Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 103

1.

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. doi: 10.1002/pbc.22357.

PMID:
19953648
2.

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. doi: 10.1016/j.jaci.2014.08.039.

3.

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.

PMID:
15163896
4.

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.

5.

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. doi: 10.1016/j.ymgme.2010.05.015.

6.

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC.

Hum Mutat. 2006 Jan;27(1):62-8.

PMID:
16278825
7.

A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.

Zhang M, Bracaglia C, Prencipe G, Bemrich-Stolz CJ, Beukelman T, Dimmitt RA, Chatham WW, Zhang K, Li H, Walter MR, De Benedetti F, Grom AA, Cron RQ.

J Immunol. 2016 Mar 15;196(6):2492-503. doi: 10.4049/jimmunol.1501284.

PMID:
26880764
8.

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. doi: 10.1016/j.pediatrneurol.2015.01.010.

PMID:
25801174
9.

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. doi: 10.1159/000203646.

PMID:
19270433
10.

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.

PMID:
22983416
11.

Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.

Krzewski K, Cullinane AR.

Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Review.

12.

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity.

Wood SM, Meeths M, Chiang SC, Bechensteen AG, Boelens JJ, Heilmann C, Horiuchi H, Rosthøj S, Rutynowska O, Winiarski J, Stow JL, Nordenskjöld M, Henter JI, Ljunggren HG, Bryceson YT.

Blood. 2009 Nov 5;114(19):4117-27. doi: 10.1182/blood-2009-06-225359.

13.

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. doi: 10.1007/s10875-008-9192-5.

PMID:
18350256
14.

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.

15.

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.

16.

Griscelli syndrome: description of a case with Rab27A mutation.

Aslan D, Sari S, Derinöz O, Dalgiç B.

Pediatr Hematol Oncol. 2006 Apr-May;23(3):255-61. Review.

PMID:
16517541
17.

A further Turkish case of Griscelli syndrome with new RAB27A mutation.

Onay H, Balkan C, Cogulu O, Aydinok Y, Karapinar DY, Ozkinay F.

J Am Acad Dermatol. 2008 May;58(5 Suppl 1):S115-6. doi: 10.1016/j.jaad.2007.05.002. No abstract available.

PMID:
18489042
18.

Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.

Mishra K, Singla S, Sharma S, Saxena R, Batra VV.

Korean J Pediatr. 2014 Feb;57(2):91-5. doi: 10.3345/kjp.2014.57.2.91.

19.

Griscelli syndrome type 2: a rare and lethal disorder.

Masri A, Bakri FG, Al-Hussaini M, Al-Hadidy A, Hirzallah R, de Saint Basile G, Hamamy H.

J Child Neurol. 2008 Aug;23(8):964-7. doi: 10.1177/0883073808315409.

PMID:
18403584
20.

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

Menasche G, Feldmann J, Houdusse A, Desaymard C, Fischer A, Goud B, de Saint Basile G.

Blood. 2003 Apr 1;101(7):2736-42.

Items per page

Supplemental Content

Support Center