X-linked ichthyosis: an update (Q33785584)

29 July 2017

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title

X-linked ichthyosis: an update (English)

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29 July 2017

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Hernández-Martín A

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29 July 2017

González-Sarmiento R

series ordinal

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29 July 2017

De Unamuno P

series ordinal

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29 July 2017

language of work or name

English

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publication date

1 October 1999

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British Journal of Dermatology

29 July 2017

published in

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29 July 2017

volume

141

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29 July 2017

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29 July 2017

page(s)

617-627

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X-linked icthyosis. A sulphatase deficiency

29 July 2017

cites work

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

X-linked ichthyosis and ichthyosis vulgaris: comparison of their clinical features based on biochemical analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Ocular manifestations of ichthyosis

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Sterols and keratinization

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Regional assignment of the steroid sulfatase—X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Non-inactivation of an X-Chromosome Locus in Man

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Differential expression of steroid sulphatase locus on active and inactive human X chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Molecular studies of deletions at the human steroid sulfatase locus

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

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

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

DNA sequencing with chain-terminating inhibitors

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

A Novel Point Mutation in the Steroid Sulfatase Gene in X-linked Ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Physical mapping of deletion breakpoints in patients with X-linked ichthyosis: evidence for clustering of distal and proximal breakpoints.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Chromosomal localisation of a pseudoautosomal growth gene(s)

21 January 2018

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https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Simplified method of determination of serum cholesterol sulfate by reverse phase thin-layer chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Prenatal in situ hybridization test for deleted steroid sulfatase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Differential diagnosis and management of very low second trimester maternal serum unconjugated estriol levels, with special emphasis on the diagnosis of X-linked ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.03098.X

10.1046/J.1365-2133.1999.03098.X

21 January 2018

Identifiers

DOI

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29 July 2017

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