Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

18 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: freire bl. Horm Res Paediatr. 2018;89(1):13-21. doi: 10.1159/000481777. Epub 2017 Nov 9. Horm Res Paediatr. 2018. PMID: 29130988 Clinical Trial.
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. Among authors: freire bl. J Pediatr. 2019 Dec;215:192-198. doi: 10.1016/j.jpeds.2019.08.024. Epub 2019 Oct 17. J Pediatr. 2019. PMID: 31630891
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM, Funari MFA, Malaquias AC, Collett-Solberg PF, Gomes NLRA, Scalco R, Dantas NCB, Rezende RC, Tiburcio AMFP, Souza MAR, Freire BL, Krepischi ACV, Longui CA, Lerario AM, Arnhold IJP, Jorge AAL, Vasques GA. Andrade NLM, et al. Among authors: freire bl. Endocr Connect. 2022 Nov 14;11(12):e220214. doi: 10.1530/EC-22-0214. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36373817 Free PMC article.
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: freire bl. 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: freire bl. Clin Genet. 2024 Nov 25. doi: 10.1111/cge.14659. Online ahead of print. Clin Genet. 2024. PMID: 39586716
18 results