(Q33683279)

28 July 2017

1 reference

title

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

1 reference

28 July 2017

1 reference

Hatchwell E

1

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

33

1 reference

28 July 2017

issue

3

1 reference

28 July 2017

page(s)

177-183

1 reference

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

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=1051863

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Proteus syndrome: clinical evidence for somatic mosaicism and selective review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Molecular cytogenetic analysis of a duplication Xp in a male: further delineation of a possible sex influencing region on the X chromosome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Incontinentia pigmenti nomenclature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Inherited partial X chromosome duplication in a mentally retarded male

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Two cases of X/autosome translocation in females with incontinentia pigmenti.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Lyonization and the lines of Blaschko

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Incontinentia pigmenti (IP) and r(X). Tentative mapping of the IP locus to the X juxtacentromeric region.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

A de novo X;13 translocation with abnormal phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

A new syndrome with mental retardation, short stature and an Xq duplication.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

The gene for incontinentia pigmenti is assigned to Xq28.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Familial Hypomelanosis of Ito

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051863

A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression

30 October 2018

1 reference

12 December 2020

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28

1 reference

12 December 2020

Evidence for two active X chromosomes in a human XXY triploid

1 reference

12 December 2020

Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation

1 reference

12 December 2020

Incontinentia pigmenti achromians (Ito)

1 reference

12 December 2020

Inherited tandem duplication dup(X) (q131-q212) in a male proband

1 reference

12 December 2020

Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?

1 reference

12 December 2020

Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma

1 reference

12 December 2020

Diploid/triploid mixoploidy and hypomelanosis of Ito

1 reference

12 December 2020

Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation

1 reference

12 December 2020

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1 reference

12 December 2020

The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization

1 reference

12 December 2020

Linkage studies do not confirm the cytogenetic location of incontinentia pigmenti on Xp11

1 reference

12 December 2020

Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man

1 reference

12 December 2020

Hypomelanosis of Ito associated with chromosomal translocation involving Xp11

1 reference

12 December 2020

Physical mapping of an Xq-proximal interstitial duplication in a male

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.3.177

1 reference

28 July 2017

1 reference

28 July 2017

1 reference