Detalhe da pesquisa
1.
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
2.
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
3.
Epidermolysis Bullosa Pruriginosa: An Unusual Presentation of a Simplex Variant.
Am J Dermatopathol
; 42(4): 272-274, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31809273
4.
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Am J Med Genet A
; 164A(7): 1659-65, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700634
5.
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.
Genet Mol Biol
; 37(1): 23-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24688287
6.
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.
Genes (Basel)
; 15(4)2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674447
7.
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
Genes (Basel)
; 15(4)2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674450
8.
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
Genes (Basel)
; 15(2)2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397201
9.
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.
Genet Mol Biol
; 36(4): 502-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385852
10.
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.
Genes (Basel)
; 14(12)2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137041
11.
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.
Arq Neuropsiquiatr
; 81(9): 809-815, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37793403
12.
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review.
Genes (Basel)
; 13(12)2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553645
13.
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB.
Psychiatr Genet
; 31(5): 199-204, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347683
14.
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
JIMD Rep
; 60(1): 23-31, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258138
15.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
J Inherit Metab Dis
; 33 Suppl 3: S257-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20596894
16.
Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene.
Clin Cosmet Investig Dermatol
; 13: 1-10, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32021365
17.
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes.
Eur J Hum Genet
; 27(5): 760-771, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30700833
18.
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Mol Genet Genomic Med
; 7(11): e877, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31508908
19.
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
JIMD Rep
; 49(1): 96-106, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497487
20.
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes.
Am J Med Genet A
; 146A(21): 2740-5, 2008 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18819152