(Q24538852)

2

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P A Wick

3

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M Keller

4

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P J Benke

5

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M J Edwards

6

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A W Grix

7

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A Hockey

8

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J H Jung

9

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K K Kidd

10

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M Kistenmacher

11

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A V Levin

12

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R A Lewis

13

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M A Musarella

14

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R W Nowakowski

15

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S J Orlow

16

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R S Pagon

17

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D A Pillers

18

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H H Punnett

19

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G E Quinn

20

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K Tezcan

21

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J Wagstaff

22

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R G Weleber

American Journal of Human Genetics

23

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language of work or name

English

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publication date

April 1998

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published in

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volume

62

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page(s)

800-9

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issue

4

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cites work

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Molecular genetics of inherited variation in human color vision

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Sex chromatin and gene action in the mammalian X-chromosome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Nystagmus in a female carrier of ocular albinism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Albinism in childhood: a flash VEP and ERG study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Deletion mapping and a highly reduced radiation hybrid in the Xp22.3-p22.2 region

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

The nature and origin of the melanin macroglobule.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

The appearance, density and distribution of melanocytes in human embryonic and fetal skin revealed by the anti-melanoma monoclonal antibody, HMB-45.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Linkage analysis in X-linked ocular albinism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

Visual system anomalies in human ocular albinos

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377018

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

30 May 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Dopa reaction test in hair bulbs of fetuses and its application to the prenatal diagnosis of albinism.

1 reference

12 December 2020

Genetic counselling in X-linked ocular albinism: clinical features of the carrier state

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/301776

1 reference

release_amki7ulj75aitj4tpha5euncku

3621365

Fatcat ID

0 references

3621365

1 reference

1 reference

1 reference