Publications:

---

The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.

International Journal Of Molecular Sciences

Butnariu, Lăcrămioara Ionela LI; Gorduza, Eusebiu Vlad EV; Florea, Laura L; Țarcă, Elena E; Moisă, Ștefana Maria ȘM; Trandafir, Laura Mihaela LM; Stoleriu, Simona S; Bădescu, Minerva Codruța MC; Luca, Alina-Costina AC; Popa, Setalia S; Radu, Iulian I; Cojocaru, Elena E

Publication Date: 2022-10-13

Variant appearance in text: TEK: T1105N

PubMed Link: 36293054

Variant Present in the following documents:

• Main text
• ijms-23-12199.pdf

View BVdb publication page

---

Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.

Sage Open Medical Case Reports

Ma, Jian-Xun JX; Xia, You-Chen YC; Zou, Li-Ping LP; Lin, Heng-Ju HJ; Chang, Xu X; Liu, Li-Ying LY; Toledo, Joy Roechelle A JRA

Publication Date: 2022

Variant appearance in text: TEK: Thr1105Asn

PubMed Link: 35573101

Variant Present in the following documents:

• Main text
• 10.1177_2050313X221097755.pdf

View BVdb publication page

---

Blue rubber bleb nevus syndrome: a single-center case series in 12 years.

Translational Pediatrics

Xia, Haijiao H; Wu, Jie J; Huang, Ying Y

Publication Date: 2021-11

Variant appearance in text: TIE2: T1105N

PubMed Link: 34976762

Variant Present in the following documents:

• Main text
• tp-10-11-2960.pdf

View BVdb publication page

---

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.

Dermatopathology (Basel, Switzerland)

Colmenero, Isabel I; Knöpfel, Nicole N

Publication Date: 2021-10-15

Variant appearance in text: VMCM: T1105N

PubMed Link: 34698142

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 3314C>A; Thr1105Asn

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

---

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: 3314C>A; Thr1105Asn

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

---

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: T1105N

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 3314C>A

PubMed Link: 23801934

Variant Present in the following documents:

• Main text

View BVdb publication page

---