Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A-Reference-Cited by-同舟云学术

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A

Published:2015-06 Issue:6-7 Volume:58 Page:351-354
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Balci Tugce B.^ORCID,Sawyer Sarah L.,Davila Jorge,Humphreys Peter^ORCID,Dyment David A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference23 articles.

1. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15;Chabchoub;J Med Genet,2008

2. A copy number variation morbidity map of developmental delay;Cooper;Nat Genet,2011

3. A newly recognised microdeletion syndrome involving 2p15p16. 1: narrowing down the critical region by adding another patient detected by genome wide tiling path;de Leeuw;J Med Genet,2008

4. Synaptic, transcriptional and chromatin genes disrupted in autism;De Rubeis;Nature,2014

5. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms;Fannemel;Eur J Med Genet,2014

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1. Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes;Genes & Genomics;2023-02-20

2. The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism;Journal of Genetic Medicine;2022-12-31

3. Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices;American Journal of Medical Genetics Part A;2022-07-20

4. Transcription Factors Bcl11a and Bcl11b Are Required for the Production and Differentiation of Cortical Projection Neurons;Cerebral Cortex;2021-12-29

5. Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency;Blood Advances;2021-05-03