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Items: 1 to 20 of 132

1.

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.

2.

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
3.

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
4.

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
5.

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.

Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda S, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y.

J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):1024-8. doi: 10.1136/jnnp-2013-306981. Epub 2014 Feb 12.

PMID:
24521565
6.

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.

7.

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
8.

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 SC, Cullinane AR, Peruzzi G, Gahl WA, Coligan JE, Introne WJ, Bryceson YT, Krzewski K.

J Allergy Clin Immunol. 2016 Apr;137(4):1165-77. doi: 10.1016/j.jaci.2015.08.039. Epub 2015 Oct 21.

9.

Chediak-Higashi syndrome.

Kaplan J, De Domenico I, Ward DM.

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

PMID:
18043242
10.

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
11.

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
12.

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
13.

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.

Desai N, Weisfeld-Adams JD, Brodie SE, Cho C, Curcio CA, Lublin F, Rucker JC.

Br J Ophthalmol. 2016 May;100(5):704-7. doi: 10.1136/bjophthalmol-2015-307012. Epub 2015 Aug 25.

PMID:
26307451
14.

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
15.

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
16.

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.

17.

Adult Chediak-Higashi parkinsonian syndrome with dystonia.

Hauser RA, Friedlander J, Baker MJ, Thomas J, Zuckerman KS.

Mov Disord. 2000 Jul;15(4):705-8.

PMID:
10928582
18.

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
19.

Chediak-Higashi syndrome mutation and genetic testing in Japanese black cattle (Wagyu).

Yamakuchi H, Agaba M, Hirano T, Hara K, Todoroki J, Mizoshita K, Kubota C, Tabara N, Sugimoto Y.

Anim Genet. 2000 Feb;31(1):13-9.

PMID:
10690356
20.

Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic response.

Wang L, Kantovitz KR, Cullinane AR, Nociti FH Jr, Foster BL, Roney JC, Tran AB, Introne WJ, Somerman MJ.

Orphanet J Rare Dis. 2014 Dec 21;9:212. doi: 10.1186/s13023-014-0212-7.

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