RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation (Q50485821)

14 March 2018

http://europepmc.org/abstract/MED/24038909

title

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation (English)

1 reference

14 March 2018

http://europepmc.org/abstract/MED/24038909

main subject

arteriovenous malformation

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Nicola Brunetti-Pierri

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Orli Wargon

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Miikka Vikkula

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

David J Amor

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Ana Martín-Santiago

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marc Abramowicz

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Yolanda Gilaberte

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

26

Catheline Vilain

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

25

Julie Désir

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

Juliette Mazereeuw-Hautier

13 June 2020

44

object named as

Juliette Mazereeuw-Hautier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

3

Antonella Mendola

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Christine Léauté-Labrèze

39

object named as

Christine Léauté-Labrèze

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

12

Samira Syed

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

2

Laurence M Boon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

1

Nicole Revencu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

author name string

Maria Rosa Cordisco

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Josée Dubois

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Philippe Clapuyt

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Frank Hammer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Eulalia Baselga

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Anne Dompmartin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Lesley Ades

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Felicity Collins

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Janine Smith

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sarah Sandaradura

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Victoria R Barrio

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Patricia E Burrows

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Francine Blei

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Mariarosaria Cozzolino

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Asuncion Vicente

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Wendy K Chung

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Ashley Wilson

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Carol A Gardiner

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Yim Dwight

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

David J E Lord

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Leona Fishman

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Cheryl Cytrynbaum

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sarah Chamlin

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Fred Ghali

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Shelagh Joss

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Maria Del C Boente

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marie-Ange Delrue

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Susan Bayliss

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Loreto Martorell

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Maria-Antonia González-Enseñat

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Brid O'Donnell

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Didier Bessis

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Reed E Pyeritz

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Aicha Salhi

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Oon T Tan

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

John B Mulliken

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

publication date

10 October 2013

1 reference

14 March 2018

http://europepmc.org/abstract/MED/24038909

published in

Human Mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

1632-1641

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24038909%20AND%20SRC:MED&resulttype=core&format=json

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

13 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

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.22431

7 January 2021

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

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.22431

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.22431

7 January 2021

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Cerebral cavernous malformations: somatic mutations in vascular endothelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Hereditary benign telangiectasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

A novel mutation in RASA1 causes capillary malformation and limb enlargement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

ras GTPase activating protein: signal transmitter and signal terminator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Arteriovenous malformation in a patient with Bannayan--Zonana syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Familial multiple nevi flammei

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

A novel association between RASA1 mutations and spinal arteriovenous anomalies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

Hereditary benign telangiectasia: two families with punctate telangiectasias surrounded by anemic halos.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021

RASA1 analysis: clinical and molecular findings in a series of consecutive cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22431

7 January 2021