Literature DB >> 21484997

6q27 subtelomeric deletions: Is there a specific phenotype?

Chiara Rigon, Leonardo Salviati, Romina Mandarano, Marta Donà, Maurizio Clementi.   

Abstract

Mesh：

Year:  2011        PMID： 21484997     DOI： 10.1002/ajmg.a.33877

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


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  3 in total

1.  Genotype-Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature.

Authors:  Xiaolei Xie; Hongyan Chai; Autumn DiAdamo; Brittany Grommisch; Jiadi Wen; Hui Zhang; Peining Li
Journal:  Glob Med Genet       Date:  2022-03-11

2.  Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.

Authors:  Marianna De Cinque; Orazio Palumbo; Ermelinda Mazzucco; Antonella Simone; Pietro Palumbo; Renata Ciavatta; Giuliana Maria; Rosangela Ferese; Stefano Gambardella; Antonella Angiolillo; Massimo Carella; Silvio Garofalo
Journal:  Front Genet       Date:  2017-12-06       Impact factor: 4.599

Review 3.  Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

Authors:  Sirisha Peddibhotla; Sandesh C S Nagamani; Ayelet Erez; Jill V Hunter; J Lloyd Holder; Mary E Carlin; Patricia I Bader; Helene M F Perras; Judith E Allanson; Leslie Newman; Gayle Simpson; LaDonna Immken; Erin Powell; Aaron Mohanty; Sung-Hae L Kang; Pawel Stankiewicz; Carlos A Bacino; Weimin Bi; Ankita Patel; Sau W Cheung
Journal:  Eur J Hum Genet       Date:  2014-04-16       Impact factor: 4.246
  3 in total

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