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.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.
Arq Neuropsiquiatr
; 81(7): 685-695, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336507
14.
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.
Brain Sci
; 13(8)2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626540
15.
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.
Eur J Hum Genet
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932364
16.
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.
Brain Sci
; 13(11)2023 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002481
17.
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
Congenit Anom (Kyoto)
; 61(5): 148-158, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33900643
18.
Neurological growth and development of children asymptomatic at birth whose mothers had Zika during pregnancy.
Rev Soc Bras Med Trop
; 54: e01802020, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33605376
19.
Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers.
Mol Genet Metab Rep
; 24: 100624, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32742934
20.
A large family with CYLD cutaneous syndrome: medical genetics at the community level.
J Community Genet
; 11(3): 279-284, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792733