Mariath LM - Search Results

1

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

2

Dental anomalies in 14 patients with IP: clinical and radiological analysis and review.

Santa-Maria FD, Mariath LM, Poziomczyk CS, Maahs MAP, Rosa RFM, Zen PRG, Schüller-Faccini L, Kiszewski AE. Santa-Maria FD, et al. Among authors: mariath lm. Clin Oral Investig. 2017 Jun;21(5):1845-1852. doi: 10.1007/s00784-016-1977-y. Epub 2016 Oct 20. Clin Oral Investig. 2017. PMID: 27766487

3

Development of dentofacial characteristics related to Incontinentia Pigmenti syndrome: A repeated cross-sectional study.

Santa Maria FD, Barros SE, Chiqueto K, Mariath LM, Schüler-Faccini L, Kiszewski AE. Santa Maria FD, et al. Among authors: mariath lm. Am J Orthod Dentofacial Orthop. 2021 Jul;160(1):66-76. doi: 10.1016/j.ajodo.2020.03.033. Epub 2021 Apr 24. Am J Orthod Dentofacial Orthop. 2021. PMID: 33906773

4

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.

5

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.

6

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.

7

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

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

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.

10

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.

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