(Q47659982)

4 February 2018

title

Arterial tortuosity syndrome: 40 new families and literature review. (English)

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4 February 2018

arterial tortuosity syndrome

main subject

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32

Xavier Jeunemaitre

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4 February 2018

63

Yuri Zarate

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4 February 2018

Lut Van Laer

56

Lut Van Laer

1 reference

4 February 2018

Bert Callewaert

64

Bert Callewaert

1 reference

4 February 2018

Elise Schaefer

51

Elise Schaefer

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4 February 2018

Jamal Ghoumid

27

Jamal Ghoumid

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4 February 2018

author name string

Aude Beyens

1

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4 February 2018

Juliette Albuisson

2

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4 February 2018

Annekatrien Boel

3

1 reference

4 February 2018

Mazen Al-Essa

4

1 reference

4 February 2018

Waheed Al-Manea

5

1 reference

4 February 2018

Damien Bonnet

6

1 reference

4 February 2018

Ozlem Bostan

7

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4 February 2018

Odile Boute

8

1 reference

4 February 2018

Tiffany Busa

9

1 reference

4 February 2018

Nathalie Canham

10

1 reference

4 February 2018

Ergun Cil

11

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4 February 2018

Paul J Coucke

12

1 reference

4 February 2018

Margot A Cousin

13

1 reference

4 February 2018

Majed Dasouki

14

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4 February 2018

Julie De Backer

15

1 reference

4 February 2018

Anne De Paepe

16

1 reference

4 February 2018

Sofie De Schepper

17

1 reference

4 February 2018

Deepthi De Silva

18

1 reference

4 February 2018

Koenraad Devriendt

19

1 reference

4 February 2018

Inge De Wandele

20

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4 February 2018

David R Deyle

21

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4 February 2018

Harry Dietz

22

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4 February 2018

Sophie Dupuis-Girod

23

1 reference

4 February 2018

Eudice Fontenot

24

1 reference

4 February 2018

Björn Fischer-Zirnsak

25

1 reference

4 February 2018

Alper Gezdirici

26

1 reference

4 February 2018

Fabienne Giuliano

28

1 reference

4 February 2018

Neus Baena Diéz

29

1 reference

4 February 2018

Mohammed Z Haider

30

1 reference

4 February 2018

Joshua S Hardin

31

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4 February 2018

Eric W Klee

33

1 reference

4 February 2018

Uwe Kornak

34

1 reference

4 February 2018

Manuel F Landecho

35

1 reference

4 February 2018

Anne Legrand

36

1 reference

4 February 2018

Bart Loeys

37

1 reference

4 February 2018

Stanislas Lyonnet

38

1 reference

4 February 2018

Helen Michael

39

1 reference

4 February 2018

Pamela Moceri

40

1 reference

4 February 2018

Shehla Mohammed

41

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4 February 2018

Laura Muiño-Mosquera

42

1 reference

4 February 2018

Sheela Nampoothiri

43

1 reference

4 February 2018

Karin Pichler

44

1 reference

4 February 2018

Katrina Prescott

45

1 reference

4 February 2018

Anna Rajeb

46

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4 February 2018

Maria Ramos-Arroyo

47

1 reference

4 February 2018

Massimiliano Rossi

48

1 reference

4 February 2018

Mustafa Salih

49

1 reference

4 February 2018

Mohammed Z Seidahmed

50

1 reference

4 February 2018

Elisabeth Steichen-Gersdorf

52

1 reference

4 February 2018

Sehime Temel

53

1 reference

4 February 2018

Fahrettin Uysal

54

1 reference

4 February 2018

Marine Vanhomwegen

55

1 reference

4 February 2018

Lionel Van Maldergem

57

1 reference

4 February 2018

David Warner

58

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4 February 2018

Andy Willaert

59

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4 February 2018

Tom R Collins

60

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4 February 2018

Andrea Taylor

61

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4 February 2018

Elaine C Davis

62

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4 February 2018

language of work or name

English

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publication date

11 January 2018

1 reference

4 February 2018

published in

Genetics in Medicine

1 reference

4 February 2018

https://scigraph.springernature.com/pub.10.1038/gim.2017.253

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Three new families with arterial tortuosity syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Diffuse Tortuosity and Lengthening of the Arteries

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Aneurysm syndromes caused by mutations in the TGF-beta receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Glucose depletion in the airway surface liquid is essential for sterility of the airways

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

Atenolol versus losartan in children and young adults with Marfan's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

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

https://api.crossref.org/works/10.1038%2FGIM.2017.253

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

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/10.1038%2FGIM.2017.253

7 January 2021

Exclusion of candidate genes in a family with arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

7 January 2021

[Arterial tortuosity syndrome]

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

7 January 2021

Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

7 January 2021

Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2017.253

7 January 2021

Identifiers

DOI

10.1038/GIM.2017.253

1 reference

4 February 2018

PubMed ID

29323665

1 reference

4 February 2018