BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 28585352)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.
    Abd Elmaksoud MS; Gomaa NS; Azouz HG; On CNV; Ho CT; Omar TE; McGrath JA; Onoufriadis A
    Clin Exp Dermatol; 2020 Aug; 45(6):789-792. PubMed ID: 32275080
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.
    Ridaura-Sanz C; Durán-McKinster C; Ruiz-Maldonado R
    Pediatr Dermatol; 2018 Nov; 35(6):780-783. PubMed ID: 30338556
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 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. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2.
    Szczawinska-Poplonyk A; Kycler Z; Breborowicz A; Klaudel-Dreszler M; Pac M; Zegadlo-Mylik M; Langfort R
    Viral Immunol; 2011 Dec; 24(6):471-3. PubMed ID: 22111599
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.