276 related articles for article (PubMed ID: 21488161)
1. A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.
Kaya Z; Ehl S; Albayrak M; Maul-Pavicic A; Schwarz K; Kocak U; Ergun MA; Gursel T
Pediatr Blood Cancer; 2011 Jul; 56(7):1136-9. PubMed ID: 21488161
[TBL] [Abstract][Full Text] [Related]
2. Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan.
Nagai K; Ochi F; Terui K; Maeda M; Ohga S; Kanegane H; Kitoh T; Kogawa K; Suzuki N; Ohta S; Ishida Y; Okamura T; Wakiguchi H; Yasukawa M; Ishii E
Pediatr Blood Cancer; 2013 Oct; 60(10):1582-6. PubMed ID: 23804531
[TBL] [Abstract][Full Text] [Related]
3. Infantile hemophagocytic lymphohistiocytosis in a case of chediak-higashi syndrome caused by a mutation in the LYST/CHS1 gene presenting with delayed umbilical cord detachment and diarrhea.
Nielsen C; Agergaard CN; Jakobsen MA; Møller MB; Fisker N; Barington T
J Pediatr Hematol Oncol; 2015 Mar; 37(2):e73-9. PubMed ID: 25551669
[TBL] [Abstract][Full Text] [Related]
4. Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Zarzour W; Kleta R; Frangoul H; Suwannarat P; Jeong A; Kim SY; Wayne AS; Gunay-Aygun M; White J; Filipovich AH; Gahl WA
Mol Genet Metab; 2005 Jun; 85(2):125-32. PubMed ID: 15896657
[TBL] [Abstract][Full Text] [Related]
5. Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.
Sánchez-Guiu I; Antón AI; García-Barberá N; Navarro-Fernández J; Martínez C; Fuster JL; Couselo JM; Ortuño FJ; Vicente V; Rivera J; Lozano ML
Eur J Haematol; 2014 Jan; 92(1):49-58. PubMed ID: 24112114
[TBL] [Abstract][Full Text] [Related]
6. Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the
Boluda-Navarro M; Ibáñez M; Liquori A; Franco-Jarava C; Martínez-Gallo M; Rodríguez-Vega H; Teresa J; Carreras C; Such E; Zúñiga Á; Colobran R; Cervera JV
Front Immunol; 2021; 12():625591. PubMed ID: 33868243
[TBL] [Abstract][Full Text] [Related]
7. Chediak-Higashi syndrome.
Kaplan J; De Domenico I; Ward DM
Curr Opin Hematol; 2008 Jan; 15(1):22-9. PubMed ID: 18043242
[TBL] [Abstract][Full Text] [Related]
8. Chediak-Higashi syndrome: Lessons from a single-centre case series.
Carneiro IM; Rodrigues A; Pinho L; de Jesus Nunes-Santos C; de Barros Dorna M; Moschione Castro APB; Pastorino AC
Allergol Immunopathol (Madr); 2019; 47(6):598-603. PubMed ID: 31477396
[TBL] [Abstract][Full Text] [Related]
9. Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.
Weisfeld-Adams JD; Mehta L; Rucker JC; Dembitzer FR; Szporn A; Lublin FD; Introne WJ; Bhambhani V; Chicka MC; Cho C
Orphanet J Rare Dis; 2013 Mar; 8():46. PubMed ID: 23521865
[TBL] [Abstract][Full Text] [Related]
10. Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis.
Safavi M; Parvaneh N
Fetal Pediatr Pathol; 2023 Apr; 42(2):259-262. PubMed ID: 35608383
[TBL] [Abstract][Full Text] [Related]
11. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
Dufourcq-Lagelouse R; Lambert N; Duval M; Viot G; Vilmer E; Fischer A; Prieur M; de Saint Basile G
Eur J Hum Genet; 1999 Sep; 7(6):633-7. PubMed ID: 10482950
[TBL] [Abstract][Full Text] [Related]
12. Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients.
Al-Tamemi S; Al-Zadjali S; Al-Ghafri F; Dennison D
J Pediatr Hematol Oncol; 2014 May; 36(4):e248-50. PubMed ID: 24072239
[TBL] [Abstract][Full Text] [Related]
13. Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome.
Jessen B; Maul-Pavicic A; Ufheil H; Vraetz T; Enders A; Lehmberg K; Längler A; Gross-Wieltsch U; Bay A; Kaya Z; Bryceson YT; Koscielniak E; Badawy S; Davies G; Hufnagel M; Schmitt-Graeff A; Aichele P; Zur Stadt U; Schwarz K; Ehl S
Blood; 2011 Oct; 118(17):4620-9. PubMed ID: 21878672
[TBL] [Abstract][Full Text] [Related]
14. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
Introne W; Boissy RE; Gahl WA
Mol Genet Metab; 1999 Oct; 68(2):283-303. PubMed ID: 10527680
[TBL] [Abstract][Full Text] [Related]
15. Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
Gil-Krzewska A; Wood SM; Murakami Y; Nguyen V; Chiang SCC; Cullinane AR; Peruzzi G; Gahl WA; Coligan JE; Introne WJ; Bryceson YT; Krzewski K
J Allergy Clin Immunol; 2016 Apr; 137(4):1165-1177. PubMed ID: 26478006
[TBL] [Abstract][Full Text] [Related]
16. Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
Jin Y; Zhang L; Wang S; Chen F; Gu Y; Hong E; Yu Y; Ni X; Guo Y; Shi T; Xu Z
Sci Rep; 2017 Feb; 7():41308. PubMed ID: 28145517
[TBL] [Abstract][Full Text] [Related]
17. Motor neuronopathy in Chediak-Higashi syndrome.
Mathis S; Cintas P; de Saint-Basile G; Magy L; Funalot B; Vallat JM
J Neurol Sci; 2014 Sep; 344(1-2):203-7. PubMed ID: 25043664
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome].
Zhao J; Wang Z; Zhang L; Sun H; Yang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr; 35(2):188-192. PubMed ID: 29652989
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis of Chediak Higashi disease in a 67-year old woman.
Yarnell DS; Roney JC; Teixeira C; Freitas MI; Cipriano A; Leuschner P; Krzewski K; Stephen J; Dorward H; Gahl WA; Gochuico BR; Toro C; Malicdan MC; Introne WJ
Am J Med Genet A; 2020 Dec; 182(12):3007-3013. PubMed ID: 32990340
[TBL] [Abstract][Full Text] [Related]
20. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.
Nagle DL; Karim MA; Woolf EA; Holmgren L; Bork P; Misumi DJ; McGrail SH; Dussault BJ; Perou CM; Boissy RE; Duyk GM; Spritz RA; Moore KJ
Nat Genet; 1996 Nov; 14(3):307-11. PubMed ID: 8896560
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
