about
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityGain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisMutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesDe novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthMolecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Hunting human disease genes: lessons from the past, challenges for the future.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Cervical stenosis in a patient with arthrogryposis: case reportArthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.Damage-induced neuronal endopeptidase (DINE) enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury.Molecular Mechanisms That Contribute to Bone Marrow PainIntegrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulationA Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.ECEL1mutation causes fetal arthrogryposis multiplex congenita
P2860
Q24339372-09EC9336-57B5-4377-8D5D-4CC6936FB812Q24599379-3F16D4DA-4E3F-4505-B125-9F85FF58164BQ28115931-8D865B54-5A64-472B-AD14-B7100D1A5F41Q30403401-EAF0F023-96BF-4245-99DC-20C6A1F82B78Q30426893-17E93443-70DD-4A18-9776-F0850DF4C630Q34299915-F021FFF3-5E57-42C4-B813-871EACF43567Q34478008-9C27AFBF-3845-49A1-822F-6113BAB0139AQ35095559-E589557B-1CDF-46E4-8713-EA7D4986CE27Q36292736-7EB777E4-C41F-4C14-BDB5-716D8216D16AQ36515048-75D4D0F1-1638-45BE-A5CE-E0665D910B35Q36844560-53083B23-9D69-4C2F-8E68-257356F4E7E3Q37445856-8F4B2010-F0DC-4FF4-81C8-B4B13ABFCCFEQ38125937-C81E7E76-1F0C-4796-97D0-1821FC759361Q38554300-B551D46C-65F2-441E-9429-00210B4C86C6Q39141692-D592E190-3874-4C29-8A6A-173027D39BB9Q41083969-6E0D51C0-A492-452E-A7DC-104FF9CAE213Q41684342-8524BED7-FFDC-45A5-9057-95FAB55430EFQ42183268-A59891A3-E09A-44CC-BFF5-116383A06130Q42756230-B06B2368-423F-47AE-8712-A83CB6B9A7F7Q47157588-655663FB-9550-4E5A-9B6F-394FC1C89866Q48854034-8E7BC060-9EC4-405E-B038-20AB24D93839Q50856616-1171F6B3-B6B7-4D2D-9D9B-B45CAAA02898Q55059311-32C048C0-461A-43FF-8FC9-71B37F40513FQ58815641-FCB6A7E6-E8E5-4026-8EB0-C9C8B2B5E796
P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին 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 ECEL1 cause distal arthrogryposis type 5D
@ast
Mutations in ECEL1 cause distal arthrogryposis type 5D
@en
type
label
Mutations in ECEL1 cause distal arthrogryposis type 5D
@ast
Mutations in ECEL1 cause distal arthrogryposis type 5D
@en
prefLabel
Mutations in ECEL1 cause distal arthrogryposis type 5D
@ast
Mutations in ECEL1 cause distal arthrogryposis type 5D
@en
P2093
P2860
P50
P1476
Mutations in ECEL1 cause distal arthrogryposis type 5D
@en
P2093
Anita E Beck
David J Harris
Dawn L Earl
Deborah A Nickerson
Dorothy K Grange
Gloria R Gogola
Heather C Mefford
Heidi I Gildersleeve
Jacqueline T Hecht
James M Swanson
P2860
P304
P356
10.1016/J.AJHG.2012.11.014
P407
P577
2012-12-20T00:00:00Z