(Q33595450)

28 July 2017

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

1 reference

28 July 2017

1 reference

Dennis NR

1

1 reference

28 July 2017

Collins AL

2

1 reference

28 July 2017

Crolla JA

3

1 reference

28 July 2017

Cockwell AE

4

1 reference

28 July 2017

Fisher AM

5

1 reference

28 July 2017

Jacobs PA

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1993

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

30

1 reference

28 July 2017

482-486

1 reference

28 July 2017

6

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

45X/46X,r(X) with syndactyly and severe mental retardation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

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=1016421

Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

A cytogenetic and molecular reappraisal of a series of patients with Turner's 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=1016421

Mental retardation in Turner 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=1016421

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner 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=1016421

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016421

Linkage relationship between incontinentia pigmenti (IP2) and nine terminal X long arm markers

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8326492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of the origin of ring/marker chromosomes in patients with Ullrich-Turner syndrome using X and Y specific alpha satellite DNA probes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8326492

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.6.482

1 reference

28 July 2017

1 reference

28 July 2017

1 reference