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17 results

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Page 1
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.
Magrino J, Munford V, Martins DJ, Homma TK, Page B, Gaubitz C, Freire BL, Lerario AM, Vilar JB, Amorin A, Leão EKE, Kok F, Menck CF, Jorge AA, Kelch BA. Magrino J, et al. Among authors: homma tk. J Biol Chem. 2023 May;299(5):104656. doi: 10.1016/j.jbc.2023.104656. Epub 2023 Mar 27. J Biol Chem. 2023. PMID: 36990216 Free PMC article.
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: homma tk. Eur J Endocrinol. 2020 Feb;182(2):139-147. doi: 10.1530/EJE-19-0785. Eur J Endocrinol. 2020. PMID: 31751304
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: homma tk. 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.
Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.
Braga BL, da Cunha Scalco R, Homma TK, Freire BL, Cellin LP, Canton APM, Lerario AM, de Assis Funari MF, de Souza V, Bertola DR, Malaquias AC, Mendonca BB, de Lima Jorge AA. Braga BL, et al. Among authors: homma tk. Clin Genet. 2024 Nov 25. doi: 10.1111/cge.14659. Online ahead of print. Clin Genet. 2024. PMID: 39586716
Evaluation of SHOX defects in the era of next-generation sequencing.
Funari MFA, de Barros JS, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonca BB, Nishi MY, Jorge AAL. Funari MFA, et al. Among authors: homma tk. Clin Genet. 2019 Sep;96(3):261-265. doi: 10.1111/cge.13587. Epub 2019 Jul 4. Clin Genet. 2019. PMID: 31219618 Free article.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Homma TK, et al. J Pediatr. 2019 Dec;215:192-198. doi: 10.1016/j.jpeds.2019.08.024. Epub 2019 Oct 17. J Pediatr. 2019. PMID: 31630891
17 results