Targeted carrier screening for four recessive disorders: High detection rate within a founder population-Reference-Cited by-同舟云学术

Targeted carrier screening for four recessive disorders: High detection rate within a founder population

Published:2015-03 Issue:3 Volume:58 Page:123-128
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mathijssen Inge B.,Henneman Lidewij,van Eeten-Nijman Janneke M.C.,Lakeman Phillis,Ottenheim Cecile P.E.,Redeker Egbert J.W.,Ottenhof Winnie,Meijers-Heijboer Hanne,van Maarle Merel C.

Funder

Netherlands Organization for Health Research and Development

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference39 articles.

1. Genetic screening for hemoglobinopathies, number 238, July 2000 (replaces number 168, February 1996). Committee on genetics;ACOG (American College of Obstetricians and Gynecologists) Committee Opinion;Int J Gynaecol Obstet,2001

2. Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent;ACOG Committee Opinion No. 442;Obstet Gynecol,2009

3. Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset;Barth;J Neurol Sci,1990

4. Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel;Basel-Vanagaite;Eur J Hum Genet,2007

5. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci Transl Med,2011

Cited by 29 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. Prospects for preconception genetic screening at the pregnancy planning stage;Journal of obstetrics and women's diseases;2023-12-15

2. Reproductive options in mitochondrial disease;Mitochondrial Diseases;2023

3. Epidemiology of Cerebellar Disorders;Contemporary Clinical Neuroscience;2023

4. Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set;Genetics in Medicine;2022-01

5. GENETIC SCREENING;Likarska sprava;2021-05-25