Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
about
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Motile and non-motile cilia in human pathology: from function to phenotypes.Identification of novel candidate disease genes from de novo exonic copy number variants.Bardet-Biedl Syndrome -8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate.Genomic disorders 20 years on-mechanisms for clinical manifestations.Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.Signaling through the Primary Cilium.Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future
P2860
Q31149204-20C4C3E9-7403-4235-828C-D955561E22D5Q33919216-2BCB4546-550A-4272-B42B-3C41E5AFC7B0Q37747558-959635CF-1F7F-4E35-89C1-6E1C33D301C0Q39012190-70BD17FC-A5FC-4C06-B84D-1DB81141F4BFQ41692239-5F4B717F-9F9E-4832-BD85-625CA71BA8FFQ45072626-F6C7E159-7A66-4866-BE17-8341D9FA69F9Q45863473-2D945F3D-CF21-40B5-B448-20337BDC5219Q46300376-9B3EA8A6-0AE1-457F-B43D-C8EB51558EA1Q47246963-8901602A-F0D2-4472-BEC6-60FAC425B54AQ47943906-BB05F049-92E3-4650-81E2-8C09F7CD9C6BQ49075196-DCB6E663-FD8D-4A92-B4AD-35ADFFBA21FDQ49864627-969BA755-7719-49C5-9763-3B483DD93F68Q50280734-9ABE75A6-628A-4C9F-BEF5-63AB61FD3B5EQ50434575-A31194EC-735C-4A1A-A2F1-6A9FAF7CFBA7Q52339934-8812F577-A8AA-4ABC-A26B-0E65226FA0D2Q57166914-37C111A1-BA56-4519-9086-7E9723AD3A28
P2860
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
@en
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
@nl
type
label
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
@en
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
@nl
prefLabel
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
@en
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
@nl
P2093
P2860
P1476
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
@en
P2093
Aniko Sabo
Claudia M B Carvalho
Davut Pehlivan
Ellen B Richardson
Erica E Davis
Eyal Banin
Igor L Pediaditakis
James R Lupski
Jason R Willer
Kelsey A McFadden
P2860
P304
P356
10.1016/J.AJHG.2015.04.023
P407
P577
2016-08-01T00:00:00Z