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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Syndrome and STXBP2[original query]
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
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
Benefit of Anakinra in Treating Pediatric Secondary Hemophagocytic Lymphohistiocytosis.
Arthritis & rheumatology (Hoboken, N.J.) 2019 9 72 (2): 326-334.
Eloseily Esraa M, Weiser Peter, Crayne Courtney B, Haines Hilary, Mannion Melissa L, Stoll Matthew L, Beukelman Timothy, Atkinson T Prescott, Cron Randy
The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.
Frontiers in immunology 2021 3 12 612583.
Shabrish Snehal, Kelkar Madhura, Yadav Reetika Malik, Bargir Umair Ahmed, Gupta Maya, Dalvi Aparna, Aluri Jahnavi, Kulkarni Manasi, Shinde Shweta, Sawant-Desai Sneha, Kambli Priyanka, Hule Gouri, Setia Priyanka, Jodhawat Neha, Gaikwad Pallavi, Dhawale Amruta, Nambiar Nayana, Gowri Vijaya, Pandrowala Ambreen, Taur Prasad, Raj Revathi, Uppuluri Ramya, Sharma Ratna, Kini Pranoti, Sivasankaran Meena, Munirathnam Deenadayalan, Vedam Ramprasad, Vignesh Pandiarajan, Banday Aaqib, Rawat Amit, Aggarwal Amita, Poddar Ujjal, Girish Meenakshi, Chaudhary Abhijit, Sampagar Abhilasha, Jayaraman Dharani, Chaudhary Narendra, Shah Nitin, Jijina Farah, Chandrakla S, Kanakia Swati, Arora Brijesh, Sen Santanu, Lokeshwar Madhukar, Desai Mukesh, Madkaikar Manis
Role of Genetic Polymorphism Present in Macrophage Activation Syndrome Pathway in Post Mortem Biopsies of Patients with COVID-19.
Viruses 2022 07 14 (8): .
Zanchettin Aline Cristina, Barbosa Leonardo Vinicius, Dutra Anderson Azevedo, Prá Daniele Margarita Marani, Pereira Marcos Roberto Curcio, Stocco Rebecca Benicio, Martins Ana Paula Camargo, Vaz de Paula Caroline Busatta, Nagashima Seigo, de Noronha Lucia, Machado-Souza Cleb
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.
Frontiers in pediatrics 2022 11 10 975665.
Park Jong Eun, Lee Taeheon, Ha Kyeongsu, Cho Eun Hye, Ki Chang-Se
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Arthritis & rheumatology (Hoboken, N.J.) 2024 6 .
Mariana Correia Marques, Danielle Rubin, Emily G Shuldiner, Mallika Datta, Elizabeth Schmitz, Gustavo Gutierrez Cruz, Andrew Patt, Elizabeth Bennett, Alexei Grom, Dirk Foell, Marco Gattorno, John Bohnsack, Rae S M Yeung, Sampath Prahalad, Elizabeth Mellins, Jordi Anton, Claudio A Len, Sheila Oliveira, Patricia Woo, Seza Ozen, , Zuoming Deng, Michael J Ombrel
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