(Q41756361)

English

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3.

scientific article published on January 1990

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scholarly article

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Europe PubMed Central

PubMed publication ID

8 October 2017

Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p22.3. (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

congenital disorder

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Nance-Horan syndrome

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based on heuristic

inferred from title

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based on heuristic

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author name string

Lewis RA

1

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

Nussbaum RL

2

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Europe PubMed Central

PubMed publication ID

8 October 2017

Stambolian D

3

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

publication date

1 January 1990

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Europe PubMed Central

PubMed publication ID

8 October 2017

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

97

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Europe PubMed Central

PubMed publication ID

8 October 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

110-20; discussion 120-1

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Europe PubMed Central

PubMed publication ID

8 October 2017

The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females

1 reference

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

1 reference

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7 January 2021

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Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers

1 reference

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Mapping X-linked ophthalmic diseases. Provisional assignment of the locus for choroideremia to Xq13-q24

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Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms

1 reference

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Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28.

1 reference

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X-Chromosomal-Linked Sutural Cataracts

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Growth of the components of the human eyeball; II. Comparison of the calculated volumes of the eyes of the newborn and of adults, and their components

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Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

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Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

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Rapid transfer of DNA from agarose gels to nylon membranes

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Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment length polymorphisms.

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Strategies for multilocus linkage analysis in humans

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Report of the Committee on Methods of Linkage Analysis and Reporting

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A primary genetic map of markers of human chromosome 10

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The genetic linkage map of the human X chromosome

1 reference

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Hereditary microcornea and cataract in five generations

1 reference

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based on heuristic

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Congenital cataract with microcornea and Peters' anomaly as expressions of one autosomal dominant gene

1 reference

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Variable expressivity of autosomal dominant microcornea with cataract

1 reference

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Ocular manifestations in a family with probably X-linked cataracts

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Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

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Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

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Two cases of X/autosome translocation in females with incontinentia pigmenti.

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Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation

1 reference

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

1 reference

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Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas

1 reference

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Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci

1 reference

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Contiguous gene syndromes: a component of recognizable syndromes

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Report of the committee on the genetic constitution of the X and Y chromosomes

1 reference

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7 January 2021

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inferred from DOI database lookup

Identifiers

10.1016/S0161-6420(90)32644-1

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 October 2017

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