Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome-Reference-Cited by-同舟云学术

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Published:2015-11 Issue:5 Volume:97 Page:691-707
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Yuan Bo,Harel Tamar,Gu Shen,Liu Pengfei,Burglen Lydie,Chantot-Bastaraud Sandra,Gelowani Violet,Beck Christine R.,Carvalho Claudia M.B.,Cheung Sau Wai,Coe Andrew,Malan Valérie,Munnich Arnold,Magoulas Pilar L.,Potocki Lorraine,Lupski James R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference64 articles.

1. Contiguous gene syndromes: a component of recognizable syndromes;Schmickel;J. Pediatr.,1986

2. Structural variation mutagenesis of the human genome: Impact on disease and evolution;Lupski;Environ. Mol. Mutagen.,2015

3. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits;Lupski;Trends Genet.,1998

4. Genomic disorders ten years on;Lupski;Genome Med.,2009

5. Structural variation in the human genome and its role in disease;Stankiewicz;Annu. Rev. Med.,2010

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. Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS);Journal of Communication Disorders;2024-09

2. Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing <i>RAI1</i>;OBM Genetics;2024-03-05

3. Genetic and Genomic Testing;Genomics in the Clinic;2024

4. Contiguous gene syndrome;Cases in Laboratory Genetics and Genomics (LGG) Practice;2023

5. Complex genomic rearrangements: an underestimated cause of rare diseases;Trends in Genetics;2022-11