Detalhe da pesquisa
1.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Hum Mol Genet
; 32(3): 386-401, 2023 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35981081
2.
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics
; 17(1): 102, 2023 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37968704
3.
Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.
Mol Biol Rep
; 49(5): 3911-3918, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35229241
4.
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.
Am J Med Genet C Semin Med Genet
; 187(3): 364-372, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34269512
5.
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Genet Mol Biol
; 44(4): 20210061, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34609444
6.
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Am J Med Genet C Semin Med Genet
; 184(4): 955-964, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33258288
7.
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Hum Genomics
; 11(1): 14, 2017 06 26.
Artigo
Inglês
| MEDLINE | ID: mdl-28651617
8.
EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL.
Arq Gastroenterol
; 61: e23104, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38451663
9.
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Sci Rep
; 12(1): 7764, 2022 05 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35546177
10.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Front Genet
; 13: 921324, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36147510
11.
Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.
Sao Paulo Med J
; 140(5): 734-736, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36102462
12.
Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.
Rev Assoc Med Bras (1992)
; 62(3): 202-6, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27310541
13.
Tegumentary manifestations of Noonan and Noonan-related syndromes.
Clinics (Sao Paulo)
; 68(8): 1079-83, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24037001
14.
The first cardiac transplant experience in a patient with mucopolysaccharidosis.
Cardiovasc Pathol
; 21(4): 358-60, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22153556
15.
A clinical follow-up of 35 Brazilian patients with Prader-Willi syndrome.
Clinics (Sao Paulo)
; 67(8): 917-21, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22948460
16.
[Aspects of atherosclerosis and metabolic syndrome in lupus erythematosus]. / Aspectos da aterosclerose e da síndrome metabólica no lúpus eritematoso sistêmico.
Acta Reumatol Port
; 35(3): 294-300, 2010.
Artigo
Português
| MEDLINE | ID: mdl-20975632
17.
Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries.
Int J Dermatol
; 54(6): e241-4, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25778427
18.
Tegumentary manifestations of Noonan and Noonan-related syndromes
Clinics
; 68(8): 1079-1083, 2013. tab, graf
Artigo
Inglês
| LILACS | ID: lil-685434
19.
A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome
Clinics
; 67(8): 917-921, Aug. 2012. graf, tab
Artigo
Inglês
| LILACS | ID: lil-647796
20.
Estudo comparativo entre a síndrome antifosfolípide primária e a secundária: características clínico-laboratoriais em 149 pacientes / Comparative study between primary and secondary antiphospholipid syndrome: clinic and laboratorial characteristics of 149 patients
Rev. bras. reumatol
; 48(6): 329-334, nov.-dez. 2008. tab
Artigo
Português
| LILACS | ID: lil-506655