The distal arthrogryposes: delineation of new entities--review and nosologic discussion
about
Sheldon-Hall syndromeMutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeArthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritanceMutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromesGain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisArthrogryposis: a review and updateA gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9A variant of Freeman-Sheldon syndrome maps to 11p15.5-pterFreeman-sheldon syndrome presenting with microstomia: a case report and literature reviewClinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Congenital contractural deformities of the fingers and arthropathy.An autosomal dominant multiple pterygium syndrome.A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome.Surgical treatment of scoliosis in a rare disease: arthrogryposis.A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.Multiple congenital contractures (congenital multiple arthrogryposis).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.Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function.Thick and thin filament gene mutations in striated muscle diseases.Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Myosinopathies: pathology and mechanisms.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.Gordon syndrome: literature review and a report of two cases.Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.Distal arthrogryposis type 1: clinical analysis of a large kindred.Distal arthrogryposis syndrome.Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.Severe skew foot deformity in a patient with freeman-sheldon syndromeA new form of autosomal dominant arthrogryposis.Correction of arthrogrypotic clubfoot with a modified Ponseti technique.Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Contractility and kinetics of human fetal and human adult skeletal muscle.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.
P2860
Q21202894-BB219791-FE6E-4D99-B9C4-46CB4EBC7AC8Q24321590-4035EAEE-391B-4451-B9EE-7D3E2E0386FFQ24514975-9C383A18-AEE9-4D15-855D-04CCF8FBFB9AQ24517839-C7AFB7D2-A320-4521-B314-E5A6CAF2680CQ24531960-388D2C1E-97EB-42EB-B83F-EC13B34F92D6Q24599379-F02419F2-7E08-406F-9CD5-BF05A407BF3DQ24644127-E4C90B43-F2D7-44E3-9C17-F3093692A823Q24672586-E7C97BF6-4A4A-488F-BDA9-3F0D736D7E0DQ24681011-28DF58AA-412F-412A-A27D-05F4035141E2Q26859395-192F1D40-7018-48B6-ACB9-11FBE1AAA907Q28265153-5E1A6556-B296-4BE6-B513-6F20C9C8B40FQ30426893-65781788-4094-4188-8C5D-0E9BE73B69F0Q33556290-95B42338-431A-4660-8FEA-1C627AFBCA87Q33592451-5256FE21-A419-44BC-94EC-D38F2A09A56EQ33670316-2BE2E5E1-5DBB-4827-AD45-4D1F58AA3F90Q34347699-E3559302-6BE3-460A-8894-E0C2E1956311Q34394553-BF87CC4E-1F48-4378-A12A-0E043E232DFAQ34588242-548E4D59-67FF-44ED-B814-AA293D69B377Q35095559-0EAF484B-5842-4DCC-A64F-11FEA304AE6DQ36515048-6FF77349-9646-4232-BBEE-134C390C8093Q36582346-5B389DC2-1B0F-4523-A8B1-4FC46FA5837AQ36841149-F104C700-CD56-4A69-A125-F89832474D2EQ37361552-3399F44F-A239-41FF-816A-CFAFE3CFF44EQ37424833-47091183-5928-456F-9FB0-D65DE9A0C298Q37445856-7FE158D9-6911-4B70-A3A1-A69EBE0BB434Q38037315-219725BC-97F3-4192-B777-2A679E5AF510Q38072356-D4F1120E-4384-4003-9140-166B17FBE341Q38216126-EDFC0B55-451D-4EA9-B9D8-AFD617D2FB2DQ39141692-9FD1B32E-4E97-49E4-A7A6-C7F7CCB6456DQ39436059-334BFF58-226D-4CD5-8CA3-F154B3DCC45AQ39678048-235A2FA5-787B-4258-BD53-1DA52BDF7FAEQ40462137-63E3F39D-2C68-46B9-96DF-49D6ABE186C4Q41118027-50210A3D-B2A3-4D9A-9F0A-D0017F8E49B3Q41671809-F40EFC04-CE62-46CF-9365-8E8496D6AB4EQ42115709-1048FAAE-FED6-4E65-9682-CBC17AEB5DD7Q42285203-334CEA41-C59B-4866-AB4A-463F3C9530A3Q42933921-47F7600F-BD84-40FB-9E4F-C317D1AE9286Q45100979-C4D09969-2E9F-4F19-B6AD-BB8E81F280A4Q45906713-BD37A533-7D49-41EF-B4C4-F85CA3D9FD76Q47157588-3189841A-905E-4C77-B09C-962ED015887F
P2860
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
description
1982 nî lūn-bûn
@nan
1982 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1982 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
name
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@ast
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@en
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@nl
type
label
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@ast
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@en
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@nl
prefLabel
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@ast
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@en
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@nl
P2860
P356
P1476
The distal arthrogryposes: delineation of new entities--review and nosologic discussion
@en
P2093
P2860
P304
P356
10.1002/AJMG.1320110208
P407
P577
1982-02-01T00:00:00Z