Related references
Note: Only part of the references are listed.ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
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Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy
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EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction
Oystein L. Holla et al.
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De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
Willa Thorson et al.
HUMAN GENETICS (2014)
Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation
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JOURNAL OF AAPOS (2014)
Congenital Fixed Dilated Pupils Due to ACTA2-Multisystemic Smooth Muscle Dysfunction Syndrome
Francoise M. J. Roulez et al.
JOURNAL OF NEURO-OPHTHALMOLOGY (2014)
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
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PLOS GENETICS (2014)
ACTA2 Mutation With Childhood Cardiovascular, Autonomic and Brain Anomalies and Severe Outcome
Marije E. C. Meuwissen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Neonatal Stroke and Progressive Leukoencephalopathy in a Child With an ACTA2 Mutation
Ahsan N. V. Moosa et al.
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Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review
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PEDIATRIC SURGERY INTERNATIONAL (2013)
R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations
J. Richer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
Pinki Munot et al.
BRAIN (2012)
Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome
Hans Ulrik Moller et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2012)
Segregation of a Missense Variant in Enteric Smooth Muscle Actin γ-2 With Autosomal Dominant Familial Visceral Myopathy
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GASTROENTEROLOGY (2012)
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm
Maha Al-Mohaissen et al.
VASCULAR MEDICINE (2012)
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome
Stefanie Weber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Analysis of ACTA2 in European Moyamoya disease patients
Constantin Roder et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2011)
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome
Jan-Hendrik Gosemann et al.
PEDIATRIC SURGERY INTERNATIONAL (2011)
De Novo ACTA2 Mutation Causes a Novel Syndrome of Multisystemic Smooth Muscle Dysfunction
Dianna M. Milewicz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
Raj P. Kapur et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2010)
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces
Hanka Venselaar et al.
BMC BIOINFORMATICS (2010)
Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease
Dong-Chuan Guo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
Jill Clayton-Smith et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
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NATURE GENETICS (2007)
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
LM Zhu et al.
NATURE GENETICS (2006)
Multiple functional defects in peripheral autonomic organs in mice lacking muscarinic acetylcholine receptor gene for the M3 subtype
M Matsui et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Smooth-muscle contraction without smooth-muscle myosin
I Morano et al.
NATURE CELL BIOLOGY (2000)