Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing-Reference-Cited by-同舟云学术

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

Published:2014-08-28 Issue:3 Volume:166 Page:241-251
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kosho Tomoki,Miyake Noriko,Carey John C.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference82 articles.

1. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss;Azaiez;Hum Mutat,2014

2. Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation;Bacci;Neurogenetics,2010

3. A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum;Backx;Cytogenet Genome Res,2011

4. Mental retardation with absent fifth fingernail and terminal phalanx;Bartsocas;Am J Dis Child,1970

5. PHF6 deletions may cause Borjeson-Forssman-Lehmann syndrome in females;Berland;Mol Syndromol,2011

Cited by 98 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 missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation;Human Genetics;2024-07-19

2. Treatment of Orthognathic Surgical Class III Patient with Coffin–Siris Syndrome: A Case Report;Applied Sciences;2024-07-16

3. Identification of a novel de novo mutation in SOX4 for syndromic tooth agenesis;Clinical Oral Investigations;2024-04-30

4. The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation;2024-04-08

5. Transcription factors in microcephaly;Frontiers in Neuroscience;2023-11-29