Fiegenbaum M - Search Results

1

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.

Deconte D, Correia EPE, Haubert G, de Souza V, Correia JD, Maahs MAP, Zen PRG, Fiegenbaum M, Rosa RFM. Deconte D, et al. Among authors: fiegenbaum m. J Pediatr Genet. 2021 Mar;10(1):63-69. doi: 10.1055/s-0040-1705095. Epub 2020 Feb 28. J Pediatr Genet. 2021. PMID: 33552642 Free PMC article.

2

Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.

Deconte D, Kreusch TC, Salvaro BP, Perin WF, Ferreira MAT, Kopacek C, da Rosa EB, Heringer JI, Ligabue-Braun R, Zen PRG, Rosa RFM, Fiegenbaum M. Deconte D, et al. Among authors: fiegenbaum m. J Pediatr Genet. 2020 Dec;9(4):263-269. doi: 10.1055/s-0039-3401831. Epub 2020 Jan 6. J Pediatr Genet. 2020. PMID: 32765931 Free PMC article.

3

Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant.

da Costa Almeida CB, Welter AT, Abech GD, Brandão GR, Flores JAM, Schüle B, Francke U, Fiegenbaum M, Zen PRG, Rosa RFM. da Costa Almeida CB, et al. Among authors: fiegenbaum m. J Pediatr Genet. 2020 Mar;9(1):58-62. doi: 10.1055/s-0039-1696636. Epub 2019 Sep 3. J Pediatr Genet. 2020. PMID: 31976146 Free PMC article.

4

Role of hypocalcemia in identification of 22q11 deletion syndrome among patients with congenital heart defects.

de Mattos VF, Sulczinski LP, Milner OG, da Silva FA, de Moraes SA, Trevisan P, Fiegenbaum M, Varella-Garcia M, Zen PR, Rosa RF. de Mattos VF, et al. Among authors: fiegenbaum m. Int J Cardiol. 2014 Nov 15;177(1):6-7. doi: 10.1016/j.ijcard.2014.09.133. Epub 2014 Oct 5. Int J Cardiol. 2014. PMID: 25499322 No abstract available.

5

Birth weight, length and head circumference: Progression and impact over the outcome of patients with congenital heart disease.

Silveira DB, da Rosa EB, Correia JD, Trevisan P, Fiegenbaum M, Oliveira CA, Grapiglia CG, Nunes MR, Rosa RCM, Zen TD, Zen PRG, Rosa RFM. Silveira DB, et al. Among authors: fiegenbaum m. Int J Cardiol. 2017 Sep 15;243:194-196. doi: 10.1016/j.ijcard.2017.05.078. Epub 2017 May 18. Int J Cardiol. 2017. PMID: 28539208

6

Incontinentia pigmenti.

Poziomczyk CS, Recuero JK, Bringhenti L, Maria FD, Campos CW, Travi GM, Freitas AM, Maahs MA, Zen PR, Fiegenbaum M, Almeida ST, Bonamigo RR, Bau AE. Poziomczyk CS, et al. Among authors: fiegenbaum m. An Bras Dermatol. 2014 Jan-Feb;89(1):26-36. doi: 10.1590/abd1806-4841.20142584. An Bras Dermatol. 2014. PMID: 24626645 Free PMC article. Review.

7

Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation.

de Almeida IG Jr, Kuratani DK, Gomes LM, Fiegenbaum M, Estima Correia EP, Gazzola Zen PR, Machado Rosa RF. de Almeida IG Jr, et al. Among authors: fiegenbaum m. Eur J Med Genet. 2020 Feb;63(2):103641. doi: 10.1016/j.ejmg.2019.03.005. Epub 2019 Mar 17. Eur J Med Genet. 2020. PMID: 30894326

8

Influence of FTO (Fat mass and obesity) gene and parental obesity on Brazilian children and adolescents adiposity.

Todendi PF, Martínez JA, Reuter CP, Klinger EI, Fiegenbaum M, Rosane de Moura Valim A. Todendi PF, et al. Among authors: fiegenbaum m. J Pediatr Endocrinol Metab. 2020 Jul 22:/j/jpem.ahead-of-print/jpem-2019-0594/jpem-2019-0594.xml. doi: 10.1515/jpem-2019-0594. Online ahead of print. J Pediatr Endocrinol Metab. 2020. PMID: 32697757

9

Gene expression evaluation of antioxidant enzymes in patients with hepatocellular carcinoma: RT-qPCR and bioinformatic analyses.

Alves AF, Moura AC, Andreolla HF, Veiga ABGD, Fiegenbaum M, Giovenardi M, Almeida S. Alves AF, et al. Among authors: fiegenbaum m. Genet Mol Biol. 2021 Apr 2;44(2):e20190373. doi: 10.1590/1678-4685-GMB-2019-0373. eCollection 2021. Genet Mol Biol. 2021. PMID: 33821873 Free PMC article.

10

Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects.

Trevisan P, Barbosa S, Sperotto G, Costi C, de Omena Filho RL, Silva AP, Varella-Garcia M, Fiegenbaum M, Rosa RF, Zen PR. Trevisan P, et al. Among authors: fiegenbaum m. Am J Med Genet A. 2015 Jun;167(6):1406-8. doi: 10.1002/ajmg.a.36531. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899105 No abstract available.

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