Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
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LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeIdentification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceArthrogryposis: a review and updateZebrafish mutants of the neuromuscular junction: swimming in the gene poolArthrogryposis as a Syndrome: Gene Ontology AnalysisMutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Congenital myasthenic syndromes in 2012.Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeMuscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeCurrent status of the congenital myasthenic syndromes.Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.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.Gene expression profiling of gastrocnemius of "minimuscle" mice.Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndromeMutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.A modified acetylcholine receptor delta-subunit enables a null mutant to survive beyond sexual maturation.Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patientsLifting the lid on unborn lethal Mendelian phenotypes through exome sequencingThe neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Nicotinic acetylcholine receptors in human genetic disease.Human relevance framework evaluation of a novel rat developmental toxicity mode of action induced by sulfoxaflor.Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.Gene expression profiling of rat fetuses exposed to 2-dimensional ultrasound.Prenatal diagnosis of fetal akinesia deformation sequence (FADS): a study of 79 consecutive cases.MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).Neuromotor synapses in Escobar syndrome.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
P2860
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P2860
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Acetylcholine receptor pathway ...... deformation sequence disorders
@ast
Acetylcholine receptor pathway ...... deformation sequence disorders
@en
Acetylcholine receptor pathway ...... deformation sequence disorders
@en-gb
Acetylcholine receptor pathway ...... deformation sequence disorders
@nl
type
label
Acetylcholine receptor pathway ...... deformation sequence disorders
@ast
Acetylcholine receptor pathway ...... deformation sequence disorders
@en
Acetylcholine receptor pathway ...... deformation sequence disorders
@en-gb
Acetylcholine receptor pathway ...... deformation sequence disorders
@nl
prefLabel
Acetylcholine receptor pathway ...... deformation sequence disorders
@ast
Acetylcholine receptor pathway ...... deformation sequence disorders
@en
Acetylcholine receptor pathway ...... deformation sequence disorders
@en-gb
Acetylcholine receptor pathway ...... deformation sequence disorders
@nl
P2093
P2860
P50
P921
P3181
P1476
Acetylcholine receptor pathway ...... deformation sequence disorders
@en
P2093
Anne Michalk
Britta Fiebig
Brunhilde Wirth
Catrin Janetzki
Claus-Eric Ott
Friederike Körber
Giovanni Botta
Jan Miertus
Jutta Becker
Katrin Hoffmann
P2860
P304
P3181
P356
10.1016/J.AJHG.2007.11.006
P407
P577
2008-02-01T00:00:00Z