Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
about
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishScrutinizing ciliopathies by unraveling ciliary interaction networksUpdate on the genetics of bardet-biedl syndromeARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targetingBardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementA novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndromePharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection abilitySyndromic obesity: clinical implications of a correct diagnosis.Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genesMutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Two brothers with bardet-biedl syndrome presenting with chronic renal failure.Visual acuity and retinal function in patients with Bardet-Biedl syndrome.A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in miceAccumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.Bardet-Biedl syndrome.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeGenome-wide association study in a Chinese population with diabetic retinopathy.Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaLight-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapiesNon-syndromic retinal ciliopathies: translating gene discovery into therapy.Systemic diseases associated with retinal dystrophies.Bardet-Biedl syndrome: Is it only cilia dysfunction?Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.Genetics of human Bardet-Biedl syndrome, an updates.Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.Photoreceptor Cilia and Retinal Ciliopathies.A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.The Fungal Metabolite Brefeldin A Inhibits Dvl2-Plk1-Dependent Primary Cilium DisassemblyIdentifying mutations in Tunisian families with retinal dystrophyAutomatic feedback to promote safe walking and speech loudness control in persons with multiple disabilities: two single-case studies.Socio-economic characteristics of patients with generalized retinal dystrophy in Denmark.Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.The RPGRIP1-related retinal phenotype in children.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
P2860
Q21558497-170E8820-ABED-4E40-BADB-C586F552489DQ27025614-2D81B947-10FD-45B4-A758-56B9B7F8B28BQ27026747-88D2E9B1-C422-49B8-AB3A-34A85E6F65F7Q28000117-01AF0363-EDB4-49B2-B79B-3DD58F1163C3Q28071634-EA4D3BA2-0AC9-4007-86F0-37D7C0B3CED6Q28116066-C8C20C01-3B9C-49D6-AC48-FB678DCEC938Q28591411-9EEE7EA0-C483-4E38-A771-54B0367C8797Q34501434-B644BEF8-0F26-4CB5-9883-FBEC8EA0B999Q34563748-A5476C23-DE27-4578-B646-0804DAF2899AQ34832437-DEC8267E-80F1-43B1-8667-85D75C12CDB3Q35078642-0079D052-EDA3-4397-BB41-E92B297AAD3EQ35551253-46FB7F5C-3EAF-4A99-8C26-6A54B0A2D638Q35743930-9C1AFB7E-72BF-4F21-ABFE-730A9A7061E2Q35920860-2EFFD50D-9DF2-46D5-9D40-4B503F28488FQ35951221-EE8833AC-F411-41CA-BDC2-2D4630D66993Q35961452-67DB0552-26D1-432F-A8EC-119AA431EC23Q36466434-22945536-4055-410C-B67C-5B9A041850EDQ36585455-260E03D9-3D7E-4321-8DC4-5F153B76FFC2Q36740244-A01BA976-9B9D-40CE-AAF9-9A23C38DFF71Q36975153-8EC1ADAA-9967-4B29-87D0-DF03A613F2EAQ37083413-85AF2DDF-B55F-493F-AAB2-2BB7DD2E8530Q37284878-ADA3AC1C-FFDB-453E-95C6-BB6A7822ECFEQ37368007-5E6224E7-3077-4790-8C4B-1BB1B4210FD6Q37574435-2357CF10-FD72-415C-9A00-E34AA21D5B38Q37588148-37AA8F2D-C533-4B41-88B5-96E51109AFD2Q38030482-D3151EE2-6D27-481F-A33E-3B1BFEBFF919Q38261110-0099D67B-8582-451C-A049-B73393D9058AQ38558495-F0C8AF2E-CC58-4FF6-93CC-CE21673AF497Q38610400-E8DCAEF2-1660-4F5C-98B5-37C040294696Q38695238-1456116C-8D2B-4AF9-A76A-EAD8A581F5E5Q38941931-CAC20E01-1F88-4F6E-B84F-66443807EB62Q39176551-9A15B2FF-10C5-43DE-8995-B03A7EE94D9CQ40006084-DE8E8289-5FDF-42B7-B52D-F9190079D1C8Q41098167-BF08D79A-223C-4D46-9449-73F5747ABE36Q42364951-FE45268B-E7F8-4F22-B387-89311EBA4861Q45400755-C77F4C9E-9EE5-4EF4-9C77-FF289ADB6827Q45927416-659CDBC6-E713-4817-BCE9-1C8911465186Q48675141-17ABC9E6-D1F8-400D-8D78-0A8E0832CC82Q48971539-CA83EAB5-85D1-441A-9706-A40F7CE2A72AQ49864627-66C895B7-7689-4E0D-BFE9-73707850476F
P2860
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 05 April 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
@en
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
@nl
type
label
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
@en
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
@nl
prefLabel
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
@en
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
@nl
P2093
P1476
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.
@en
P2093
P304
P356
10.1016/J.PRETEYERES.2011.03.001
P577
2011-04-05T00:00:00Z