HuGE Literature Finder
Records
1
-
4
Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2. Clinical genetics 2015 Oct . Seo Ja Young, Lee Ki-O, Yoo Keon-Hee, Sung Ki-Woong, Koo Hong Hoe, Kim Sun-Hee, Kang Hyoung Jin, Park Kyung-Duk, Shin Hee Young, Baek Hee-Jo, Kook Hoon, Lyu Chuhl Joo, Song Joon-Sup, Lee Mee Jeong, Kim Ji-Yoon, Lim Young-Tak, Koh Kyung-Nam, Im Ho Joon, Seo Jong Jin, Kim Hee-J |
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. The Journal of allergy and clinical immunology 2015 May 135 (5): 1310-8.e1. Cetica Valentina, Hackmann Yvonne, Grieve Samantha, Sieni Elena, Ciambotti Benedetta, Coniglio Maria Luisa, Pende Daniela, Gilmour Kimberly, Romagnoli Paolo, Griffiths Gillian M, Aricò Mauriz |
Monoallelic mutations of the perforin gene may represent a predisposing factor to childhood anaplastic large cell lymphoma. Journal of pediatric hematology/oncology 2014 Aug 36 (6): e359-65. Ciambotti Benedetta, Mussolin Lara, d'Amore Emanuele S G, Pillon Marta, Sieni Elena, Coniglio Maria L, Ros Martina D, Cetica Valentina, Aricò Maurizio, Rosolen Ange |
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. PloS one 2013 8 (7): e68045. Aricò Maurizio, Boggio Elena, Cetica Valentina, Melensi Matteo, Orilieri Elisabetta, Clemente Nausicaa, Cappellano Giuseppe, Buttini Sara, Soluri Maria Felicia, Comi Cristoforo, Dufour Carlo, Pende Daniela, Dianzani Irma, Ellis Steven R, Pagliano Sara, Marcenaro Stefania, Ramenghi Ugo, Chiocchetti Annalisa, Dianzani Umber |
- Page last reviewed:Oct 1, 2021
- Page last updated:Jun 28, 2022
- Content source: