Mazzeu JF - Search Results

1

Syndromes with gingival fibromatosis: A systematic review.

Costa CRR, Braz SV, de Toledo IP, Martelli-Júnior H, Mazzeu JF, Guerra ENS, Coletta RD, Acevedo AC. Costa CRR, et al. Among authors: mazzeu jf. Oral Dis. 2021 May;27(4):881-893. doi: 10.1111/odi.13369. Epub 2020 May 25. Oral Dis. 2021. PMID: 32335995 Review.

2

Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.

Yamaguti PM, dos Santos PA, Leal BS, Santana VB, Mazzeu JF, Acevedo AC, Neves Fde A. Yamaguti PM, et al. Among authors: mazzeu jf. BMC Nephrol. 2015 Jul 2;16:92. doi: 10.1186/s12882-015-0079-4. BMC Nephrol. 2015. PMID: 26136118 Free PMC article.

3

Protocols for Genetic and Epigenetic Studies of Rare Diseases Affecting Dental Tissues.

Amorim BR, Dos Santos PAC, de Lima CL, Andia DC, Mazzeu JF, Acevedo AC. Amorim BR, et al. Among authors: mazzeu jf. Methods Mol Biol. 2019;1922:453-492. doi: 10.1007/978-1-4939-9012-2_37. Methods Mol Biol. 2019. PMID: 30838595

4

Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.

Almeida FT, Leite AF, de Souza Figueiredo PT, Dos Santos PAC, Rosa ECCC, Mazzeu JF, Sousa JB, Pogue R, Acevedo AC, Guerra ENS. Almeida FT, et al. Among authors: mazzeu jf. Clin Oral Investig. 2020 Oct;24(10):3501-3511. doi: 10.1007/s00784-020-03220-9. Epub 2020 Feb 6. Clin Oral Investig. 2020. PMID: 32025882

5

Phenotypic dento-osseous characterization of a Brazilian family with Familial Adenomatous Polyposis.

Arruda KAR, Normando AGC, Pacheco-Pereira C, Amorim Dos Santos J, Yamaguti PM, Mazzeu JF, Almeida FT, Acevedo AC, Guerra ENS. Arruda KAR, et al. Among authors: mazzeu jf. Arch Oral Biol. 2021 Sep;129:105206. doi: 10.1016/j.archoralbio.2021.105206. Epub 2021 Jul 1. Arch Oral Biol. 2021. PMID: 34224960

6

Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant.

Braz SV, Benicio RA, Tonelli GSSS, Báo SN, Moretti PN, Pic-Taylor A, Oliveira SF, Acevedo AC, Costa IMC, Mazzeu JF. Braz SV, et al. Among authors: mazzeu jf. Clin Exp Dermatol. 2022 Apr;47(4):812-815. doi: 10.1111/ced.15046. Epub 2021 Dec 27. Clin Exp Dermatol. 2022. PMID: 34958133

7

Single nucleotide polymorphisms to predict acute radiation dermatitis in breast cancer patients: A systematic review and meta-analysis.

Aguiar BRL, Ferreira EB, Normando AGC, Mazzeu JF, Assad DX, Guerra ENS, Reis PEDD. Aguiar BRL, et al. Among authors: mazzeu jf. Crit Rev Oncol Hematol. 2022 May;173:103651. doi: 10.1016/j.critrevonc.2022.103651. Epub 2022 Mar 15. Crit Rev Oncol Hematol. 2022. PMID: 35301098 Review.

8

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.

Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VR. Shayota BJ, et al. Among authors: mazzeu jf. Am J Med Genet A. 2020 Nov;182(11):2632-2640. doi: 10.1002/ajmg.a.61843. Epub 2020 Sep 5. Am J Med Genet A. 2020. PMID: 32888393

9

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.

Schwartz DD, Fein RH, Carvalho CMB, Sutton VR, Mazzeu JF, Axelrad ME. Schwartz DD, et al. Among authors: mazzeu jf. Am J Med Genet A. 2021 Dec;185(12):3576-3583. doi: 10.1002/ajmg.a.61854. Epub 2020 Sep 21. Am J Med Genet A. 2021. PMID: 32954672

10

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. White JJ, et al. Among authors: mazzeu jf. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276006 Free PMC article.

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