Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations (Q57137052)

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6 January 2020

title

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations (English)

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6 January 2020

main subject

Parkes Weber syndrome

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14

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6 January 2020

Ilona J. Frieden

16

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6 January 2020

Enza Maria Valente

27

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6 January 2020

Miikka Vikkula

34

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6 January 2020

30

Keith K Vaux

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6 January 2020

24

Julie Prendiville

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6 January 2020

21

Loreto Martorell

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6 January 2020

33

David Chitayat

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6 January 2020

author name string

Nicole Revencu

1

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6 January 2020

Odile Enjolras

4

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6 January 2020

Maria Rosa Cordisco

5

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6 January 2020

Philippe Clapuyt

7

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6 January 2020

Frank Hammer

8

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6 January 2020

Josée Dubois

9

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6 January 2020

Eulalia Baselga

10

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6 January 2020

Francesco Brancati

11

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6 January 2020

Robin Carder

12

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6 January 2020

José Miguel Ceballos Quintal

13

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6 January 2020

Gayle Fischer

15

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6 January 2020

Maria Garzon

17

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6 January 2020

John Harper

18

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6 January 2020

Jennifer Johnson-Patel

19

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6 January 2020

Christine Labrèze

20

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6 January 2020

Annette Pohl

23

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6 January 2020

Isabelle Quere

25

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6 January 2020

Annet Van Hagen

28

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6 January 2020

Liselot Van Hest

29

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6 January 2020

Asuncion Vicente

31

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6 January 2020

Lisa Weibel

32

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6 January 2020

Laurence M Boon

2

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6 January 2020

John B Mulliken

3

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6 January 2020

Patricia E Burrows

6

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6 January 2020

Harriet J Paltiel

22

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6 January 2020

Dawn H Siegel

26

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6 January 2020

publication date

1 July 2008

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6 January 2020

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6 January 2020

volume

29

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6 January 2020

issue

7

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6 January 2020

page(s)

959-965

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

6 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20746

7 January 2021

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20746

7 January 2021

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20746

7 January 2021

A new case of Klippel-Trenaunay-Weber (KTW) syndrome: evidence of autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20746

7 January 2021

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20746

7 January 2021

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20746

7 January 2021

Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours

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7 January 2021

Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.

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7 January 2021

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

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7 January 2021

Vascular system defects and neuronal apoptosis in mice lacking ras GTPase-activating protein

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7 January 2021

Multiple roles for neurofibromin in skeletal development and growth

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7 January 2021

Role of p120 Ras-GAP in directed cell movement

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7 January 2021

Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

1 reference

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7 January 2021

Congenital arteriovenous fistulae of the extremities

1 reference

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7 January 2021

Intracranial haemorrhage within the first two years of life.

1 reference

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7 January 2021

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

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7 January 2021

What is the real incidence of vestibular schwannoma?

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7 January 2021

MRI diagnosis of vertebral arteriovenous malformations in neurofibromatosis

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7 January 2021

Nf1 haploinsufficiency augments angiogenesis

1 reference

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7 January 2021

Ras GTPase-activating protein binds to Akt and is required for its activation

1 reference

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7 January 2021

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20746

7 January 2021

Identifiers

DOI

10.1002/HUMU.20746

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18446851%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference