BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 30971555)

  • 21. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
    Cetica V; Hackmann Y; Grieve S; Sieni E; Ciambotti B; Coniglio ML; Pende D; Gilmour K; Romagnoli P; Griffiths GM; Aricò M
    J Allergy Clin Immunol; 2015 May; 135(5):1310-8.e1. PubMed ID: 25312756
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Griscelli syndrome: description of a case with Rab27A mutation.
    Aslan D; Sari S; Derinöz O; Dalgiç B
    Pediatr Hematol Oncol; 2006; 23(3):255-61. PubMed ID: 16517541
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation.
    Rossi A; Borroni RG; Carrozzo AM; de Felice C; Menichelli A; Carlesimo M; Calvieri S
    Dermatology; 2009; 218(4):376-9. PubMed ID: 19270433
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT.
    Schuster F; Stachel DK; Schmid I; Baumeister FA; Graubner UB; Weiss M; Haas RJ; Belohradsky BH
    Bone Marrow Transplant; 2001 Aug; 28(4):409-12. PubMed ID: 11571516
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
    Netter P; Chan SK; Banerjee PP; Monaco-Shawver L; Noroski LM; Hanson IC; Forbes LR; Mace EM; Chinen J; Gaspar HB; Sleiman P; Hakonarson H; Klein C; Ehlayel MS; Orange JS
    J Allergy Clin Immunol; 2016 Aug; 138(2):599-601.e3. PubMed ID: 27016801
    [No Abstract]   [Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
    Zondag TCE; Torralba-Raga L; Van Laar JAM; Hermans MAW; Bouman A; Hollink IHIM; Van Hagen PM; Briggs DA; Hume AN; Bryceson YT
    J Clin Immunol; 2022 Nov; 42(8):1685-1695. PubMed ID: 35870028
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Natural killer cell cytotoxic activity in critical pediatric patients with suspected hemophagocytic syndrome].
    Martínez I; Fernández L; Valentín J; Castillo C; Chamorro C; Pérez-Martínez A
    Med Intensiva; 2015 May; 39(4):213-21. PubMed ID: 25081072
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Diagnostic and therapeutic caveats in Griscelli syndrome.
    Castaño-Jaramillo LM; Lugo-Reyes SO; Cruz Muñoz ME; Scheffler-Mendoza SC; Duran McKinster C; Yamazaki-Nakashimada MA; Espinosa-Padilla SE; Saez-de-Ocariz Gutierrez MDM
    Scand J Immunol; 2021 Jun; 93(6):e13034. PubMed ID: 33660295
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Hemophagocytic lymphohistiocytosis in children with Griscelli syndrome type 2: genetics, laboratory findings and treatment.
    Cay E; Sezer A; Karakulak V; Serbes M; Ozcan D; Bisgin A; Aygunes U; Sasmaz HI; Yucel SP; Toyran T; Altintas DU
    Am J Clin Exp Immunol; 2023; 12(6):140-152. PubMed ID: 38187365
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A case of Griscelli syndrome.
    Kerketta JA; Lodh M; Mandal K
    Dermatol Online J; 2014 Nov; 20(11):. PubMed ID: 25419745
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Griscelli syndrome associated with hemophagocytic lymphohistiocytosis.
    Love PB; Patterson SS; Prose NS; Atwater AR
    J Drugs Dermatol; 2012 Sep; 11(9):1126. PubMed ID: 23135662
    [No Abstract]   [Full Text] [Related]  

  • 40. Silvery Gray Hair Syndrome With Hemophagocytic Lymphohistiocytosis: A Case Report.
    Chalipat S; Kulkarni V; Malwade S; Shah P; Bijaspur P
    Cureus; 2024 Mar; 16(3):e55649. PubMed ID: 38586648
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.