Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503299
2.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568816
3.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
4.
Disease progression in Sanfilippo type B: Case series of Brazilian patients.
Genet Mol Biol
; 47(1): e20230285, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488524
5.
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Am J Med Genet A
; 191(9): 2274-2289, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387251
6.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
7.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
8.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Am J Med Genet A
; 188(3): 760-767, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34806811
9.
TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.
J Med Genet
; 58(3): 213-216, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332102
10.
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.
BMC Pediatr
; 22(1): 492, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986266
11.
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Mol Genet Metab
; 133(1): 94-99, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33678523
12.
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
Mov Disord
; 36(9): 2027-2035, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33893680
13.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
J Paediatr Child Health
; 57(4): 519-525, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33377563
14.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257258
15.
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Mol Genet Metab
; 129(4): 292-302, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32033912
16.
High glucose level as a modifier factor in CMT1A patients.
J Peripher Nerv Syst
; 25(2): 132-137, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347995
17.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346496
18.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
19.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27509102
20.
Natural History of Vanishing White Matter.
Ann Neurol
; 84(2): 274-288, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014503