Publications:

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Journal Of Clinical Medicine

Paolacci, Stefano S; Mattassi, Raul Ettore RE; Marceddu, Giuseppe G; Manara, Elena E; Zulian, Alessandra A; Guerri, Giulia G; De Antoni, Luca L; Arduino, Carlo C; Cavalca, Daniela D; Bertelli, Matteo M

Publication Date: 2020-10-22

Variant appearance in text: TEK: 3343G>T; G1115*

PubMed Link: 33105631

Variant Present in the following documents:

• Main text
• jcm-09-03387.pdf

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Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

Science Translational Medicine

Castillo, Sandra D SD; Tzouanacou, Elena E; Zaw-Thin, May M; Berenjeno, Inma M IM; Parker, Victoria E R VE; Chivite, Iñigo I; Milà-Guasch, Maria M; Pearce, Wayne W; Solomon, Isabelle I; Angulo-Urarte, Ana A; Figueiredo, Ana M AM; Dewhurst, Robert E RE; Knox, Rachel G RG; Clark, Graeme R GR; Scudamore, Cheryl L CL; Badar, Adam A; Kalber, Tammy L TL; Foster, Julie J; Stuckey, Daniel J DJ; David, Anna L AL; Phillips, Wayne A WA; Lythgoe, Mark F MF; Wilson, Valerie V; Semple, Robert K RK; Sebire, Neil J NJ; Kinsler, Veronica A VA; Graupera, Mariona M; Vanhaesebroeck, Bart B

Publication Date: 2016-03-30

Variant appearance in text: TEK: G1115X

PubMed Link: 27030595

Variant Present in the following documents:

• Main text

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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: G1115X

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Molecular Syndromology

Soblet, J J; Limaye, N N; Uebelhoer, M M; Boon, L M LM; Vikkula, M M

Publication Date: 2013-04

Variant appearance in text: TIE2: 3343G>T

PubMed Link: 23801934

Variant Present in the following documents:

• Main text

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