(Q36719190)

English

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis

scientific article published on June 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

0 references

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

congenital disorder

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Larsen syndrome

1 reference

based on heuristic

inferred from title

Andrea Superti-Furga

16

object named as

Andrea Superti-Furga

0 references

2

object named as

Sheila Unger

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

6

object named as

Luisa Bonafé

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

13

object named as

Gen Nishimura

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Europe PubMed Central

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15 August 2017

author name string

Pia Hermanns

1

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15 August 2017

Antonio Rossi

3

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Europe PubMed Central

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15 August 2017

Antonio Perez-Aytes

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Hector Cortina

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Loredana Boccone

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Valeria Setzu

8

1 reference

Europe PubMed Central

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15 August 2017

Michel Dutoit

9

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Europe PubMed Central

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15 August 2017

Luca Sangiorgi

10

1 reference

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15 August 2017

Fabio Pecora

11

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15 August 2017

Kerstin Reicherter

12

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Europe PubMed Central

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15 August 2017

Jürgen Spranger

14

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15 August 2017

Bernhard Zabel

15

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15 August 2017

language of work or name

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publication date

1 June 2008

1 reference

Europe PubMed Central

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15 August 2017

American Journal of Human Genetics

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15 August 2017

82

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15 August 2017

6

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15 August 2017

1368-1374

1 reference

Europe PubMed Central

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15 August 2017

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Structural insights into biological roles of protein-glycosaminoglycan interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Multiple congenital dislocations associated with characteristic facial abnormality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Functional analysis of the chondroitin 6-sulfotransferase gene in relation to lymphocyte subpopulations, brain development, and oversulfated chondroitin sulfates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Larsen's syndrome: review of the literature and analysis of thirty-eight cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Cartilage disorders. The importance of being sulphated

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

beta-D-xylosides and their analogues as artificial initiators of glycosaminoglycan chain synthesis. Aglycone-related variation in their effectiveness in vitro and in ovo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Humero-spinal dysostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

30 September 2017

Humero-Spinal Dysostosis With Congenital Heart Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

28 June 2018

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

5 September 2018

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

5 September 2018

Congenital distal humeral dysplasia: a case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427316

5 September 2018

Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/18513679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18513679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Case report: humero-spinal dysostosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18513679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vertebral anomalies in Larsen's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18513679

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2008.05.006

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

0 references

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