187 related articles for article (PubMed ID: 20591709)
1. Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Vincent LM; Gilbert F; DiPace JI; Ciccone C; Markello TC; Jeong A; Dorward H; Westbroek W; Gahl WA; Bussel JB; Huizing M
Mol Genet Metab; 2010 Sep; 101(1):62-5. PubMed ID: 20591709
[TBL] [Abstract][Full Text] [Related]
2. Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Meschede IP; Santos TO; Izidoro-Toledo TC; Gurgel-Gianetti J; Espreafico EM
Braz J Med Biol Res; 2008 Oct; 41(10):839-48. PubMed ID: 19030707
[TBL] [Abstract][Full Text] [Related]
3. Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Ohishi Y; Ammann S; Ziaee V; Strege K; Groß M; Amos CV; Shahrooei M; Ashournia P; Razaghian A; Griffiths GM; Ehl S; Fukuda M; Parvaneh N
Front Immunol; 2020; 11():612977. PubMed ID: 33362801
[TBL] [Abstract][Full Text] [Related]
4. A novel RAB27A mutation in a patient with Griscelli syndrome type 2.
Shamsian BS; Norbakhsh K; Rezaei N; Safari A; Gharib A; Pourpak Z; Alavi S; Parvaneh N; Arzanian MT
J Investig Allergol Clin Immunol; 2010; 20(7):612-5. PubMed ID: 21314004
[TBL] [Abstract][Full Text] [Related]
5. Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.
Bizario JC; Feldmann J; Castro FA; Ménasché G; Jacob CM; Cristofani L; Casella EB; Voltarelli JC; de Saint-Basile G; Espreafico EM
J Clin Immunol; 2004 Jul; 24(4):397-410. PubMed ID: 15163896
[TBL] [Abstract][Full Text] [Related]
6. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M; Bryceson YT; Rudd E; Zheng C; Wood SM; Ramme K; Beutel K; Hasle H; Heilmann C; Hultenby K; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI
Pediatr Blood Cancer; 2010 Apr; 54(4):563-72. PubMed ID: 19953648
[TBL] [Abstract][Full Text] [Related]
7. A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Grandin V; Sepulveda FE; Lambert N; Al Zahrani M; Al Idrissi E; Al-Mousa H; Almanjomi F; Al-Ghonaium A; K Habazi M; A Alghamdi H; Picard C; Bole-Feysot C; Nitschke P; Ménasché G; de Saint Basile G
Hum Mutat; 2017 Oct; 38(10):1355-1359. PubMed ID: 28585352
[TBL] [Abstract][Full Text] [Related]
8. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
Ménasché G; Ho CH; Sanal O; Feldmann J; Tezcan I; Ersoy F; Houdusse A; Fischer A; de Saint Basile G
J Clin Invest; 2003 Aug; 112(3):450-6. PubMed ID: 12897212
[TBL] [Abstract][Full Text] [Related]
9. Seizure as the presenting manifestation in Griscelli syndrome type 2.
Panigrahi I; Suthar R; Rawat A; Behera B
Pediatr Neurol; 2015 May; 52(5):535-8. PubMed ID: 25801174
[TBL] [Abstract][Full Text] [Related]
10. Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.
Anikster Y; Huizing M; Anderson PD; Fitzpatrick DL; Klar A; Gross-Kieselstein E; Berkun Y; Shazberg G; Gahl WA; Hurvitz H
Am J Hum Genet; 2002 Aug; 71(2):407-14. PubMed ID: 12058346
[TBL] [Abstract][Full Text] [Related]
11. Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.
Krzewski K; Cullinane AR
Exp Cell Res; 2013 Sep; 319(15):2360-7. PubMed ID: 23810987
[TBL] [Abstract][Full Text] [Related]
12. Molecular analysis and clinical findings of Griscelli syndrome patients.
Durmaz A; Ozkinay F; Onay H; Tombuloglu M; Atay A; Gursel O; Peker E; Atmaca M; Genel F; Bozabali S; Akin H; Ozkinay C
J Pediatr Hematol Oncol; 2012 Oct; 34(7):541-4. PubMed ID: 22983416
[TBL] [Abstract][Full Text] [Related]
13. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.
Rajyalakshmi R; Chakrapani RN
Indian J Pathol Microbiol; 2016; 59(1):113-6. PubMed ID: 26960655
[TBL] [Abstract][Full Text] [Related]
14. Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
Zhang Q; Zhao YZ; Ma HH; Wang D; Zhang N; Li ZG; Zhang R
BMC Pediatr; 2021 May; 21(1):253. PubMed ID: 34058999
[TBL] [Abstract][Full Text] [Related]
15. Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.
Mamishi S; Modarressi MH; Pourakbari B; Tamizifar B; Mahjoub F; Fahimzad A; Alyasin S; Bemanian MH; Hamidiyeh AA; Fazlollahi MR; Ashrafi MR; Isaeian A; Khotaei G; Yeganeh M; Parvaneh N
J Clin Immunol; 2008 Jul; 28(4):384-9. PubMed ID: 18350256
[TBL] [Abstract][Full Text] [Related]
16. A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Al-Sulaiman R; Othman A; El-Akouri K; Fareed S; AlMulla H; Sukik A; Al-Mureikhi M; Shahbeck N; Ali R; Al-Mesaifri F; Musa S; Al-Mulla M; Ibrahim K; Mohamed K; Al-Nesef MA; Ehlayel M; Ben-Omran T
Am J Med Genet A; 2020 Nov; 182(11):2570-2580. PubMed ID: 32856792
[TBL] [Abstract][Full Text] [Related]
17. Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.
Yeetong P; Suphapeetiporn K; Shotelersuk V
World J Pediatr; 2017 Aug; 13(4):392-394. PubMed ID: 28484936
[No Abstract] [Full Text] [Related]
18. Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.
Gupta D; Thakral D; Bakhshi S; Kabra SK; Mitra DK
Indian J Pathol Microbiol; 2019; 62(2):279-282. PubMed ID: 30971555
[TBL] [Abstract][Full Text] [Related]
19. Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations.
Russ A; Mack J; Green-Murphy A; Occidental M; Mian A
J Pediatr Hematol Oncol; 2019 Aug; 41(6):473-477. PubMed ID: 31233462
[TBL] [Abstract][Full Text] [Related]
20. Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.
Gotesman R; Ramien M; Armour CM; Pham-Huy A; Kirshen C
Pediatr Dermatol; 2021 Jan; 38(1):194-197. PubMed ID: 32965739
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
