(Q52201498)

26 April 2018

title

Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? (English)

1 reference

26 April 2018

main subject

Smith-Magenis syndrome

1 reference

Brown A

1

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26 April 2018

Phelan MC

2

1 reference

26 April 2018

Patil S

3

1 reference

26 April 2018

Crawford E

4

1 reference

26 April 2018

Rogers RC

5

1 reference

26 April 2018

Schwartz C

6

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26 April 2018

publication date

1 May 1996

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26 April 2018

American Journal of Medical Genetics Part A

published in

1 reference

26 April 2018

volume

63

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26 April 2018

issue

2

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26 April 2018

page(s)

373-377

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26 April 2018

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

cites work

1 reference

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Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 January 2018

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Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

21 January 2018

1 reference

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Brief clinical report: the dup(17p) syndrome

21 January 2018

1 reference

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Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding

21 January 2018

1 reference

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

21 January 2018

1 reference

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Duplication (17p) in a child with an isodicentric (17p) chromosome

21 January 2018

1 reference

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Identification of each human chromosome with a modified Giemsa stain

21 January 2018

1 reference

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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

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Pure trisomy 17p in 60% cells

21 January 2018

1 reference

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A genetic map of human chromosome 17p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960517%2963%3A2%3C373%3A%3AAID-AJMG9%3E3.0.CO%3B2-U

10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

26 April 2018

1 reference

26 April 2018