Literature DB >> 20683995

Cerebellar hypoplasia and Cohen syndrome: a confirmed association.

Alexander Waite1, Mirja Somer, Mary O'Driscoll, Kathleen Millen, Forbes D C Manson, Kate E Chandler.   

Abstract

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Year:  2010        PMID： 20683995     DOI： 10.1002/ajmg.a.33569

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


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  3 in total

1.  Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Authors:  Muhammad Arshad Rafiq; Claire S Leblond; Muhammad Arif Nadeem Saqib; Akshita K Vincent; Amirthagowri Ambalavanan; Falak Sher Khan; Muhammad Ayaz; Naseema Shaheen; Dan Spiegelman; Ghazanfar Ali; Muhammad Amin-ud-Din; Sandra Laurent; Huda Mahmood; Mehtab Christian; Nadir Ali; Alanna Fennell; Zohair Nanjiani; Gerald Egger; Chantal Caron; Ahmed Waqas; Muhammad Ayub; Saima Rasheed; Baudouin Forgeot d'Arc; Amelie Johnson; Joyce So; Muhammad Qasim Brohi; Laurent Mottron; Muhammad Ansar; John B Vincent; Lan Xiong
Journal:  BMC Med Genet       Date:  2015-06-25       Impact factor: 2.103

Review 2.  Cohen Syndrome: Review of the Literature.

Authors:  Jonathan M Rodrigues; Hermina D Fernandes; Carrie Caruthers; Stephen R Braddock; Alan P Knutsen
Journal:  Cureus       Date:  2018-09-18

3.  Spatial Learning and Motor Deficits in Vacuolar Protein Sorting-associated Protein 13b (Vps13b) Mutant Mouse.

Authors:  Min Jung Kim; Ro Un Lee; Jihae Oh; Ja Eun Choi; Hyopil Kim; Kyungmin Lee; Su-Kyeong Hwang; Jae-Hyung Lee; Jin-A Lee; Bong-Kiun Kaang; Chae-Seok Lim; Yong-Seok Lee
Journal:  Exp Neurobiol       Date:  2019-08-31       Impact factor: 3.261
  3 in total

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