Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome-Reference-Cited by-同舟云学术

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Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome

Published:2016-09 Issue:9 Volume:59 Page:444-451
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Chakroun Amine,Ben Said Mariem,Ennouri Amine,Achour Imen,Mnif Mouna,Abid Mohamed,Ghorbel Abdelmonem,Marshall Jan D.,Naggert Jürgen K.,Masmoudi Saber

Funder

Ministère de l'Enseignement Supérieur et de la Recherche Scientifique

NIH

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference28 articles.

1. Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example;Aldahmesh;Am. J. Med. Genet. part A,2009

2. Familial Alström syndrome: a rare cause of bilateral progressive hearing loss;Bahmad;Braz J. Otorhinolaryngol.,2014

3. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy;Bond;J. Med. Genet.,2005

4. Establishing a standard definition for child overweight and obesity worldwide: international survey;Cole;Brit Med. J.,2000

5. Mutations in Alms1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome;Collin;Nat. Genet.,2002

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Letter to the editor: Defining the cardiovascular phenotype of adults with Alstrom Syndrome;International Journal of Cardiology;2024-11

2. Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis;Journal of Medical Genetics;2023-06-15

3. Meta-analysis of genotype-phenotype associations in Alström syndrome;2022-10-22

4. Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved;Genes;2021-11-19

5. Hearing loss in Africa: current genetic profile;Human Genetics;2021-10-05

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