(Q52538823)

2 May 2018

title

Functional Xp disomy and hypomelanosis of Ito. (English)

1 reference

2 May 2018

author name string

Rivera H

1

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2 May 2018

Correa-Cerro LS

2

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2 May 2018

Robinson DO

3

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2 May 2018

Crolla JA

4

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2 May 2018

publication date

1 January 2000

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2 May 2018

Archives of Medical Research

published in

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2 May 2018

volume

31

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2 May 2018

issue

1

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2 May 2018

page(s)

88-92

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2 May 2018

Hypomelanosis of Ito: diagnostic criteria and report of 41 cases

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Functional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

A case revisited: recent presentation of incontinentia pigmenti in association with a previously reported X; autosome translocation

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples

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https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation

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https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Three patients with ring (X) chromosomes and a severe phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Evolution of alpha satellite

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): further evidence of localization at Xp11.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27ß methylation analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

Nonhomologous Robertsonian translocations form predominantly during female meiosis

1 reference

https://api.crossref.org/works/10.1016%2FS0188-4409%2899%2900081-8

7 January 2021

10.1016/S0188-4409(99)00081-8

Identifiers

DOI

1 reference

2 May 2018

1 reference

2 May 2018