Mariath LM - Search Results

1

Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene.

Mariath LM, Silva AM, Kowalski TW, Gattino GS, Araujo GA, Figueiredo FG, Tagliani-Ribeiro A, Roman T, Vianna FSL, Schuler-Faccini L, Schuch JB. Mariath LM, et al. Genet Mol Biol. 2017 Apr-Jun;40(2):421-429. doi: 10.1590/1678-4685-GMB-2016-0021. Epub 2017 May 22. Genet Mol Biol. 2017. PMID: 28534928 Free PMC article.

2

A large family with CYLD cutaneous syndrome: medical genetics at the community level.

Arruda AP, Cardoso-Dos-Santos AC, Mariath LM, Feira MF, Kowalski TW, Bezerra KRF, da Silva LACT, Ribeiro EM, Schuler-Faccini L. Arruda AP, et al. Among authors: mariath lm. J Community Genet. 2020 Jul;11(3):279-284. doi: 10.1007/s12687-019-00447-2. Epub 2019 Dec 3. J Community Genet. 2020. PMID: 31792733 Free PMC article.

3

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Kiszewski AE, Schuler-Faccini L. Mariath LM, et al. Clin Genet. 2019 Sep;96(3):189-198. doi: 10.1111/cge.13555. Epub 2019 May 29. Clin Genet. 2019. PMID: 31001817 Review.

4

Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.

Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE. Mariath LM, et al. Clin Genet. 2020 Jul;98(1):99-101. doi: 10.1111/cge.13762. Epub 2020 May 7. Clin Genet. 2020. PMID: 32383240 No abstract available.

5

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE. Mariath LM, et al. Clin Genet. 2021 Jan;99(1):29-41. doi: 10.1111/cge.13792. Epub 2020 Jun 29. Clin Genet. 2021. PMID: 32506467 Review.

6

Transcriptome meta-analysis of valproic acid exposure in human embryonic stem cells.

Kowalski TW, Lord VO, Sgarioni E, Gomes JDA, Mariath LM, Recamonde-Mendoza M, Vianna FSL. Kowalski TW, et al. Among authors: mariath lm. Eur Neuropsychopharmacol. 2022 Jul;60:76-88. doi: 10.1016/j.euroneuro.2022.04.008. Epub 2022 May 27. Eur Neuropsychopharmacol. 2022. PMID: 35635998

7

Intrafamilial clinical variability in four families with incontinentia pigmenti.

Mariath LM, Santa Maria FD, Poziomczyk CS, Travi GM, Wachholz GE, De Souza SR, Kiszewski AE, Schuler-Faccini L. Mariath LM, et al. Am J Med Genet A. 2018 Nov;176(11):2318-2324. doi: 10.1002/ajmg.a.40497. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30151858

8

Inherited epidermolysis bullosa: update on the clinical and genetic aspects.

Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Mariath LM, et al. An Bras Dermatol. 2020 Sep-Oct;95(5):551-569. doi: 10.1016/j.abd.2020.05.001. Epub 2020 Jul 8. An Bras Dermatol. 2020. PMID: 32732072 Free PMC article. Review.

9

Prevalence and antimicrobial resistance profile of Staphylococcus aureus in inherited epidermolysis bullosa: a cross-sectional multicenter study in Brazil.

Santin JT, Mariath LM, Rossato AM, Schuler-Faccini L, Kiszewski AE. Santin JT, et al. Among authors: mariath lm. Int J Dermatol. 2021 Sep;60(9):1126-1130. doi: 10.1111/ijd.15634. Epub 2021 May 28. Int J Dermatol. 2021. PMID: 34047367

10

Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach.

Mariath LM, Kiszewski AE, Frantz JA, Siebert M, Matte U, Schuler-Faccini L. Mariath LM, et al. An Bras Dermatol. 2021 Mar-Apr;96(2):155-162. doi: 10.1016/j.abd.2020.05.015. Epub 2021 Feb 2. An Bras Dermatol. 2021. PMID: 33640189 Free PMC article.

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