Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
about
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPDNA End Resection: Facts and MechanismsMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesUltra-Rare Syndromes: The Example of Rubinstein-Taybi SyndromeThe SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseasesThe Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profilesDe novo mutations in MLL cause Wiedemann-Steiner syndrome.Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing.Next-generation sequencing: from understanding biology to personalized medicine.FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.Whole exome sequencing to identify genetic causes of short statureTargeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.The promise of whole-exome sequencing in medical genetics.Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Mutations in PIK3R1 cause SHORT syndromeNetwork-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic DiseaseRegulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Genetic syndromes caused by mutations in epigenetic genes.Exome sequencing greatly expedites the progressive research of Mendelian diseases.Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.Genetics of Short Stature.The defining DNA methylation signature of Floating-Harbor Syndrome.Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.Trans-ancestry mutational landscape of hepatocellular carcinoma genomes.Suppression of SRCAP chromatin remodelling complex and restriction of lymphoid lineage commitment by Pcid2.Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.A novel finding of oligodontia and ankyloglossia in a 14-year-old with Floating-Harbor syndrome.Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.LncKdm2b controls self-renewal of embryonic stem cells via activating expression of transcription factor Zbtb3.
P2860
Q21202849-AF800778-6FD1-48D6-8C84-E82560F6BCFDQ26744798-E4EEB040-A83B-4CDE-82E8-A31D8A943F25Q26992084-B97A8833-F3DE-4263-B557-5A4D7A3F00DDQ28080220-52FABC2A-F344-4913-A892-ED4340481EEDQ28292392-AC0ED107-CA03-40F1-9BFB-18A624FEC03EQ28603410-23D580BE-5C75-447B-BA24-B4365DD22F80Q30458307-A589E513-4993-4F1A-AA00-AD0751C372E2Q30857788-9366B382-C88C-425F-B26C-CF75F80B1E56Q33565443-CCD203D3-931F-4D03-91F3-EFD9874F789AQ34000906-91D75A23-F3CD-4A47-8E4C-DAA65E338DCCQ34033624-E5AAECA0-BFB7-4266-BAC5-DAB5C3B80753Q34315110-B99B038D-2322-4A37-9860-7716EBCC8E06Q34382912-D92F238B-38EB-4332-94A3-1FCDD58B37A0Q35056679-C442F178-8A85-4BC6-B4B8-18F055718D49Q35460127-7163DC1D-7AE0-44E8-BDAF-6AAA2DB5A0D9Q35983745-E62A739C-52F5-4019-96F1-63D012F0EE98Q36108386-A3457151-55AD-4C86-BE9F-3148CEAC29C8Q36686140-BF43FCD2-41EF-4280-9255-0098F93F2CD9Q37010402-4FB2A418-AC4D-4D6D-B32D-EE163FF70F89Q37169490-77900CD9-BBD9-4615-BD6A-DBDC9495A918Q37995121-E7AD26D9-C830-405D-821E-AD74DB329BE2Q38013966-FAF33ADF-EAF5-43D7-B6DD-EB166EBFB89AQ38078209-07F7A6B7-237F-427A-8763-5C78594D9278Q38175288-FDB3433E-CE3C-4D5E-988B-5323FAB36136Q38398324-68AFA934-D1A7-41EE-B2DD-BAA72C43EFB5Q38840545-A0347E59-1AD6-41C5-98A8-4F6DE78305E5Q39127494-61607378-29C5-44EB-B55E-F941B75470DAQ39286284-DAAA0682-26E2-43D5-B1A0-A486744B3980Q40432995-C6750A00-6885-4B4D-ACB9-34B01FA401F9Q41922212-A9368DDA-EC9E-4049-827C-0F5B5277928EQ42182370-20B7A84D-C817-4B57-942D-2CC3EF813D24Q43477126-D26C0520-7BAF-4973-A5E8-381DC3B113F6Q44601857-E1E0AA7B-057A-44B4-B4D3-3549D674722AQ45122849-1049E380-8330-44C4-A3A0-9B0D55411DC9Q47229568-0655F838-EDFD-458D-8742-0DBBB3B97A32Q47315085-8D0BD9E0-16C9-4181-B422-0D67E50E7592Q47340829-279C1A2F-A360-42FA-9664-F945688EAE09Q50053640-68A1FBF2-3BB5-41CB-A7CD-251D8B60A582Q50740659-0B3736D3-7D7D-495C-856C-13BDF9E48AD4Q52357053-6BCBEC8D-F3F4-4AC3-9AE8-076DE552FE47
P2860
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@ast
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@en
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@nl
type
label
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@ast
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@en
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@nl
prefLabel
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@ast
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@en
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@nl
P2093
P2860
P50
P1476
Mutations in SRCAP, encoding S ...... cause Floating-Harbor syndrome
@en
P2093
Albert E Chudley
Beate Albrecht
Bernard N Chodirker
Chandree Beaulieu
D Ross McLeod
Dagmar Wieczorek
Dennis E Bulman
FORGE Canada Consortium
Gabriele Gillessen-Kaesbach
George McGillivray
P2860
P304
P356
10.1016/J.AJHG.2011.12.001
P407
P50
P577
2012-01-19T00:00:00Z