baldini; Allan Bradley
Journal:  Genetics       Date:  2006-02-19       Impact factor: 4.562

4.  Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Authors:  Tobias Laurell; Johanna Lundin; Britt-Marie Anderlid; Jerome L Gorski; Giedre Grigelioniene; Samantha J L Knight; Ana C V Krepischi; Agneta Nordenskjöld; Susan M Price; Carla Rosenberg; Peter D Turnpenny; Angela M Vianna-Morgante; Ann Nordgren
Journal:  Eur J Hum Genet       Date:  2013-01-30       Impact factor: 4.246

5.  A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability.

Authors:  Xiuhong Pang; Huajie Luo; Yongchuan Chai; Xiaowen Wang; Lianhua Sun; Longxia He; Penghui Chen; Hao Wu; Tao Yang
Journal:  PLoS One       Date:  2015-03-27       Impact factor: 3.240

6.  A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Authors:  Emma T Tonkin; Melanie Smith; Piet Eichhorn; Sandie Jones; Burhan Imamwerdi; Susan Lindsay; Mike Jackson; Tzu-Jou Wang; Maggie Ireland; John Burn; Ian D Krantz; Philippa Carr; Tom Strachan
Journal:  Hum Genet       Date:  2004-05-27       Impact factor: 4.132
  6 in total

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