(Q35200261)

English

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome (English)

1 reference

Europe PubMed Central

7 August 2017

chronic granulomatous disease

1 reference

based on heuristic

inferred from title

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

author name string

U Francke

1

1 reference

Europe PubMed Central

7 August 2017

H D Ochs

2

1 reference

Europe PubMed Central

7 August 2017

B de Martinville

3

1 reference

Europe PubMed Central

7 August 2017

J Giacalone

4

1 reference

Europe PubMed Central

7 August 2017

V Lindgren

5

1 reference

Europe PubMed Central

7 August 2017

C Distèche

6

1 reference

Europe PubMed Central

7 August 2017

R A Pagon

7

1 reference

Europe PubMed Central

7 August 2017

M H Hofker

8

1 reference

Europe PubMed Central

7 August 2017

G J van Ommen

9

1 reference

Europe PubMed Central

7 August 2017

P L Pearson

10

1 reference

Europe PubMed Central

7 August 2017

language of work or name

0 references

publication date

1 March 1985

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

37

1 reference

Europe PubMed Central

7 August 2017

250-267

1 reference

Europe PubMed Central

7 August 2017

2

1 reference

Europe PubMed Central

7 August 2017

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Deformability and cell membrane properties of erythrocytes in Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Regional localization on the human X of DNA segments cloned from flow sorted chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine Transcarbamylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Chronic granulomatous disease, a heterogeneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

A strategy to reveal high-frequency RFLPs along the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Segmental aneuploidy and the genetic gross structure of the Drosophila genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

The anatomy and function of a segment of the X chromosome of Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Assignment by Deletion of Human Red Cell Acid Phosphatase Gene Locus to the Short Arm of Chromosome 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Enzyme electrophoresis on cellulose acetate gel: zymogram patterns in mgh-mouse and man--Chinese hamster somatic cell hybrids.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

The human gene for beta glucuronidase is on chromosome 7.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Retinitis pigmentosa. Visual loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

A deletion map of cyc1 mutants and its correspondence to mutationally altered iso-1-cytochromes c of yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Linkage relationship of the Xg and Xk loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Absence of a newly described cytochrome b from neutrophils of patients with chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

13 July 2018

SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

26 September 2018

Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

26 September 2018

The NBT slide test: A simple screening method for detecting chronic granulomatous disease and female carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684578

26 September 2018

Quantitative leukocyte iodination

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kell phenotypes in chronic granulomatous disease: a potential trnsfusion hazard

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X g and X chromosome inactivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage studies in X-linked retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine]

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne dystrophy: alteration in muscle plasma membrane structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene dose effect: intraband mapping of the <i>LDH A </i>locus using cells from four individuals with different interstitial deletions of 11p

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simultaneous identification of chromatid replication and of human chromosomes in metaphases of man-mouse somatic cell hybrids

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of genes for chronic granulomatous disease and Xg

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated serum creatine phosphokinase in subjects with McLeod syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage between chronic granulomatous disease and Duchenne's muscular dystrophy?

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage relationship between the Xg blood group system and two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subcellular localization of the human neutrophil NADPH oxidase. b-Cytochrome and associated flavoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative analysis of mouse-human hybrids with rearranged chromosomes 1 by in situ hybridization and southern blotting: High-resolution mapping of NRAS, NGFB, and AMY on human chromosome 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/4039107

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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