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.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Am J Med Genet C Semin Med Genet
; 187(3): 349-356, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960103
4.
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
5.
Defining dysmorphic facial features in congenital Zika syndrome.
Am J Med Genet A
; 185(2): 424-433, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33215846
6.
Genomic imbalances in craniofacial microsomia.
Am J Med Genet C Semin Med Genet
; 184(4): 970-985, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33215817
7.
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
Am J Med Genet A
; 176(9): 1917-1928, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30070764
8.
Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate.
J Clin Lab Anal
; 32(6): e22428, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29512191
9.
Hydrocephalus associated to congenital Zika syndrome: does shunting improve clinical features?
Childs Nerv Syst
; 34(1): 101-106, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29086073
10.
Lingual Frenulum Phenotypes in Brazilian Infants With Congenital Zika Syndrome.
Cleft Palate Craniofac J
; 55(10): 1391-1398, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29613837
11.
The phenotypic spectrum of congenital Zika syndrome.
Am J Med Genet A
; 173(4): 841-857, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328129
12.
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
MMWR Morb Mortal Wkly Rep
; 65(3): 59-62, 2016 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820244
13.
Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil.
MMWR Morb Mortal Wkly Rep
; 65(47): 1343-1348, 2016 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27906905
14.
A clinical multicenter study of orofacial features in 26 brazilian patients with different types of mucopolysaccharidosis.
Cleft Palate Craniofac J
; 52(3): 352-8, 2015 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24919127
15.
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Cleft Palate Craniofac J
; 52(4): 411-6, 2015 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805874
16.
Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.
Cerebellum
; 13(1): 17-28, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23943520
17.
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
18.
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.
J Pediatr Genet
; 13(2): 90-98, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721574
19.
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
Genes (Basel)
; 15(4)2024 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674452
20.
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Mol Genet Metab Rep
; 38: 101060, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469103