Search details
1.
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
Am J Med Genet A
; 185(3): 774-780, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33382187
2.
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients.
Genet Mol Biol
; 42(4): e20180197, 2020.
Article
in English
| MEDLINE | ID: mdl-31429861
3.
Evaluation of SHOX defects in the era of next-generation sequencing.
Clin Genet
; 96(3): 261-265, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31219618
4.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain
; 141(8): 2299-2311, 2018 08 01.
Article
in English
| MEDLINE | ID: mdl-29985992
5.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Genet Med
; 20(1): 91-97, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28661490
6.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29265571
7.
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.
Article
in English
| MEDLINE | ID: mdl-28590503
8.
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.
Eur J Endocrinol
; 189(3): 387-395, 2023 Sep 01.
Article
in English
| MEDLINE | ID: mdl-37695807
9.
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.
J Clin Endocrinol Metab
; 108(8): 2105-2114, 2023 Jul 14.
Article
in English
| MEDLINE | ID: mdl-36652439
10.
Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.
Horm Res Paediatr
; 95(3): 264-274, 2022.
Article
in English
| MEDLINE | ID: mdl-35390795
11.
Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital.
Clinics (Sao Paulo)
; 77: 100132, 2022.
Article
in English
| MEDLINE | ID: mdl-36288632
12.
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.
Article
in English
| MEDLINE | ID: mdl-34518484
13.
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
PLoS One
; 15(10): e0240795, 2020.
Article
in English
| MEDLINE | ID: mdl-33095795
14.
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
J Clin Endocrinol Metab
; 105(8)2020 08 01.
Article
in English
| MEDLINE | ID: mdl-32311039
15.
Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.
Eur J Med Genet
; 62(3): 186-189, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-30006057
16.
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.
Article
in English
| MEDLINE | ID: mdl-30602027
17.
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 104(7): 2827-2841, 2019 07 01.
Article
in English
| MEDLINE | ID: mdl-30830215
18.
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.
Article
in English
| MEDLINE | ID: mdl-31715605
19.
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.
Endocr Connect
; 8(5): 590-595, 2019 May 01.
Article
in English
| MEDLINE | ID: mdl-30959475
20.
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.
Horm Res Paediatr
; 91(4): 252-261, 2019.
Article
in English
| MEDLINE | ID: mdl-31132774