| Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma LA Castroneves, FRR Mangone, AM Lerario, AM da Cunha Mercante, ... Journal of the Endocrine Society 8 (6), bvae059, 2024 | | 2024 |
| Clinical Characteristics of Children with THRA mutations: Variable Phenotype and Good Response to rhGH Therapy NLM Andrade, RC Rezende, LG Crisostomo, NCB Dantas, LP Cellin, ... Hormone Research in Paediatrics, 2024 | | 2024 |
| Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of … M Teles, AS Junior, A Costa-Riquetto, L Gomes, L De Santana, A Jorge, ... | | 2024 |
| Burden of rare copy number variants in microcephaly: A brazilian cohort of 185 microcephalic patients and review of the literature GC Tolezano, GC Bastos, SS da Costa, BL Freire, TK Homma, RS Honjo, ... Journal of Autism and Developmental Disorders 54 (3), 1181-1212, 2024 | 3 | 2024 |
| Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders RC Rezende, NLM de Andrade, NCB Dantas, L de Polli Cellin, ... The Journal of Pediatrics 265, 113841, 2024 | 1 | 2024 |
| A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis LML Carvalho, AAL Jorge, DR Bertola, ACV Krepischi, C Rosenberg Current Obesity Reports, 1-25, 2024 | | 2024 |
| Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders GC Tolezano, GC Bastos, SS da Costa, MO Scliar, CFM de Souza, ... Molecular Neurobiology, 1-18, 2024 | | 2024 |
| Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty K Duckett, A Williamson, JWR Kincaid, K Rainbow, LJ Corbin, HC Martin, ... The Journal of Clinical Endocrinology & Metabolism 108 (12), e1580-e1587, 2023 | 6 | 2023 |
| Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant O Akgun-Dogan, F Díaz-González, AA de Lima Jorge, N Onenli-Mungan, ... European Journal of Human Genetics, 1-7, 2023 | | 2023 |
| OR21-02 Diagnostic Yield Of A Multigene Approach In Children With Short Stature Of Unknown Cause NLM De Andrade, MF de Assis Funari, A Malaquias, NC Branco Dantas, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1520, 2023 | | 2023 |
| THU169 Role Of Growth Hormone (GH) Therapy In Short Children With Skeletal Dysplasias And Pathogenic Variants In The COL2A1 Gene L de Polli Cellin, KG Guimaraes, NLM De Andrade, GA Vasques, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1420, 2023 | | 2023 |
| THU166 A Minimum Data Set For The Monitoring Of Recombinant Human Growth Hormone (rhGH) Therapy In Children With Growth Hormone Deficiency (GHD)—A GloBE-Reg Initiative SC Chen, E Charmandari, JH Choi, X Dou, C Gong, R Hamza, J Harvey, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1417, 2023 | | 2023 |
| FRI094 Case Report: Treatment Of Sitosterolemia With Ezetimibe-17 Years Of Follow-up JG Vieira Coutinho, AC Santos Costa, MM Moura Issa, N Pereira Paim, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 608, 2023 | | 2023 |
| THU235 Usefulness Of Digital Droplet Polymerase Chain Reaction (ddPCR) For Molecular Diagnosis Of McCune-Albright Syndrome In DNA From Peripheral Blood Leukocytes AG de Faria, LR Montenegro, AA Lima Jorge, RS Jallad, RM Martin, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1484, 2023 | | 2023 |
| THU160 A Prospective Genetic Analysis Of Children With Idiopathic Short Stature (ISS) Using Whole-exome Sequencing (WES): First Results L de Polli Cellin, NL Menezes De Andrade, RC Rezende, R Rezende, ... Journal of the Endocrine Society 7 (Supplement_1), bvad114. 1411, 2023 | | 2023 |
| Development of A Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone (rhGH) Therapy Use in Children with Growth Hormone Deficiency (GHD)–A GloBE-Reg Initiative SC Chen, J Bryce, M Chen, E Charmandari, JH Choi, X Dou, C Gong, ... Hormone Research in Paediatrics, 2023 | | 2023 |
| Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability NCB Dantas, MFA Funari, AM Lerário, NLM Andrade, RC Rezende, ... European Journal of Endocrinology 189 (3), 387-395, 2023 | 2 | 2023 |
| Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study APM Canton, FR Tinano, L Guasti, LR Montenegro, F Ryan, D Shears, ... The Lancet Diabetes & Endocrinology 11 (8), 545-554, 2023 | 9 | 2023 |
| SIN3A defects associated with syndromic congenital hypogonadotropic hypogonadism: an overlap with Witteveen-Kolk syndrome C Schnöll, ACV Krepischi, AC Renck, LGL Amato, LD Kulikowski, ... Neuroendocrinology 113 (8), 834-843, 2023 | 5 | 2023 |
| Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders NGBP Ferreira, JLO Madeira, P Gergics, R Kertsz, JM Marques, ... Endocrine Connections 12 (8), 2023 | | 2023 |
Berenice Bilharinho de MendonçaFaculdade de Medicina da Universidade de São Paulo在 usp.br 的电子邮件经过验证
