(Q34176600)

English

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance (English)

1 reference

Europe PubMed Central

31 July 2017

diastrophic dysplasia

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author name string

A Rossi

1

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Europe PubMed Central

31 July 2017

A Superti-Furga

2

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Europe PubMed Central

31 July 2017

publication date

1 March 2001

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Europe PubMed Central

31 July 2017

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Europe PubMed Central

31 July 2017

17

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Europe PubMed Central

31 July 2017

3

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31 July 2017

159-171

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Europe PubMed Central

31 July 2017

The STAS domain - a link between anion transporters and antisigma-factor antagonists

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Diastrophic dysplasia: a specific prenatal diagnosis by ultrasound

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Prenatal diagnosis of osteochondrodysplasias in high risk pregnancy

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https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

based on heuristic

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Diastrophic dysplasia gene maps to the distal long arm of chromosome 5

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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The phenotypic variability of diastrophic dysplasia

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https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Early prenatal detection of diastrophic dysplasia

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https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene

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https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Cloning of mouse diastrophic dysplasia sulfate transporter gene induced during osteoblast differentiation by bone morphogenetic protein-2.

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https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Hyaline cartilage changes in diastrophic dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

based on heuristic

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The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Atelosteogenesis: evidence for heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Achondrogenesis type 1B

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https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Antenatal diagnosis of lethal skeletal dysplasias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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DIASTROPHIC DWARFISM

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https://api.crossref.org/works/10.1002%2FHUMU.1

7 January 2021

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Identifiers

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Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

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