Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization (Q77848668)

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8 December 2019

title

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization (English)

1 reference

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Charcot-Marie-Tooth disease type 1A

8 December 2019

main subject

1 reference

C D Kashork

1

1 reference

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8 December 2019

J R Lupski

series ordinal

2

1 reference

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8 December 2019

L G Shaffer

series ordinal

3

1 reference

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8 December 2019

publication date

1 May 1999

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8 December 2019

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8 December 2019

volume

19

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8 December 2019

issue

5

1 reference

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8 December 2019

page(s)

446-449

1 reference

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Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

8 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Charcot-Marie-Tooth disease and related inherited neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Trophoblast sampling in early pregnancy. Culture of rapidly dividing cells from immature placental villi

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199905%2919%3A5%3C446%3A%3AAID-PD566%3E3.0.CO%3B2-O

10.1002/(SICI)1097-0223(199905)19:5<446::AID-PD566>3.0.CO;2-O

21 January 2018

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10360513%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference