A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy (Q24314592)

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24 October 2019

title

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy (English)

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24 October 2019

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GOA release 2020-03-11

skeletal system development

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chondrodysplasia punctata

GOA release 2020-03-11

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24 October 2019

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24 October 2019

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24 October 2019

G Meroni

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24 October 2019

G Parenti

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24 October 2019

J Levilliers

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24 October 2019

L Bernard

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M Gebbia

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24 October 2019

L Cox

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24 October 2019

P Maroteaux

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24 October 2019

L Sheffield

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24 October 2019

G A Rappold

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24 October 2019

G Andria

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24 October 2019

language of work or name

English

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publication date

1 April 1995

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24 October 2019

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24 October 2019

volume

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issue

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24 October 2019

page(s)

15-25

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The warfarin embryopathy: a rat model showing maxillonasal hypoplasia and other skeletal disturbances

24 October 2019

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7 January 2021

Heterogeneity of Chondrodysplasia punctata

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7 January 2021

Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

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7 January 2021

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

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Maternal and fetal sequelae of anticoagulation during pregnancy

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Action of surface-active agents on arylsulfatase-C of human cultured fibroblasts

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Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

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7 January 2021

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

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7 January 2021

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

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The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

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

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Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.

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7 January 2021

High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

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Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

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Chondrodysplasia punctata-23 cases of a mild and relatively common variety

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Characterization of a murine gene expressed from the inactive X chromosome

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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

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7 January 2021

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

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A high resolution deletion map of human chromosome Xp22.

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Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

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Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

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

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Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

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7 January 2021

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

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7 January 2021

MIC2R: a transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region

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Multiple sulphatase deficiency presenting at birth

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cDNA cloning, nucleotide sequence and expression of the gene for arylsulfatase in the sea urchin (Hemicentrotus pulcherrimus) embryo.

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A sulfur- and tyramine-regulated Klebsiella aerogenes operon containing the arylsulfatase (atsA) gene and the atsB gene

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SR alpha promoter: an efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat

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7 January 2021

Mechanism of bone and cartilage maldevelopment in the warfarin embryopathy

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7 January 2021

10.1016/0092-8674(95)90367-4

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Consolidated OpenCitations Corpus – April 2017

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