Publications:

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Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Biomedicines

Diociaiuti, Andrea A; Rotunno, Roberta R; Pisaneschi, Elisa E; Cesario, Claudia C; Carnevale, Claudia C; Condorelli, Angelo Giuseppe AG; Rollo, Massimo M; Di Cecca, Stefano S; Quintarelli, Concetta C; Novelli, Antonio A; Zambruno, Giovanna G; El Hachem, May M

Publication Date: 2022-06-20

Variant appearance in text: TEK: Arg915Leu

PubMed Link: 35740480

Variant Present in the following documents:

• Main text
• biomedicines-10-01460.pdf

View BVdb publication page

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: Arg915Leu

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: Arg915Leu

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

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The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

International Journal Of Molecular Sciences

Nguyen, Vi V; Hochman, Marcelo M; Mihm, Martin C MC; Nelson, J Stuart JS; Tan, Wenbin W

Publication Date: 2019-05-07

Variant appearance in text: TEK: R915L

PubMed Link: 31067686

Variant Present in the following documents:

• Main text
• ijms-20-02243.pdf

View BVdb publication page

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Common and specific effects of TIE2 mutations causing venous malformations.

Human Molecular Genetics

Nätynki, Marjut M; Kangas, Jaakko J; Miinalainen, Ilkka I; Sormunen, Raija R; Pietilä, Riikka R; Soblet, Julie J; Boon, Laurence M LM; Vikkula, Miikka M; Limaye, Nisha N; Eklund, Lauri L

Publication Date: 2015-11-15

Variant appearance in text: TIE2: R915L

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Nature Genetics

Limaye, Nisha N; Wouters, Vinciane V; Uebelhoer, Melanie M; Tuominen, Marjut M; Wirkkala, Riikka R; Mulliken, John B JB; Eklund, Lauri L; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2009-01

Variant appearance in text: TIE2: R915L

PubMed Link: 19079259

Variant Present in the following documents:

• Main text
• NIHMS103256-supplement-1.pdf
• nihms-103256.pdf

View BVdb publication page

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