Detalhe da pesquisa
1.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270938
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.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Hum Mutat
; 43(7): 900-918, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344616
5.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Am J Med Genet A
; 185(8): 2335-2344, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988290
6.
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
Am J Med Genet A
; 185(3): 774-780, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33382187
7.
Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil.
Pituitary
; 24(2): 252-261, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33156432
8.
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil.
Am J Med Genet C Semin Med Genet
; 184(4): 896-911, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128510
9.
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
10.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985992
11.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Genet Med
; 20(1): 91-97, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661490
12.
Novel SUZ12 mutations in Weaver-like syndrome.
Clin Genet
; 94(5): 461-466, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019515
13.
Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.
Neuroendocrinology
; 107(2): 127-132, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29763903
14.
Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect.
Genet Mol Biol
; 40(2): 436-441, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28590503
15.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
J Med Genet
; 52(6): 413-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25795793
16.
Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly.
Pituitary
; 18(5): 666-73, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25552351
17.
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.
Pituitary
; 18(4): 561-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25315032
18.
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
J Med Genet
; 51(6): 413-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24744436
19.
Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.
Genet Med
; 21(1): 260, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959388
20.
Further evidence of the importance of RIT1 in Noonan syndrome.
Am J Med Genet A
; 164A(11): 2952-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25124994