262 related articles for article (PubMed ID: 30971555)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Oral features of Griscelli syndrome type II: A rare case report.
Tewari N; Rajwar A; Mathur VP; Chaudhari PK
Spec Care Dentist; 2018 Nov; 38(6):421-425. PubMed ID: 30207398
[TBL] [Abstract][Full Text] [Related]
7. A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B; Rascon J; Chiang SCC; Burnyte B; Löfstedt A; Fasth A; Heizmann M; Juozapaite S; Kiudeliene R; Kvedaraite E; Miseviciene V; Muleviciene A; Müller ML; Nordenskjöld M; Matuzeviciene R; Samaitiene R; Speckmann C; Stankeviciene S; Zekas V; Voss M; Ehl S; Vaiciene-Magistris N; Henter JI; Meeths M; Bryceson YT
J Allergy Clin Immunol; 2018 Jul; 142(1):317-321.e8. PubMed ID: 29522846
[No Abstract] [Full Text] [Related]
8. Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.
Kuskonmaz B; Ayvaz D; Gokce M; Ozgur TT; Okur FV; Cetin M; Tezcan I; Uckan Cetinkaya D
Pediatr Transplant; 2017 Nov; 21(7):. PubMed ID: 28836324
[TBL] [Abstract][Full Text] [Related]
9. Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism.
Woodward KE; Shah RM; Benseler S; Wei XC; Ng D; Grossman J; Hahn C; Thomas MA; Wright NAM; Appendino JP
Pediatr Blood Cancer; 2020 Aug; 67(8):e28312. PubMed ID: 32459386
[No Abstract] [Full Text] [Related]
10. 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]
11. Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature.
Sefsafi Z; Hasbaoui BE; Kili A; Agadr A; Khattab M
Pan Afr Med J; 2018; 29():75. PubMed ID: 29875956
[TBL] [Abstract][Full Text] [Related]
12. Further evidence for genotype-phenotype disparity in Griscelli syndrome.
Lee JYW; Eldeeb MS; Hsu CK; Saito R; Abouzeid SA; McGrath JA
Br J Dermatol; 2017 Apr; 176(4):1086-1089. PubMed ID: 27416802
[No Abstract] [Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. [A hemophagocytic syndrome revealing a Griscelli syndrome type 2].
Jennane S; El Kababri M; Hessissen L; Kili A; Nachef MN; Messaoudi N; Doghmi K; Mikdame M; El Khorassani M; Khattab M
Ann Biol Clin (Paris); 2013; 71(4):461-4. PubMed ID: 23906575
[TBL] [Abstract][Full Text] [Related]
17. Haemophagocytic lymphohistiocytosis and silvery hair in Griscelli syndrome.
Lipsker D
Br J Haematol; 2016 Oct; 175(1):11. PubMed ID: 27434021
[No Abstract] [Full Text] [Related]
18. 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]
19. 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]
20. Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl.
Baumeister FA; Stachel D; Schuster F; Schmid I; Schaller M; Wolff H; Weiss M; Belohradsky BH
Eur J Pediatr; 2000; 159(1-2):74-8. PubMed ID: 10653334
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
