Detalhe da pesquisa
1.
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Int J Equity Health
; 22(1): 11, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639662
2.
The Minimum Data Set for Rare Diseases: Systematic Review.
J Med Internet Res
; 25: e44641, 2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37498666
3.
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
4.
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Hum Genet
; 140(6): 879-884, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386993
5.
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Clin Genet
; 98(3): 251-260, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557569
6.
Osteogenesis imperfecta and hearing loss: an analysis of patients attended at a benchmark treatment center in southern Brazil.
Eur Arch Otorhinolaryngol
; 277(4): 1005-1012, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006148
7.
Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center.
Genet Mol Biol
; 42(1 suppl 1): 252-260, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31067290
8.
Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™.
BMC Pediatr
; 18(1): 95, 2018 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499676
9.
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
Hum Mol Genet
; 23(10): 2711-20, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24442519
10.
Study of the Determinants of Vitamin D Status in Pediatric Patients With Osteogenesis Imperfecta.
J Am Coll Nutr
; 35(4): 339-45, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26709914
11.
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.
Hum Mutat
; 36(11): 1029-33, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123647
12.
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
Genet Mol Biol
; 38(1): 14-20, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983619
13.
Molecular analysis of holoprosencephaly in South America.
Genet Mol Biol
; 37(1 Suppl): 250-62, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764759
14.
Muscle strength, joint range of motion, and gait in children and adolescents with osteogenesis imperfecta.
Pediatr Phys Ther
; 26(2): 245-52, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24675130
15.
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
16.
Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network.
Public Health Genomics
; 26(1): 145-158, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37356424
17.
Maternal drinking behavior and Fetal Alcohol Spectrum Disorders in adolescents with criminal behavior in southern Brazil.
Genet Mol Biol
; 35(4 (suppl)): 960-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23412828
18.
Does universal newborn hearing screening impact the timing of deafness treatment?
J Pediatr (Rio J)
; 98(2): 147-154, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34166624
19.
Etiology of early hearing loss in Brazilian children.
Braz J Otorhinolaryngol
; 88 Suppl 1: S33-S41, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-33839059
20.
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study.
Neurol Genet
; 8(6): e200024, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36313066