Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis (Q36595058)

15 August 2017

Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis (English)

1 reference

15 August 2017

M Alpern

2

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author name string

G H Sack

1

1 reference

15 August 2017

T Webster

3

1 reference

15 August 2017

R P Feil

4

1 reference

15 August 2017

J C Morrell

5

1 reference

15 August 2017

G Chen

6

1 reference

15 August 2017

W Chen

7

1 reference

15 August 2017

C T Caskey

8

1 reference

15 August 2017

H W Moser

9

1 reference

15 August 2017

language of work or name

English

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publication date

1 October 1993

1 reference

Proceedings of the National Academy of Sciences of the United States of America

15 August 2017

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15 August 2017

90

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15 August 2017

20

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15 August 2017

9489-9493

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Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

An electrophoretic karyotype for yeast

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Molecular genetics of inherited variation in human color vision

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Characterization of five partial deletions of the factor VIII gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Gene deletions in X-linked muscular dystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Frequent alterations of visual pigment genes in adrenoleukodystrophy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Molecular genetics of human blue cone monochromacy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Color vision defects in adrenomyeloneuropathy

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

The red-green visual pigment gene region in adrenoleukodystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Molecular cytogenetics: toward dissection of the contiguous gene syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

A computer program for linkage analysis of general human pedigrees

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Visual pigment gene changes in adrenoleukodystrophy.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=47594

Fractionation of large mammalian DNA restriction fragments using vertical pulsed-field gradient gel electrophoresis

20 September 2018

1 reference

12 December 2020

Tandem array of human visual pigment genes at Xq28

1 reference

12 December 2020

A 195-kb cosmid walk encompassing the human Xq28 color vision pigment genes

1 reference

12 December 2020

Absorption spectra of the hybrid pigments responsible for anomalous color vision

1 reference

12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.90.20.9489

1 reference

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

8415728

1 reference