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.
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.
Genet Med
; 23(11): 2067-2075, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257421
3.
Hermansky-Pudlak syndrome: Mutation update.
Hum Mutat
; 41(3): 543-580, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898847
4.
Genetic variants associated with Hermansky-Pudlak syndrome.
Platelets
; 31(4): 544-547, 2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32436471
5.
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation.
Biomed Chromatogr
; 34(2): e4735, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691999
6.
Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.
Thorax
; 73(11): 1085-1088, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29941477
7.
Quantification of lectin fluorescence in GNE myopathy muscle biopsies.
Muscle Nerve
; 58(2): 286-292, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603301
8.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Hum Genet
; 136(4): 399-408, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28220259
9.
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
10.
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
Mol Genet Metab
; 120(4): 378-383, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28259707
11.
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
Mol Genet Metab
; 122(1-2): 126-134, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28641925
12.
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
J Med Genet
; 53(5): 318-29, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095636
13.
A congenital neutrophil defect syndrome associated with mutations in VPS45.
N Engl J Med
; 369(1): 54-65, 2013 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23738510
14.
New observation of sialuria prompts detection of liver tumor in previously reported patient.
Mol Genet Metab
; 118(2): 92-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142465
15.
Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.
Am J Med Genet A
; 170(9): 2383-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27311559
16.
The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.
Traffic
; 14(7): 749-66, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23521701
17.
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9.
Am J Hum Genet
; 100(5): 837, 2017 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475864
18.
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
Mol Genet Metab
; 114(1): 62-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468649
19.
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Mol Genet Metab
; 115(2-3): 128-140, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943031
20.
UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
Top Curr Chem
; 366: 97-137, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-23842869