Results 81 to 90 of about 4,354 (166)

Contribution of Cytology to the Diagnosis of Chediak-Higashi Syndrome. [PDF]

Cureus
Naamane MA, Harrach A, Boussif S, Bencharef H, Oukkache B.   +4 more
europepmc   +1 more source

[Chediak Higashi syndrome with cytotoxic T-cell lymphoma: a case report]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2020
Huang S, Sun HQ, Li HX, Wang LJ.
europepmc   +1 more source

Chedíak-Higashi Syndrome: Hair-to-toe spectrum. [PDF]

Semin Pediatr Neurol
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ.   +7 more
europepmc   +1 more source

Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST. [PDF]

Sci Rep, 2020
Buckley RM, Grahn RA, Gandolfi B, Herrick JR, Kittleson MD, Bateman HL, Newsom J, Swanson WF, Prieur DJ, Lyons LA.   +9 more
europepmc   +1 more source

Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome. [PDF]

BMC Med Genomics
Amri Y, Chouchene S, Foddha H, Abderahmene A, Kooli I, Toumi A, Hadj Khalifa K, Mezrigui R, Messaoud T, Hassine M, Dabboubi R.   +10 more
europepmc   +1 more source

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype. [PDF]

Commun Biol
Greene S, Talbert ML, Frost FG, Zerfas PM, Springer D, Noguchi A, Morimoto M, Maynard D, Garrett L, Elliot G, Traver M, Yarnell D, Leoyklang P, Burke JD, Nicoli ER, Gahl WA, Introne WJ, Malicdan MCV.   +17 more
europepmc   +1 more source

Role of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report. [PDF]

Cureus
Rajyalakshmi R, Kusa Raju P.
europepmc   +1 more source

Novel <i>LYST</i> Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome. [PDF]

Genes (Basel)
Aleksenko M, Vlasova E, Kieva A, Abasov R, Rodina Y, Maschan M, Shcherbina A, Raykina E.   +7 more
europepmc   +1 more source

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator? [PDF]

Cell Mol Biol Lett
Savy C, Bourgoin M, Cluzeau T, Jacquel A, Robert G, Auberger P.   +5 more
europepmc   +1 more source

Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction. [PDF]

Sci Rep, 2019
Hedberg-Buenz A, Dutca LM, Larson DR, Meyer KJ, Soukup DA, van der Heide CJ, Mercer HE, Wang K, Anderson MG.   +8 more
europepmc   +1 more source