(Q45345290)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17935213%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17935213%20AND%20SRC:MED&resulttype=core&format=json

arterial tortuosity syndrome

8 January 2020

main subject

1 reference

20

1 reference

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8 January 2020

Bert Callewaert

1

1 reference

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8 January 2020

author name string

Willaert A

2

1 reference

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8 January 2020

Kerstjens-Frederikse WS

3

1 reference

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8 January 2020

De Backer J

4

1 reference

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8 January 2020

Devriendt K

5

1 reference

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8 January 2020

Albrecht B

6

1 reference

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8 January 2020

Ramos-Arroyo MA

7

1 reference

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8 January 2020

Doco-Fenzy M

8

1 reference

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8 January 2020

Hennekam RC

9

1 reference

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8 January 2020

Pyeritz RE

10

1 reference

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8 January 2020

Krogmann ON

11

1 reference

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8 January 2020

Gillessen-kaesbach G

12

1 reference

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8 January 2020

Wakeling EL

13

1 reference

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8 January 2020

Nik-zainal S

14

1 reference

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8 January 2020

Francannet C

15

1 reference

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8 January 2020

Mauran P

16

1 reference

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8 January 2020

Booth C

17

1 reference

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8 January 2020

Barrow M

18

1 reference

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8 January 2020

Dekens R

19

1 reference

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8 January 2020

Coucke PJ

21

1 reference

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8 January 2020

De Paepe AM

22

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8 January 2020

language of work or name

1 reference

1 January 2008

1 reference

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8 January 2020

1 reference

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8 January 2020

volume

29

1 reference

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8 January 2020

page(s)

150-158

1 reference

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8 January 2020

issue

1

1 reference

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Diffuse Tortuosity and Lengthening of the Arteries

8 January 2020

cites work

1 reference

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Rapid detection of VHL exon deletions using real-time quantitative PCR.

21 January 2018

1 reference

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A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar

21 January 2018

1 reference

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7 January 2021

Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?

1 reference

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7 January 2021

Genetic variation of the GLUT10 glucose transporter (SLC2A10) and relationships to type 2 diabetes and intermediary traits

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7 January 2021

Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes

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7 January 2021

Dysplasia of the systemic and pulmonary arterial system with tortuosity and lengthening of the arteries. A new entity, diagnosed during life, and leading to coronary death in early childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20623

7 January 2021

Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20623

7 January 2021

Ischemic stroke in an adolescent with arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20623

7 January 2021

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20623

7 January 2021

Sequence and functional analysis of GLUT10: a glucose transporter in the Type 2 diabetes-linked region of chromosome 20q12-13.1

1 reference

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7 January 2021

Oral health in prevalent types of Ehlers-Danlos syndromes.

1 reference

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7 January 2021

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome

1 reference

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7 January 2021

Exclusion of candidate genes in a family with arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20623

7 January 2021

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs

1 reference

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7 January 2021

Kinky vessels and double joints: useful clues for childhood stroke?

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7 January 2021

Inhibition of versican synthesis by antisense alters smooth muscle cell phenotype and induces elastic fiber formation in vitro and in neointima after vessel injury

1 reference

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7 January 2021

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome

1 reference

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7 January 2021

Further evidence for a susceptibility locus for type 2 diabetes on chromosome 20q13.1-q13.2.

1 reference

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7 January 2021

Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries

1 reference

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7 January 2021

Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population.

1 reference

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7 January 2021

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

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7 January 2021

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

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7 January 2021

Aneurysm syndromes caused by mutations in the TGF-beta receptor

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7 January 2021

Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility

1 reference

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7 January 2021

[Arterial tortuosity syndrome]

1 reference

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7 January 2021

Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns

1 reference

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7 January 2021

Four sibs with arterial tortuosity: description and review of the literature

1 reference

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7 January 2021

Arterial tortuosity and dilatation in Larsen syndrome

1 reference

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7 January 2021

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis

1 reference

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7 January 2021

Studies of relationships between the GLUT10 Ala206Thr polymorphism and impaired insulin secretion

1 reference

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7 January 2021

Three new families with arterial tortuosity syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20623

7 January 2021

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

1 reference

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7 January 2021