Detalhe da pesquisa
1.
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.
J Biol Chem
; 299(5): 104656, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990216
2.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
3.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Am J Med Genet A
; 191(5): 1282-1292, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36826837
4.
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients.
Genet Mol Biol
; 42(4): e20180197, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31429861
5.
Evaluation of SHOX defects in the era of next-generation sequencing.
Clin Genet
; 96(3): 261-265, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31219618
6.
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.
Sex Dev
; 16(1): 27-33, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518484
7.
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Endocr Connect
; 11(12)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373817
8.
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
J Clin Endocrinol Metab
; 104(6): 2023-2030, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30602027
9.
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
Horm Res Paediatr
; 92(2): 115-123, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31715605
10.
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Eur J Med Genet
; 61(3): 130-133, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29133208
11.
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Horm Res Paediatr
; 89(1): 13-21, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130988