(Q33674965)

28 July 2017

title

Asymmetry and skin pigmentary anomalies in chromosome mosaicism (English)

1 reference

28 July 2017

Woods CG

1

1 reference

28 July 2017

Bankier A

2

1 reference

28 July 2017

Curry J

3

1 reference

28 July 2017

Sheffield LJ

4

1 reference

28 July 2017

Slaney SF

5

1 reference

28 July 2017

Smith K

6

1 reference

28 July 2017

Voullaire L

7

1 reference

28 July 2017

Wellesley D

8

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1994

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

31

1 reference

28 July 2017

issue

9

1 reference

28 July 2017

page(s)

694-701

1 reference

Human chromosome 21: genome mapping and exploration, circa 1993.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

46,XY/47,XY, + 17p + mosaicism in amniocytes associated with fetal abnormalities despite normal fetal blood karyotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Epidermal mosaicism and Blaschko's lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Lyonization and the lines of Blaschko

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Chromosome mosaicism in hypomelanosis of Ito.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Hypomelanosis of Ito in Three Cases with Autism and Autistic-like Conditions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

The lines of Blaschko: a review and reconsideration: Observations of the cause of certain unusual linear conditions of the skin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Trisomy 14 mosaicism: case report and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Diploid-triploid mixoploidy: clinical and cytogenetic aspects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050079

Incontinentia pigmenti achromians (Ito)

30 October 2018

1 reference

12 December 2020

A Canadian collaborative study of mosaicism in amniotic fluid cell cultures

1 reference

12 December 2020

Hypomelanosis of Ito: association with a chromosomal abnormality

1 reference

12 December 2020

Diploid/triploid mixoploidy and hypomelanosis of Ito

1 reference

12 December 2020

A final word on the tricho-rhino-phalangeal syndromes

1 reference

12 December 2020

Mosaic tetraploidy in a two-year-old female

1 reference

12 December 2020

Incontinentia pigmenti

1 reference

12 December 2020

Hypomelanosis of Ito (incontinentia pigmenti achromians): a neurocutaneous syndrome

1 reference

12 December 2020

Hypomelanosis of Ito: spectrum of the disease

1 reference

12 December 2020

Mitotic disturbance associated with mosaic aneuploidies

1 reference

12 December 2020

Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians)

1 reference

12 December 2020

Hypomelanosis of Ito with trisomy 18 mosaicism

1 reference

12 December 2020

1 reference

12 December 2020

Second Robert J Gorlin Conference on Human Dysmorphology, Minneapolis, USA. 7-9 November 1992

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.9.694

1 reference

release_jv4aed4jmnc5jpbg7q75pu7ery

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jv4aed4jmnc5jpbg7q75pu7ery

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1050079

1 reference

28 July 2017

1 reference