Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?-Reference-Cited by-同舟云学术

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

Published:2008 Issue:3 Volume:28 Page:236-241
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Fares Fuad,Badarneh Khader,Abosaleh Mohamed,Harari-Shaham Amalia,Diukman Roni,David Miriam

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference35 articles.

1. Familial Dysautonomia Is Caused by Mutations of the IKAP Gene

2. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

3. Fanconi Anemia: Genetic Testing in Ashkenazi Jews

4. Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure

5. Mucolipidosis type IV: NovelMCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

Cited by 33 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. Terra incognita of glial cell dynamics in the etiology of leukodystrophies: Broadening disease and therapeutic perspectives;Life Sciences;2024-10

2. Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease;Cell & Bioscience;2024-04-06

3. Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology;Pharmaceutics;2022-11-05

4. On Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event;European Journal of Human Genetics;2022-11-01

5. The pathogenesis of, and pharmacological treatment for, Canavan disease;Drug Discovery Today;2022-09