(Q69910395)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

glycerol kinase deficiency

6 October 2019

main subject

1 reference

F Marlhens

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

J Chelly

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

J C Kaplan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

D Lefrancois

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

J P Harpey

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

B Dutrillaux

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

publication date

1 December 1987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

page(s)

379-383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2891606%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00291430

6 October 2019

exact match

0 references

cites work

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes

1 reference

12 December 2020

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

1 reference

12 December 2020

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

12 December 2020

A new technic of analysis of the human karyotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

1 reference

12 December 2020

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

1 reference

12 December 2020

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

12 December 2020

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

1 reference

12 December 2020

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

1 reference

12 December 2020

Long-range restriction map around the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

1 reference

12 December 2020

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

1 reference

12 December 2020

DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome

1 reference

12 December 2020

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

1 reference

12 December 2020

High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization

1 reference

12 December 2020

Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci

1 reference

12 December 2020

New Giemsa method for the differential staining of sister chromatids

1 reference

12 December 2020

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

1 reference

12 December 2020

Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy

1 reference

12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

12 December 2020