Alves LU - Search Results

1

Novel frameshift variant in gene SALL4 causing Okihiro syndrome.

Alves LU, Perez AB, Alonso LG, Otto PA, Mingroni-Netto RC. Alves LU, et al. Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11. Eur J Med Genet. 2016. PMID: 26791099 Free article.

2

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

Alves LU, Pardono E, Otto PA, Mingroni Netto RC. Alves LU, et al. Genet Mol Biol. 2015 Mar;38(1):37-41. doi: 10.1590/S1415-475738120140125. Epub 2014 Mar 17. Genet Mol Biol. 2015. PMID: 25983622 Free PMC article.

3

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC. Bocángel MAP, et al. Among authors: alves lu. Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407415 Free article.

4

Santos syndrome is caused by mutation in the WNT7A gene.

Alves LU, Santos S, Musso CM, Ezquina SA, Opitz JM, Kok F, Otto PA, Mingroni-Netto RC. Alves LU, et al. J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31. J Hum Genet. 2017. PMID: 28855715

5

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Salazar-Silva R, Dantas VLG, Alves LU, Batissoco AC, Oiticica J, Lawrence EA, Kawafi A, Yang Y, Nicastro FS, Novaes BC, Hammond C, Kague E, Mingroni-Netto RC. Salazar-Silva R, et al. Among authors: alves lu. Hum Mol Genet. 2021 Jan 21;29(22):3691-3705. doi: 10.1093/hmg/ddaa240. Hum Mol Genet. 2021. PMID: 33326993 Free PMC article.

6

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.

Bueno AS, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, Smits J, Yntema HG, Meyer D, Lezirovitz K, Mingroni-Netto RC. Bueno AS, et al. Among authors: alves lu. Eur J Hum Genet. 2022 Jan;30(1):13-21. doi: 10.1038/s41431-021-00891-0. Epub 2021 May 6. Eur J Hum Genet. 2022. PMID: 33953343 Free PMC article.

7

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

Dantas VG, Freitas EL, Della-Rosa VA, Lezirovitz K, de Moraes AM, Ramos SB, Oiticica J, Alves LU, Pearson PL, Rosenberg C, Mingroni-Netto RC. Dantas VG, et al. Among authors: alves lu. Int J Audiol. 2015;54(9):593-8. doi: 10.3109/14992027.2015.1030511. Epub 2015 Apr 30. Int J Audiol. 2015. PMID: 25926005

8

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

Dantas VGL, Raval MH, Ballesteros A, Cui R, Gunther LK, Yamamoto GL, Alves LU, Bueno AS, Lezirovitz K, Pirana S, Mendes BCA, Yengo CM, Kachar B, Mingroni-Netto RC. Dantas VGL, et al. Among authors: alves lu. Sci Rep. 2018 Jun 7;8(1):8706. doi: 10.1038/s41598-018-26818-2. Sci Rep. 2018. PMID: 29880844 Free PMC article. Clinical Trial.

9

Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Salazar-Silva R, Dantas VLG, Alves LU, Batissoco AC, Oiticica J, Lawrence EA, Kawafi A, Yang Y, Nicastro FS, Novaes BC, Hammond C, Kague E, Mingroni-Netto RC. Salazar-Silva R, et al. Among authors: alves lu. Hum Mol Genet. 2021 Dec 17;31(1):156. doi: 10.1093/hmg/ddab325. Hum Mol Genet. 2021. PMID: 34788418 Free PMC article. No abstract available.

10

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.

Uehara DT, Freitas ÉL, Alves LU, Mazzeu JF, Auricchio MT, Tabith A Jr, Monteiro ML, Rosenberg C, Mingroni-Netto RC. Uehara DT, et al. Among authors: alves lu. Hum Genome Var. 2015 Oct 29;2:15038. doi: 10.1038/hgv.2015.38. eCollection 2015. Hum Genome Var. 2015. PMID: 27081546 Free PMC article.

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