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Page 1
Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E, Ferreira de Assis Funari M, Pereira de Souza Quedas E, Sayuri Honjo Kawahira R, Soares Jallad R, Homma TK, Martin RM, Brito VN, Malaquias AC, Lerario AM, Rosenberg C, Victorino Krepischi AC, Ae Kim C, Arnhold IJP, Jorge AAL. Vasco de Albuquerque Albuquerque E, et al. Among authors: rosenberg c. Eur J Endocrinol. 2020 Feb;182(2):139-147. doi: 10.1530/EJE-19-0785. Eur J Endocrinol. 2020. PMID: 31751304
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Homma TK, et al. Among authors: rosenberg c. Horm Res Paediatr. 2018;89(1):13-21. doi: 10.1159/000481777. Epub 2017 Nov 9. Horm Res Paediatr. 2018. PMID: 29130988 Clinical Trial.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC. Canton APM, et al. Among authors: rosenberg c. Hum Reprod. 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. Hum Reprod. 2021. PMID: 33313884
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
da Rocha LA, Pires LVL, Yamamoto GL, Magliocco Ceroni JR, Honjo RS, de Novaes França Bisneto E, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. da Rocha LA, et al. Among authors: rosenberg c. Clin Genet. 2021 Nov;100(5):615-623. doi: 10.1111/cge.14041. Epub 2021 Aug 9. Clin Genet. 2021. PMID: 34341987
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano GC, Bastos GC, da Costa SS, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, de Lima Jorge AA, Bertola DR, Rosenberg C, Krepischi ACV. Tolezano GC, et al. Among authors: rosenberg c. J Autism Dev Disord. 2024 Mar;54(3):1181-1212. doi: 10.1007/s10803-022-05853-z. Epub 2022 Dec 11. J Autism Dev Disord. 2024. PMID: 36502452 Review.
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. Samogy-Costa CI, et al. Among authors: rosenberg c. J Neurodev Disord. 2019 Jul 18;11(1):13. doi: 10.1186/s11689-019-9273-1. J Neurodev Disord. 2019. PMID: 31319798 Free PMC article.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar M, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Costa CIS, et al. Among authors: rosenberg c. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072. Epub 2021 Nov 15. Clin Genet. 2022. PMID: 34664255
840 results