(Q34180405)

31 July 2017

title

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

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31 July 2017

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Ballabio A

1

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31 July 2017

Sebastio G

2

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31 July 2017

Carrozzo R

3

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31 July 2017

Parenti G

4

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31 July 2017

Piccirillo A

5

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31 July 2017

Persico MG

6

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31 July 2017

Andria G

7

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31 July 2017

publication date

1 December 1987

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31 July 2017

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31 July 2017

volume

77

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31 July 2017

issue

4

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31 July 2017

page(s)

338-341

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Recessive X-linked ichthyosis: lack of immunologically detectable steroid sulfatase enzyme protein

31 July 2017

cites work

1 reference

12 December 2020

Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linkage of steroid sulphatase in the mouse is evidence for a functional Y-linked allele

1 reference

12 December 2020

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

12 December 2020

Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency

1 reference

12 December 2020

X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia

1 reference

12 December 2020

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

1 reference

12 December 2020

Steroid sulphatase deficiency disease

1 reference

12 December 2020

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

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12 December 2020

Human placental steroid sulphatase--purification and monospecific antibody production in rabbits

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12 December 2020

Non-inactivation of an X-Chromosome Locus in Man

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12 December 2020

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

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12 December 2020

Steroid sulfatase. Biosynthesis and processing in normal and mutant fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Enzymatic basis of typical X-linked icthyosis

1 reference

12 December 2020

Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism

1 reference

12 December 2020

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

1 reference

12 December 2020

Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor

1 reference

12 December 2020

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

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12 December 2020

Rapid degradation of steroid sulfatase in multiple sulfatase deficiency

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12 December 2020

Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region

1 reference

12 December 2020

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

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12 December 2020

Contiguous gene syndromes: a component of recognizable syndromes

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12 December 2020

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

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12 December 2020

Steroid sulphatase deficiency and hypogonadism

1 reference

12 December 2020

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

1 reference

12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00291422

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Dimensions Publication ID

31 July 2017

1006852683

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Fatcat ID

release_lbskej6iczc5lldjwuz7f6lspy

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lbskej6iczc5lldjwuz7f6lspy

24 November 2022

mapped directly with Wikidata item

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