Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics-Reference-Cited by-同舟云学术

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics

Published:2005-11-16 Issue:1 Volume:69 Page:58-64
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Rooms L,Reyniers E,Wuyts W,Storm K,Van Luijk R,Scheers S,Wauters J,Van Den Ende J,Biervliet M,Eyskens F,Van Goethem G,Laridon A,Ceulemans B,Courtens W,Kooy RF

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2005.00545.x/fullpdf

Reference10 articles.

1. Telomeres: a diagnosis at the end of the chromosomes;De Vries;J Med Genet,2003

2. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation;Flint;Curr Opin Genet Dev,2003

3. Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods;Rooms;Hum Mutat,2005

4. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA);Koolen;J Med Genet,2004

5. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA);Rooms;Hum Mutat,2004

Cited by 58 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. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1;Orphanet Journal of Rare Diseases;2023-03-19

2. The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role forDLL1;2022-11-14

3. Identification of chromosomal aberrations in a Costa Rican children population with idiopathicintellectual disability;POBLAC SALUD MESOAM;2022

4. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome andde novoduplication 3q26.32-q27.2;Clinical Genetics;2016-10-10

5. Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling;Advances in Experimental Medicine and Biology;2016