(Q24678018)

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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

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scholarly article

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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 (English)

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ocular albinism

1 reference

based on heuristic

inferred from title

author name string

R E Schnur

1

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B J Trask

2

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G van den Engh

3

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H H Punnett

4

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M Kistenmacher

5

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M A Tomeo

6

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R E Naids

7

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R L Nussbaum

8

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language of work or name

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publication date

November 1989

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American Journal of Human Genetics

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45

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5

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706-20

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Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

7 April 2017

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

7 April 2017

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

7 April 2017

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

7 April 2017

Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

7 April 2017

Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

7 April 2017

Sex chromatin and gene action in the mammalian X-chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Measurable linkage between ocular albinism and Xg.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

A highly polymorphic locus in human DNA revealed by cosmid-derived probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Preparation and bivariate analysis of suspensions of human chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

X-linked severe combined immunodeficiency: localization within the region Xq13.1-q21.1 by linkage and deletion analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

Improved resolution of flow cytometric measurements of Hoechst- and chromomycin-A3-stained human chromosomes after addition of citrate and sulfite

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

X-linked inheritance of ocular albinism with late-onset sensorineural deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

The Rud syndrome: ichthyosis, hypogonadism, mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

Chondrodysplasia punctata with X;Y translocation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

Genetic mapping of four DNA markers (DXS16, DXS43, DXS85, and DXS143) from the p22 region of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

Molecular cytogenetics: toward dissection of the contiguous gene syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

A family with X-linked ichthyosis and hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

30 May 2018

Genetic studies of ocular albinism in a large Virginia kindred.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 November 2018

Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 November 2018

Ocular albinism and Xg.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683435

28 November 2018

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular albinism and Xg

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular albinism and Xg

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Macromelanosomes in X-linked ocular albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage studies in a family with X-linked recessive ichthyosis employing a cloned DNA sequence from the distal short arm of the X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steroid Sulphatase Deficiency is Present in Patients with the Syndrome’ Ichthyosis and Male Hypogonadism’ and with’ Rud Syndrome’

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Macromelanosomes in X-linked ocular albinism (XLOA)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steroid sulphatase deficiency disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ocular albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2573275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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