(Q34517573)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

C A Boucher

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

C A Sargent

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

N A Affara

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 September 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

591-598

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

11 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

The Turner syndrome-associated neurocognitive phenotype maps to distal Xp

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

A first-generation X-inactivation profile of the human X chromosome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Vascular endothelial growth factor D (VEGF-D) is a ligand for the tyrosine kinases VEGF receptor 2 (Flk1) and VEGF receptor 3 (Flt4)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Functional coherence of the human Y chromosome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

A set of ninety-seven overlapping yeast artificial chromosome clones spanning the human Y chromosome euchromatin.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734929

Del (X)(p21.2) in a mother and two daughters with variable ovarian function

7 July 2018

1 reference

12 December 2020

A study of females with deletions of the short arm of the X chromosome

1 reference

12 December 2020

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome

1 reference

12 December 2020

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

1 reference

12 December 2020

The human Y chromosome: a 43-interval map based on naturally occurring deletions

1 reference

12 December 2020

Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome

1 reference

12 December 2020

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.38.9.591

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

release_xxle5ofujnb2jdbuq5pj2ipz74

11 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xxle5ofujnb2jdbuq5pj2ipz74

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11546827%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

PubMed publication ID

11546827

1 reference