Funari MFA - Search Results

1

Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients.

Villela TR, Freire BL, Braga NTP, Arantes RR, Funari MFA, Alexander JAL, Silva IN. Villela TR, et al. Among authors: funari mfa. Genet Mol Biol. 2020 Jan 20;42(4):e20180197. doi: 10.1590/1678-4685-GMB-2018-0197. eCollection 2020. Genet Mol Biol. 2020. PMID: 31429861 Free PMC article.

2

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect.

Scalco RC, Gonçalves FT, Santos HC, Cardena MMSG, Tonelli CA, Funari MFA, Aracava RM, Pereira AC, Fridman C, Jorge AAL. Scalco RC, et al. Among authors: funari mfa. Genet Mol Biol. 2017 Apr-Jun;40(2):436-441. doi: 10.1590/1678-4685-GMB-2016-0231. Epub 2017 Jun 5. Genet Mol Biol. 2017. PMID: 28590503 Free PMC article.

3

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL. Freire BL, et al. Among authors: funari mfa. Eur J Med Genet. 2018 Mar;61(3):130-133. doi: 10.1016/j.ejmg.2017.11.003. Epub 2017 Nov 10. Eur J Med Genet. 2018. PMID: 29133208 Review.

4

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, Arnhold IJP, Jorge AAL. Freire BL, et al. Among authors: funari mfa. J Clin Endocrinol Metab. 2019 Jun 1;104(6):2023-2030. doi: 10.1210/jc.2018-01971. J Clin Endocrinol Metab. 2019. PMID: 30602027

5

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. Clin Genet. 2019 Sep;96(3):261-265. doi: 10.1111/cge.13587. Epub 2019 Jul 4. Clin Genet. 2019. PMID: 31219618 Free article.

6

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Homma TK, Freire BL, Honjo R, Dauber A, Funari MFA, Lerario AM, Albuquerque EVA, Vasques GA, Bertola DR, Kim CA, Malaquias AC, Jorge AAL. Homma TK, et al. Among authors: funari mfa. Horm Res Paediatr. 2019;92(2):115-123. doi: 10.1159/000503782. Epub 2019 Nov 12. Horm Res Paediatr. 2019. PMID: 31715605 Review.

7

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: funari mfa. Sex Dev. 2022;16(1):27-33. doi: 10.1159/000518091. Epub 2021 Sep 9. Sex Dev. 2022. PMID: 34518484

8

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

França MM, Lerario AM, Funari MFA, Nishi MY, Narcizo AM, de Mello MP, Guerra-Junior G, Maciel-Guerra AT, Mendonça BB. França MM, et al. Among authors: funari mfa. Sex Dev. 2017;11(3):137-142. doi: 10.1159/000477193. Epub 2017 Jun 8. Sex Dev. 2017. PMID: 28591755

9

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

França MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB. França MM, et al. Among authors: funari mfa. Clin Genet. 2018 Feb;93(2):408-411. doi: 10.1111/cge.13156. Epub 2017 Dec 26. Clin Genet. 2018. PMID: 29044499 Free article.

10

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

França MM, Funari MFA, Lerario AM, Nishi MY, Pita CC, Fontenele EGP, Mendonca BB. França MM, et al. Among authors: funari mfa. Endocrine. 2017 Dec;58(3):442-447. doi: 10.1007/s12020-017-1459-2. Epub 2017 Oct 24. Endocrine. 2017. PMID: 29067606

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