Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mellenee Finger"'
Autor:
Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis, Craig Johnson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (
Externí odkaz:
https://doaj.org/article/340ef9c9e2884402a61ae9466d67dc8e
Autor:
Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis, Craig Johnson
Publikováno v:
Orphanet journal of rare diseases. 17(1)
Background PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f00b1323bf3d546d8b2c1782f19d262
https://pubmed.ncbi.nlm.nih.gov/35526022
https://pubmed.ncbi.nlm.nih.gov/35526022
Publikováno v:
Journal of Vascular Anomalies. 3:e036
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccd15b45c2e1e24b7be5dc5ec7967fd3
https://doi.org/10.1097/jova.0000000000000036
https://doi.org/10.1097/jova.0000000000000036
Autor:
Shelley E. Crary, Denise M. Adams, Julie Blatt, Victoria E. Price, Arti Pandya, Mellenee Finger
Publikováno v:
Lymphatic research and biology. 17(6)
Background: Klippel–Trenaunay syndrome (KTS) is an overgrowth syndrome defined by capillary/venous/lymphatic malformations (CVLM) with soft tissue and/or bone hypertrophy. Whether KTS pred...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b349f640501eede20546f6c7c51dbf2
https://pubmed.ncbi.nlm.nih.gov/31045469
https://pubmed.ncbi.nlm.nih.gov/31045469
Publikováno v:
Blood. 134:5785-5785
Vascular malformations represent a spectrum of disorders with dysregulated vascular and/or skeletal, adipose, and soft tissue overgrowth. The morbidity of the diseases is related to vascular abnormalities, which can result in venous insufficiency, co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51fa693837bf8486121563136d0e49ed
https://doi.org/10.1182/blood-2019-127084
https://doi.org/10.1182/blood-2019-127084