(Q52027125)

English

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval.

scientific article published in April 1994

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval. (English)

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

X-linked recessive chondrodysplasia punctata

0 references

2

object named as

A Meindl

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

author name string

A Klink

1

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

H Hellebrand

3

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

G A Rappold

4

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

publication date

1 April 1994

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

93

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

4

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

463-466

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

https://scigraph.springernature.com/pub.10.1007/bf00201677

0 references

AK1 detects a VNTR locus in the pseudoautosomal region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family with X-linked ichthyosis and hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-range restriction map of the terminal part of the short arm of the human X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of Chondrodysplasia punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chondrodysplasia punctata-23 cases of a mild and relatively common variety

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High levels of de novo methylation and altered chromatin structure at CpG islands in cell lines.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping the limits of the human pseudoautosomal region and a candidate sequence for the male-determining gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PA2.1 detects a TaqI polymorphism in the pseudoautosomal region

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chondrodysplasia punctata with X;Y translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physical mapping of genes and sequences at the end of the human X chromosome short arm.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A DNA fragment from the human X chromosome short arm which detects a partially homologous sequence on the Y chromosomes long arm.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systematic cloning of human minisatellites from ordered array charomid libraries.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pseudoautosomal regions of the human sex chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8168818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201677

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/8168818

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