Associated Papers
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J et al.
Journal of Clinical Immunology, 2024
Silver hair in a neonate: a tale of 2 fatal cases.
Kumar LS et al.
Oxford Medical Case Reports, 2024
Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M et al.
Transplantation and Cellular Therapy, 2024
Genetic background of primary and familial HLH in Qatar: registry data and population study.
Elgaali E et al.
Frontiers in Pediatrics, 2024
Visceral Leishmaniasis Revealing Undiagnosed Inborn Errors of Immunity.
Carvalho DG et al.
Revista Da Sociedade Brasileira De Medicina Tropical, 2023
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding.
Zondag TCE et al.
Journal of Clinical Immunology, 2022
The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism.
Lee Y et al.
Annals of Laboratory Medicine, 2022
Cutaneous granulomas as the presenting manifestation of Griscelli syndrome type 2.
Gotesman R et al.
Pediatric Dermatology, 2021
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.
Ohishi Y et al.
Frontiers in Immunology, 2020
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Oral features of Griscelli syndrome type II: A rare case report.
Tewari N et al.
Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry, 2018
A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B et al.
The Journal of Allergy and Clinical Immunology, 2018
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
Woon ST et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
Cetica V et al.
The Journal of Allergy and Clinical Immunology, 2015
Seizure as the presenting manifestation in Griscelli syndrome type 2.
Panigrahi I et al.
Pediatric Neurology, 2015
An Indian boy with griscelli syndrome type 2: case report and review of literature.
Singh A et al.
Indian Journal of Dermatology, 2014
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M et al.
Pediatric Blood & Cancer, 2010
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
Schweiger M et al.
American Journal of Physiology. Endocrinology and Metabolism, 2009
Griscelli syndrome: a model system to study vesicular trafficking.
Van Gele M et al.
Pigment Cell & Melanoma Research, 2009
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Meschede IP et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2008
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Westbroek W et al.
Molecular Genetics and Metabolism, 2008