The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey-Reference-Cited by-同舟云学术

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Published:2014-10-09 Issue:1 Volume:60 Page:1-9
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Ozantürk Ayşegül,Marshall Jan D,Collin Gayle B,Düzenli Selma,Marshall Robert P,Candan Şükrü,Tos Tülay,Esen İhsan,Taşkesen Mustafa,Çayır Atilla,Öztürk Şükrü,Üstün İhsan,Ataman Esra,Karaca Emin,Özdemir Taha Reşid,Erol İlknur,Eroğlu Fehime Kara,Torun Deniz,Parıltay Erhan,Yılmaz-Güleç Elif,Karaca Ender,Atabek M Emre,Elçioğlu Nursel,Satman İlhan,Möller Claes,Muller Jean,Naggert Jürgen K,Özgül Rıza Köksal

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201485.pdf

Reference38 articles.

1. Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat. Genet. 2002; 31: 74–78.

2. Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat. Genet. 2002; 31: 79–83.

3. Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch. Intern. Med. 2005; 165: 675–683.

4. Marshall JD, Maffei P, Beck S, Barrett TG, Paisey RB Clinical utility gene card for: Alström syndrome. Eur. J. Hum. Genet. 2011; 19: e1–e3.

5. Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB et al. Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat. Commun. 2014; 4: 3416.

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