Literature DB >> 26285675

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.

K Nikopoulos1, G U Butt2, P Farinelli1, M Mudassar2, E Domènech-Estévez1,3,4, C Samara1, M Kausar5, I Masroor2, R Chrast1,3,4, C Rivolta1, S Siddiqi5.   

Abstract

Entities:  

Year:  2015        PMID： 26285675     DOI： 10.1111/cge.12645

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

Review 1.  Genetic and Syndromic Causes of Obesity and its Management.

Authors:  Ildiko H Koves; Christian Roth
Journal:  Indian J Pediatr       Date:  2017-11-27       Impact factor: 1.967

2.  Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.

Authors:  Raeesa Tehreem; Iris Chen; Mudassar Raza Shah; Yumei Li; Muzammil Ahmad Khan; Kiran Afshan; Rui Chen; Sabika Firasat
Journal:  Genes (Basel)       Date:  2022-09-10       Impact factor: 4.141

Review 3.  Molecular genetic landscape of hereditary hearing loss in Pakistan.

Authors:  Sadaf Naz
Journal:  Hum Genet       Date:  2021-07-25       Impact factor: 4.132
  3 in total

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