DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome
about
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeMolecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionIdentification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLSMolecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.The genetic contribution to carpal tunnel syndrome in women: a twin study.2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Genomic medicine and neurological disease.Detection of clinically relevant exonic copy-number changes by array CGH.Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.Genomic imbalances in mental retardation.Chromosome 15q24 microdeletion syndrome.Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyInherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.Clan genomics and the complex architecture of human disease.Incidental copy-number variants identified by routine genome testing in a clinical population.NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.Disorders of the genome architecture: a review.Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.Genomic disorders 20 years on-mechanisms for clinical manifestations.Carpal tunnel syndrome in inherited neuropathies: A retrospective survey.Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
P2860
Q24683002-A1E92EDA-2005-4E4E-8824-F64DD36FF4BCQ28141491-B06C4A47-AD03-4FBC-8281-7983072AD3D9Q33708568-184E9C88-97CC-443D-AEAB-A5C204A821D4Q33749963-DDD09988-458D-4CF9-B9F3-F41CE206329EQ33845778-94C219ED-AFA6-4D67-9928-ECFB3D48EFF2Q33964444-FAF36086-0901-43A6-AF07-CB70D53867D2Q34020592-E06EABA3-ABFF-4145-B927-D9EE651D623AQ34353994-7088F676-1935-4DCD-B52E-987DCEC1EE38Q34829468-847F8FFD-6FD2-4833-8FAA-CA178FFAD5EAQ35097544-C877E12F-D238-4CE6-85B2-8B7FBD9889D5Q35172112-50B9934A-2DB0-4BFF-B702-EF66D1D9AA65Q35444636-1A723D06-C431-499D-9829-2483CECF55BEQ35445393-C2550A39-06B0-41FB-B9B1-CD275DA926D7Q35744734-3B621625-AC20-4E91-BEB6-B2C6B6788F51Q35875197-A315BC5F-D5E9-460A-AEEE-9799DC5604B2Q35984327-289CC4CA-0D2A-48EE-95ED-963087DCAF47Q36507166-CF9812E2-0BCF-4D45-8003-6278D5F94120Q36851578-254B4AF5-0797-48DA-B383-65747EFFE826Q36995191-D4A338CB-70C8-4C51-9370-3BE90AE85B1CQ37138653-7E6F38AC-4228-4745-97A9-1E453E73A16BQ37223724-DB88DE45-B56A-4F92-976E-8DC1CAAD941EQ38275855-D0254F98-2100-4EF3-B0B9-E2AB0BAED396Q41643440-2784426A-2A78-4013-87F9-0290EAC71525Q41936282-D5C00D21-4E35-4711-A45E-DC1F72AC5B6AQ46300376-C12ACD4B-B91E-412C-8137-3ECCD3E72688Q48152394-D81EFC76-5A26-4048-AEAF-FC9DD4145190Q53166453-8D1928D9-1399-42D8-8055-F29E14071704
P2860
DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@ast
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@en
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@nl
type
label
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@ast
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@en
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@nl
prefLabel
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@ast
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@en
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@nl
P2093
P2860
P356
P1476
DNA rearrangements on both hom ...... ominant carpal tunnel syndrome
@en
P2093
A S Spikes
C D Kashork
J R Lupski
L G Shaffer
S K Shapira
S T Iannaccone
P2860
P304
P356
10.1086/302240
P407
P577
1999-02-01T00:00:00Z