Associated Papers
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
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Correction of Griscelli Syndrome Type 2 causing mutations in the RAB27A gene with CRISPR/Cas9.
Erol ÖD et al.
Turkish Journal of Biology = Turk Biyoloji Dergisi, 2024
Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.
Tajik S et al.
Scandinavian Journal of Immunology, 2023
Development, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells.
Güney-Esken G et al.
Stem Cell Research & Therapy, 2021
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B et al.
Genome Medicine, 2015
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
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M et al.
Pediatric Blood & Cancer, 2010
Griscelli syndrome: a model system to study vesicular trafficking.
Van Gele M et al.
Pigment Cell & Melanoma Research, 2009
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