Detalhe da pesquisa
1.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
J Med Genet
; 61(3): 212-223, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788905
2.
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Cell Mol Life Sci
; 80(2): 53, 2023 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36707427
3.
Chediak-Higashi syndrome.
Curr Opin Hematol
; 30(4): 144-151, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37254856
4.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Am J Med Genet A
; 191(2): 490-497, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513625
5.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Am J Hum Genet
; 104(3): 520-529, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30824121
6.
Aortic distensibility in alkaptonuria.
Mol Genet Metab
; 130(4): 289-296, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32466960
7.
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Am J Med Genet A
; 182(12): 3007-3013, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990340
8.
Genetic variants associated with Hermansky-Pudlak syndrome.
Platelets
; 31(4): 544-547, 2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436471
9.
Chediak-Higashi syndrome: a review of the past, present, and future.
Drug Discov Today Dis Models
; 31: 31-36, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33424983
10.
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
Cell Mol Life Sci
; 80(3): 81, 2023 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869920
11.
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.
J Allergy Clin Immunol
; 142(3): 914-927.e6, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29241728
12.
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
Mol Genet Metab
; 125(1-2): 168-173, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055995
13.
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Am J Med Genet A
; 176(12): 2819-2823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30369044
14.
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Hum Genet
; 136(4): 409-420, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213671
15.
Peripheral nervous system manifestations of Chediak-Higashi disease.
Muscle Nerve
; 55(3): 359-365, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27429304
16.
Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.
J Allergy Clin Immunol
; 137(4): 1165-1177, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26478006
17.
Alkaptonuria.
Nat Rev Dis Primers
; 10(1): 16, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453957
18.
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.
Ophthalmol Sci
; 3(1): 100225, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36339947
19.
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Front Genet
; 14: 1072784, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36968585
20.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
NPJ Genom Med
; 8(1): 4, 2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765070