Schuler-Faccini L - 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

Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.

Brandalize AP, Bandinelli E, dos Santos PA, Roisenberg I, Schüler-Faccini L. Brandalize AP, et al. Am J Med Genet A. 2009 Oct;149A(10):2080-7. doi: 10.1002/ajmg.a.32989. Am J Med Genet A. 2009. PMID: 19725133

3

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

Fernandes-Lima ZS, Paixão-Côrtes VR, Andrade AK, Fernandes AS, Coronado BN, Monte Filho HP, Santos MJ, Omena Filho RL, Biondi FC, Ruiz-Linares A, Ramallo V, Hünemeier T, Schuler-Faccini L, Monlleó IL. Fernandes-Lima ZS, et al. Clin Genet. 2015;87(1):68-73. doi: 10.1111/cge.12329. Epub 2014 Jan 16. Clin Genet. 2015. PMID: 24266705

4

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.

5

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.

6

Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder.

Magalhães OA, Kowalski TW, Wachholz GE, Schuler-Faccini L. Magalhães OA, et al. Arq Bras Oftalmol. 2019 Aug 29;82(6):453-459. doi: 10.5935/0004-2749.20190087. eCollection 2019. Arq Bras Oftalmol. 2019. PMID: 31482965 Free article.

7

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. 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.

8

Fetal Alcohol Spectrum Disorders: Health Needs Assessment in Brazil.

Rocha AG, de Souza PRA, Wachholz GE, Fraga LR, Sanseverino MTV, Terra AP, da Silva AA, Vianna FSL, Abeche AM, Larrandaburu M, Del Campo M, Schuler-Faccini L. Rocha AG, et al. Alcohol Clin Exp Res. 2020 Mar;44(3):660-668. doi: 10.1111/acer.14294. Epub 2020 Feb 25. Alcohol Clin Exp Res. 2020. PMID: 31984499

9

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.

10

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.

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