(Q41143728)

27 September 2017

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

1 reference

Klippel–Trénaunay–Weber syndrome

27 September 2017

1 reference

16

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27 September 2017

N Revencu

1

1 reference

27 September 2017

L M Boon

2

1 reference

27 September 2017

A Dompmartin

3

1 reference

27 September 2017

P Rieu

4

1 reference

27 September 2017

W L Busch

5

1 reference

27 September 2017

J Dubois

6

1 reference

27 September 2017

F Forzano

7

1 reference

27 September 2017

J M van Hagen

8

1 reference

27 September 2017

S Halbach

9

1 reference

27 September 2017

A Kuechler

10

1 reference

27 September 2017

A M A Lachmeijer

11

1 reference

27 September 2017

J Lähde

12

1 reference

27 September 2017

L Russell

13

1 reference

27 September 2017

K O J Simola

14

1 reference

27 September 2017

J B Mulliken

15

1 reference

27 September 2017

language of work or name

1 reference

11 April 2013

1 reference

27 September 2017

Molecular syndromology

1 reference

27 September 2017

4

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27 September 2017

4

1 reference

27 September 2017

173-178

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Management of Combined Vascular Malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Klippel-Trenaunay syndrome and spinal arteriovenous malformations: an erroneous association.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

From germline towards somatic mutations in the pathophysiology of vascular anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Vascular anomalies and the growth of limbs: a review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

THE KLIPPEL-TRENAUNAY SYNDROME: VARICOSITY, HYPERTROPHY AND HEMANGIOMA WITH NO ARTERIOVENOUS FISTULA

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Klippel-Trenaunay-Weber syndrome (angio-osteohypertrophy syndrome).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Skeletal changes associated with vascular malformations.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3666457

Klippel-Trenaunay syndrome

2 December 2018

1 reference

12 December 2020

Familial Klippel-Trenaunay syndrome: a case report

1 reference

12 December 2020

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

1 reference

12 December 2020

Klippel and Trénaunay's syndrome. 768 operated cases

1 reference

12 December 2020

Genetic aspects of the Klippel-Trenaunay syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1159/000349919

1 reference

27 September 2017

1 reference

27 September 2017

PubMed publication ID

23801933

1 reference