(Q52225224)

27 April 2018

title

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12. (English)

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27 April 2018

author name string

M Upadhyaya

1

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27 April 2018

S H Roberts

2

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27 April 2018

J Farnham

3

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27 April 2018

J C MacMillan

4

1 reference

27 April 2018

A Clarke

5

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27 April 2018

J P Heath

6

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27 April 2018

I C Hodges

7

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27 April 2018

P S Harper

8

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27 April 2018

publication date

1 May 1993

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27 April 2018

published in

Human Genetics

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27 April 2018

volume

91

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27 April 2018

issue

4

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27 April 2018

page(s)

392-394

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27 April 2018

Hereditary motor and sensory neuropathies

cites work

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in south Wales families

1 reference

12 December 2020

De novo tandem duplication 17p11 leads to cen.

1 reference

12 December 2020

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

1 reference

12 December 2020

An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making

1 reference

12 December 2020

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

1 reference

12 December 2020

Trembler mouse carries a point mutation in a myelin gene

1 reference

12 December 2020

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

12 December 2020

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

12 December 2020

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

1 reference

12 December 2020

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

12 December 2020

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

1 reference

12 December 2020

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

1 reference

12 December 2020

A rapid banding technique for human chromosomes

1 reference

12 December 2020

An international system for human cytogenetic nomenclature (1978), ISCN (1978). Report of the Standing Committee on Human Cytogenetic Nomenclature

1 reference

12 December 2020

Rapid isolation of eukaryotic DNA

1 reference

12 December 2020

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

12 December 2020

A 90 kb DNA deletion associated with neurofibromatosis type 1.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00217365

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27 April 2018

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27 April 2018