(Q52202717)

27 April 2018

title

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

1 reference

27 April 2018

author name string

Pellegrino JE

1

1 reference

27 April 2018

Pellegrino L

2

1 reference

27 April 2018

Spinner NB

3

1 reference

27 April 2018

Sladky J

4

1 reference

27 April 2018

Chance PF

5

1 reference

27 April 2018

Zackai EH

6

1 reference

27 April 2018

publication date

1 February 1996

1 reference

27 April 2018

American Journal of Medical Genetics Part A

published in

1 reference

27 April 2018

volume

61

1 reference

27 April 2018

page(s)

377-381

1 reference

27 April 2018

issue

4

1 reference

27 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

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

Terminal deletion of the long arm of chromosome 10: case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

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%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

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%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

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%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

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%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

Chromosome 10qter deletion syndrome: a review and report of three new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

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%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

Monosomy 10qter due to a balanced maternal translocation: t(10;8)(q23;p23)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

Brief clinical report: the dup(17p) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

Is there a monosomy 10qter syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

Deletions of the long arm of chromosome 10

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

A genetic map of human chromosome 17p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960202%2961%3A4%3C377%3A%3AAID-AJMG13%3E3.0.CO%3B2-P

10.1002/(SICI)1096-8628(19960202)61:4<377::AID-AJMG13>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

27 April 2018

PubMed ID

8834051

1 reference

27 April 2018