(Q34719918)

4 August 2017

title

Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? (English)

1 reference

4 August 2017

1 reference

Pellegrino JE

1

1 reference

4 August 2017

Schnur RE

2

1 reference

4 August 2017

Kline R

3

1 reference

4 August 2017

Zackai EH

4

1 reference

4 August 2017

Spinner NB

5

1 reference

4 August 2017

publication date

1 October 1995

1 reference

4 August 2017

1 reference

4 August 2017

volume

96

1 reference

4 August 2017

issue

4

1 reference

4 August 2017

page(s)

485-489

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00191813

4 August 2017

exact match

0 references

cites work

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci

1 reference

12 December 2020

Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome

1 reference

12 December 2020

Chromosome mosaicism in hypomelanosis of Ito.

1 reference

12 December 2020

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

1 reference

12 December 2020

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

1 reference

12 December 2020

Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus

1 reference

12 December 2020

Hypomelanosis of Ito: involvement of chromosome aberrations in this syndrome

1 reference

12 December 2020

Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito.

1 reference

12 December 2020

Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism

1 reference

12 December 2020

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1.

1 reference

12 December 2020

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

12 December 2020

Terminal deletions of the long arm of chromosome 7: five new cases

1 reference

12 December 2020

A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series

1 reference

12 December 2020

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

12 December 2020

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

1 reference

12 December 2020

Cutaneous findings in ring chromosome 7 syndrome

1 reference

12 December 2020

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

1 reference

12 December 2020

White mutants in mice shedding light on humans

1 reference

12 December 2020

Hypopigmentation in Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

1 reference

12 December 2020

Hypomelanosis of Ito: spectrum of the disease

1 reference

12 December 2020

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

12 December 2020

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

1 reference

12 December 2020

Ring chromosome 7: report of the fifth case

1 reference

12 December 2020

The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.

1 reference

12 December 2020

Hypomelanosis of Ito: diagnostic criteria and report of 41 cases

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00191813

1 reference

Dimensions Publication ID

4 August 2017

1018002097

0 references

1 reference