Linkage analysis in X-linked ocular albinism (Q41690276)

7 October 2017

Linkage analysis in X-linked ocular albinism (English)

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

author name string

Anson-Cartwright L

3

1 reference

7 October 2017

McDowell C

4

1 reference

7 October 2017

R. E. Schnur

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674724

26 October 2022

R. L. Nussbaum

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674724

26 October 2022

L. Anson-Cartwright

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674724

26 October 2022

C. McDowell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674724

26 October 2022

R. G. Worton

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674724

26 October 2022

M. A. Musarella

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674724

26 October 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1674724

26 October 2022

publication date

1 April 1991

1 reference

full work available at URL

7 October 2017

https://api.elsevier.com/content/article/PII:088875439190353G?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

https://api.elsevier.com/content/article/PII:088875439190353G?httpAccept=text/plain

26 October 2022

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

1 reference

7 October 2017

9

1 reference

7 October 2017

4

1 reference

7 October 2017

605-613

1 reference

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

7 October 2017

1

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

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

26 October 2022

2

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

26 October 2022

3

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

26 October 2022

4

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

MspI RFLP detected with chromosome-walk clone pXUT23-SE3.2L from DXS16 in Xp22.1-22.3.

26 October 2022

5

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Visual system anomalies in human ocular albinos

26 October 2022

6

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote

26 October 2022

8

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

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

26 October 2022

9

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Macromelanosomes in X-linked ocular albinism

26 October 2022

11

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

26 October 2022

12

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

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

26 October 2022

14

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

Ocular albinism and Xg

15

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism

26 October 2022

16

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Report of the committee on linkage and gene order

26 October 2022

18

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

An extremely polymorphic locus on the short arm of the human X chromosome with homology to the long arm of the Y chromosome

26 October 2022

20

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

26 October 2022

21

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

Ocular albinism

22

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Sex chromatin and gene action in the mammalian X-chromosome

26 October 2022

23

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter [HGM8 assignment no. DXS 143].

26 October 2022

24

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature

26 October 2022

25

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

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

26 October 2022

26

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

26 October 2022

28

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento

26 October 2022

29

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males

26 October 2022

30

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism

26 October 2022

31

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

Ocular albinism and Xg.

32

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

Ocular albinism and Xg

33

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis

26 October 2022

35

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Steroid sulfatase deficiency and x-linked ichthyosis

26 October 2022

36

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Detection of specific sequences among DNA fragments separated by gel electrophoresis

26 October 2022

37

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

26 October 2022

39

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness

26 October 2022

41

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency)

26 October 2022

42

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

XmnI polymorphism of the human STS gene.

26 October 2022

43

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

An XmnI RFLP at the subtelomeric Xp locus DXS31 [HGM7, LA, 1985]

26 October 2022

45

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Multipoint linkage analysis of steroid sulfatase (X-linked ichthyosis) and distal Xp markers

26 October 2022

46

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

Macromelanosomes in X-linked ocular albinism (XLOA)

26 October 2022

47

1 reference

https://api.crossref.org/works/10.1016/0888-7543(91)90353-G

26 October 2022

Identifiers

1 reference

release_axeaehfx6zga5czhonv4abeqna

7 October 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/axeaehfx6zga5czhonv4abeqna

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference