De-novo mutation in hereditary motor and sensory neuropathy type I.
about
DPY19L2 deletion as a major cause of globozoospermiaHomologous Recombination and Its Role in CarcinogenesisDe novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)The DNA laboratory and neurological practice.Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.Inheritance of CMT1A duplication from a mosaic father.Investigation of peripheral neuropathyMolecular mechanisms for CMT1A duplication and HNPP deletion.Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results.Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patientsChromosomal duplications in bacteria, fruit flies, and humansMolecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A.A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Clinical genetics in neurological disease.Diagnosis of Charcot-Marie-Tooth disease.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.Inherited neuropathies: the interface between molecular genetics and pathology.Hereditary demyelinating motor and sensory neuropathy.Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsiesPrevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.Susceptibility of proliferating cells to benzo[a]pyrene-induced homologous recombination in mice.Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models.Reply to Boylan.A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.Mouse models of myelin diseases.Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine.Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1APrevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsiesWide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12
P2860
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P2860
De-novo mutation in hereditary motor and sensory neuropathy type I.
description
1992 nî lūn-bûn
@nan
1992 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
De-novo mutation in hereditary motor and sensory neuropathy type I.
@ast
De-novo mutation in hereditary motor and sensory neuropathy type I.
@en
De-novo mutation in hereditary motor and sensory neuropathy type I.
@nl
type
label
De-novo mutation in hereditary motor and sensory neuropathy type I.
@ast
De-novo mutation in hereditary motor and sensory neuropathy type I.
@en
De-novo mutation in hereditary motor and sensory neuropathy type I.
@nl
prefLabel
De-novo mutation in hereditary motor and sensory neuropathy type I.
@ast
De-novo mutation in hereditary motor and sensory neuropathy type I.
@en
De-novo mutation in hereditary motor and sensory neuropathy type I.
@nl
P2093
P1433
P1476
De-novo mutation in hereditary motor and sensory neuropathy type I.
@en
P2093
A A Gabreëls-Festen
C van Broeckhoven
E A Janssen
F J Gabreëls
G W Hensels
J E Hoogendijk
J J Martin
L J Valentijn
P de Jonghe
P304
P356
10.1016/0140-6736(92)90668-S
P407
P50
P577
1992-05-01T00:00:00Z