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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.
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: freire bl. 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. 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
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM; Genomics England Research Consortium; Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M. Lin YC, et al. Among authors: freire bl. Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015. Epub 2020 Dec 11. Am J Hum Genet. 2021. PMID: 33308444 Free PMC article.
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.
Leitao Braga B, Lisboa Gomes N, Nishi MY, Freire BL, Batista RL, D Faria Junior JA, Funari MFA, Figueredo Benedetti AF, de Moraes Narcizo A, Cavalca Cardoso L, Lerario AM, Guerra-Junior G, Frade Costa EM, Domenice S, Jorge AAL, Mendonca BB. Leitao Braga B, et al. Among authors: freire bl. Sex Dev. 2022;16(1):27-33. doi: 10.1159/000518091. Epub 2021 Sep 9. Sex Dev. 2022. PMID: 34518484
18 results