Literature DB >> 20583185

Interstitial duplication in the proximal long arm of chromosome 16.

Kerstin Hansson1, Hans Dauwerse, Antoinet Gijsbers, Mireille van Diepen, Claudia Ruivenkamp, Sarina Kant.   

Abstract

Mesh：

Year:  2010        PMID： 20583185     DOI： 10.1002/ajmg.a.33434

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.

Authors:  Susanne Kohl; Pablo Llavona; Alexandra Sauer; Peggy Reuter; Nicole Weisschuh; Melanie Kempf; Florian Alexander Dehmelt; Aristides B Arrenberg; Ieva Sliesoraityte; Eberhart Zrenner; Mary J van Schooneveld; Günther Rudolph; Laura Kühlewein; Bernd Wissinger
Journal:  Hum Mol Genet       Date:  2021-06-17       Impact factor: 6.150

2.  Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report.

Authors:  Ljubica Odak; Ingeborg Barisić; Leona Morozin Pohovski; Mariluce Riegel; Albert Schinzel
Journal:  Croat Med J       Date:  2011-06       Impact factor: 1.351

3.  A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features.

Authors:  A Türkyılmaz; O Yaralı
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519
  3 in total

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