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Items: 1 to 20 of 173

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 1;56(7):1136-9. doi: 10.1002/pbc.22878. Epub 2011 Feb 4.

PMID:
21488161
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. doi: 10.1002/pbc.24637. Epub 2013 Jun 27.

PMID:
23804531
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. doi: 10.1097/MPH.0000000000000300.

PMID:
25551669
4.

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 27;118(17):4620-9. doi: 10.1182/blood-2011-05-356113. Epub 2011 Aug 30.

5.

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. Epub 2005 Mar 25.

PMID:
15896657
6.

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 22;8:46. doi: 10.1186/1750-1172-8-46.

7.

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. doi: 10.1111/ejh.12203. Epub 2013 Oct 24.

PMID:
24112114
8.

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

Certain S, Barrat F, Pastural E, Le Deist F, Goyo-Rivas J, Jabado N, Benkerrou M, Seger R, Vilmer E, Beullier G, Schwarz K, Fischer A, de Saint Basile G.

Blood. 2000 Feb 1;95(3):979-83.

9.

Chediak-Higashi syndrome.

Kaplan J, De Domenico I, Ward DM.

Curr Opin Hematol. 2008 Jan;15(1):22-9. Review.

PMID:
18043242
10.

Hemophagocyctic lymphohistiocytosis developed in a Japanese boy with Chédiak-Higashi syndrome.

Miyamae T, Izaki S, Ikuta K, Yokota S, Yamanaka H.

Nihon Rinsho Meneki Gakkai Kaishi. 2013;36(4):226-32. English, Japanese.

PMID:
23994801
11.

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.

Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz RA.

Hum Mol Genet. 1997 Jul;6(7):1087-9.

PMID:
9215679
12.

Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle.

Kunieda T, Nakagiri M, Takami M, Ide H, Ogawa H.

Mamm Genome. 1999 Dec;10(12):1146-9.

PMID:
10594238
13.

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.

14.

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. doi: 10.1097/MPH.0000000000000025.

PMID:
24072239
15.

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. Review.

PMID:
10527680
16.

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. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21.

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 15;344(1-2):203-7. doi: 10.1016/j.jns.2014.06.026. Epub 2014 Jun 21.

PMID:
25043664
18.

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 Jr, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ.

Nat Genet. 1996 Nov;14(3):307-11.

PMID:
8896560
19.

Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.

Faber IV, Prota JRM, Martinez ARM, Nucci A, Lopes-Cendes I, Júnior MCF.

Muscle Nerve. 2017 May;55(5):756-760. doi: 10.1002/mus.25414. Epub 2017 Feb 3.

PMID:
27669550
20.

A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.

Singh A, Bryan MM, Roney JC, Cullinane AR, Gahl WA, Khurana N, Kapoor S.

Int J Dermatol. 2016 Mar;55(3):317-21. doi: 10.1111/ijd.13019. Epub 2015 Oct 24.

PMID:
26499269

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