Associated Papers
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
Altin N et al.
Human Mutation, 2025
Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.
Illés A et al.
Children (basel, Switzerland), 2024
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.
Khurshid S et al.
Nature Communications, 2023
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
Huang R et al.
Human Genetics, 2023
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Dabaj I et al.
Frontiers in Genetics, 2022
The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.
Lu J et al.
Journal of Clinical Laboratory Analysis, 2021
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Calame DG et al.
Neurology. Genetics, 2021
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Reischer T et al.
Prenatal Diagnosis, 2020
[Genetic analysis and prenatal diagnosis of a pregnant woman with Sheldon-Hall syndrome].
Tang K et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Sandaradura SA et al.
Human Mutation, 2018
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
Wei B et al.
Gene, 2016
Digitotalar dysmorphism: Molecular elucidation.
Vorster AA et al.
South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2016
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
Daly SB et al.
Molecular Syndromology, 2014
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A et al.
Human Molecular Genetics, 2014
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2013
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G et al.
Journal of Medical Genetics, 2011
Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett CA et al.
Clinical Orthopaedics and Related Research, 2009
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.
Ochala J
Journal of Molecular Medicine (berlin, Germany), 2008
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
Clarke NF
Advances in Experimental Medicine and Biology, 2008
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Jiang M et al.
Prenatal Diagnosis, 2007
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
Robinson P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
Jiang M et al.
Human Genetics, 2006
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
Sung SS et al.
American Journal of Human Genetics, 2003
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.
Bamshad M et al.
American Journal of Human Genetics, 1994
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N et al.
European Journal of Medical Genetics, 0