Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. - Wikidata - wikimedia - TriplyDB

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

http://www.wikidata.org/entity/Q33534079

about

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases Aneusomy 17 in breast cancer: its role in HER-2/neu protein expression and implication for clinical assessment of HER-2/neu status.Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth.Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine.Fontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy The phenotype of the Gly94fsX222 PMP22 insertion

P2860

Q24672496-67A8D082-1DA6-46C6-84B4-064C7958E1C2 Q24678661-36B06472-7C6F-4E8F-9D7F-89BCD1B2027D Q28302565-E60185A6-7A64-425C-952A-23AE438E7D33 Q34043765-D23CBD21-A157-40A3-8C8D-CDCC187AADFF Q34827861-3CDA45F5-900B-44A6-A66D-2EDC5DE5EE2F Q38457772-64B5A01B-B4E8-45DA-B125-91AB126D0F49 Q39785427-903458DB-01DF-4AC1-A60B-E1F3D4870EDD Q47229931-13D5A235-76E8-48CD-8FE3-2D429E74FC41 Q55207465-76EA0BF6-033B-4298-B055-953B54F1F5E2 Q58130386-29CBCC8A-2E74-4B23-BBDB-0117BEDE25A6 Q58183099-CAFAE618-0CA7-414C-9D33-BE4683DA049B

P2860

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

http://www.wikidata.org/entity/Q33534079

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

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@ast

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@en

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@nl

type

label

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@ast

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@en

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@nl

prefLabel

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@ast

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@en

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@nl

P1433

Q33534079-99280254-10D0-45DE-8000-32F7F33DD7A1

P1476

Q33534079-CFA877F6-E2CF-4EAE-932C-0EB4599C33EC

P2093

Q33534079-FE07D424-DB5D-4F45-A64C-66D2B0A558D1

P2860

Q33534079-09B7C33A-D1E1-4E2D-AD0A-D2EE1DE7B422

Q33534079-2248E232-82BE-4B50-8C8D-15D0EF8B945C

Q33534079-2A505CFC-DF92-4915-84E4-8DD383DA3DE9

Q33534079-2F75351D-501C-4304-8709-336D368DBD8C

Q33534079-35412E8C-2E6D-459C-8E99-D88BA82B5C2F

Q33534079-35588411-3E59-4702-951A-221EE59EEF03

Q33534079-36E5EEE2-0C36-42C6-AF7D-C8B6DC2F0BE9

Q33534079-3ABD45D6-E086-4FE4-AA37-FDD33D9BBF2E

Q33534079-3C6BC9BB-DF40-4BB4-822A-0BDB8980198B

Q33534079-3CCB0D2E-3C3D-46D2-9922-492460726495

P2888

Q33534079-1A855C70-8A88-47B5-8F53-6A6D8B2AA5F5

P304

Q33534079-5EA75491-750E-48B1-A97C-AB609ADD26B0

P31

Q33534079-75C28E46-D849-49F1-B3B3-0A94FBD38BEE

P356

Q33534079-77C25FAD-7D99-444A-B40B-E6E83655DA0C

P407

Q33534079-F714CD05-CF58-4FD5-A573-F132399E7A1B

P433

Q33534079-C0D8AE42-1B88-45EE-BFE2-CD2B6DE59A78

P478

Q33534079-5547D1B5-996D-47DA-A25F-4E7B8D31FE48

P577

Q33534079-7107100F-5294-4400-9F50-5D69587CAA8C

P6179

Q33534079-84A15C56-5B77-48DE-9DD9-3E9E77F0E88C

P698

Q33534079-0E5D4294-2F6A-4B0F-87AC-74EFD8C5545B

P356

00006450-199902000-00001

P1433

Pediatric Research

P1476

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.

@en

P2093

Lupski JR

http://www.w3.org/2001/XMLSchema#string

P2860

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Connexin mutations in X-linked Charcot-Marie-Tooth disease

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

A myelin protein is encoded by the homologue of a growth arrest-specific gene

De-novo mutation in hereditary motor and sensory neuropathy type I.

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.

P2888

00006450-199902000-00001

P304

159-165

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1203/00006450-199902000-00001

http://www.w3.org/2001/XMLSchema#string

P407

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

45

http://www.w3.org/2001/XMLSchema#string

P577

1999-02-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P6179

1064214096

http://www.w3.org/2001/XMLSchema#string

P698

10022584

http://www.w3.org/2001/XMLSchema#string