Results 91 to 100 of about 4,354 (166)

Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. [PDF]

J Med Genet
Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ, Malicdan MCV.   +16 more
europepmc   +1 more source

Novel MRI Finding of Bilateral Globus Pallidal Involvement in Accelerated Phase of Chédiak -Higashi Syndrome.

Ann Indian Acad Neurol, 2020
Kekatpure MV, Bhat V.
europepmc   +1 more source

Chédiak-Higashi syndrome with novel gene mutation. [PDF]

BMJ Case Rep, 2017
Helmi MM, Saleh M, Yacop B, ElSawy D.
europepmc   +1 more source

Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response. [PDF]

JDR Clin Trans Res, 2018
Thumbigere Math V, Rebouças P, Giovani PA, Puppin-Rontani RM, Casarin R, Martins L, Wang L, Krzewski K, Introne WJ, Somerman MJ, Nociti FH, Kantovitz KR.   +11 more
europepmc   +1 more source

The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy [PDF]

, 2017
Bjørkøy, Blobel, Changyong Tang, Chonglin Yang, Clausen, Cullinane, Filimonenko, Filimonenko, Gamerdinger, Goldberg, Gulsuner, Guo, Guo, Haigh, Johansen, Kai Liu, Kawaguchi, Khaminets, Kirkin, Kirkin, Komatsu, Kopito, Kuma, Lazarou, Lim, Lin, Liu, Liu, Lystad, Matsumoto, Menzies, Moscat, Newton, Noda, Pankiv, Qiwen Gan, Rapiteanu, Rogov, Rubinsztein, Rui, Ruxiao Xing, Salomons, Seibenhener, Shouqing Luo, Szeto, Tan, Traka, Tyedmers, von Muhlinen, Weixiang Guo, Wild, Wong, Wu, Xin Wang, Xuezhao Liu, Yang Li, Youli Jian, Zhiyang Gao   +57 more
core   +2 more sources

Towards the targeted management of Chediak-Higashi syndrome. [PDF]

Orphanet J Rare Dis, 2014
Lozano ML, Rivera J, Sánchez-Guiu I, Vicente V.   +3 more
europepmc   +1 more source

Chediak-Higashi syndrome.

Indian pediatrics, 1995
H N, Usha, P D, Prabhu, M, Sridevi, K, Baindur, C M, Balakrishnan   +4 more
openaire   +3 more sources

Chédiak-higashi syndrome: a case report. [PDF]

Indian J Hematol Blood Transfus, 2013
Patne SC, Kumar S, Bagri NK, Kumar A, Shukla J.   +4 more
europepmc   +1 more source

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome. [PDF]

J Allergy Clin Immunol, 2018
Gil-Krzewska A, Saeed MB, Oszmiana A, Fischer ER, Lagrue K, Gahl WA, Introne WJ, Coligan JE, Davis DM, Krzewski K.   +9 more
europepmc   +1 more source

Lysosomal vesicles, giant granules, and erythrophagocytosis in chédiak-higashi syndrome. [PDF]

Turk J Haematol, 2014
Beken B, Unal S, Gümrük F.
europepmc   +1 more source