相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Margaret J. McMillin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
Margaret J. McMillin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis
Klaus Dieterich et al.
HUMAN MOLECULAR GENETICS (2013)
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
Bertrand Coste et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
A dominantly inherited form of arthrogryposis multiplex congenita with unusual dermatoglyphics
George H. Sack
CLINICAL GENETICS (2010)
Mechanosensitive Channels: In Touch with Piezo
Rui Xiao et al.
CURRENT BIOLOGY (2010)
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
Christina A. Gurnett et al.
HUMAN MOLECULAR GENETICS (2010)
Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels
Bertrand Coste et al.
SCIENCE (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Juvenile Macular Dystrophy and Forearm Pronation-Supination Restriction Presenting With Features of Distal Arthrogryposis Type 5
Marco Castori et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Arthrogryposis: A Review and Update
Michael Bamshad et al.
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME (2009)
Pulmonary disease is a component of distal arthrogryposis type 5
Marc S. Williams et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation
H. Tajsharghi et al.
NEUROLOGY (2007)
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman- Sheldon syndrome and Sheldon-Hall syndrome
RM Toydemir et al.
NATURE GENETICS (2006)
Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia
RK Beals et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Distal arthrogryposis type IIB: Unreported ophthalmic findings
J Sahni et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
SS Sung et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
分享论文
