Leal GF - Search Results

1

Three additional cases of the Michels syndrome.

Leal GF, Baptista EV. Leal GF, et al. Am J Med Genet A. 2007 Nov 15;143A(22):2747-50. doi: 10.1002/ajmg.a.32029. Am J Med Genet A. 2007. PMID: 17937425 No abstract available.

2

Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

Leal GF, Silva EO, Duarte AR, Campos JF. Leal GF, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1059-62. doi: 10.1002/ajmg.a.32252. Am J Med Genet A. 2008. PMID: 18266249 No abstract available.

3

van den Ende-Gupta syndrome: evidence for genetic heterogeneity.

Leal GF, Silva EO. Leal GF, et al. Am J Med Genet A. 2009 Jun;149A(6):1293-5. doi: 10.1002/ajmg.a.32871. Am J Med Genet A. 2009. PMID: 19449421

4

Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.

Silveira C, Leal GF, Cavalcanti DP. Silveira C, et al. Among authors: leal gf. Am J Med Genet A. 2016 Nov;170(11):3043-3047. doi: 10.1002/ajmg.a.37858. Epub 2016 Aug 2. Am J Med Genet A. 2016. PMID: 27481334 No abstract available.

5

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Jehee FS, Burin BA, Rocha KM, Zechi-Ceide R, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Jehee FS, et al. Among authors: leal gf. Am J Med Genet A. 2009 Jun;149A(6):1319-22. doi: 10.1002/ajmg.a.32849. Am J Med Genet A. 2009. PMID: 19449419 No abstract available.

6

10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly.

Oliveira D, Leal GF, Sertié AL, Caires LC Jr, Goulart E, Musso CM, Oliveira JRM, Krepischi ACV, Vianna-Morgante AM, Zatz M. Oliveira D, et al. Among authors: leal gf. J Med Genet. 2019 Aug;56(8):543-547. doi: 10.1136/jmedgenet-2018-105471. Epub 2018 Oct 9. J Med Genet. 2019. PMID: 30301738

7

Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.

Ferreira LD, Leal GF, de Oliveira JRM. Ferreira LD, et al. Among authors: leal gf. J Mol Neurosci. 2021 Dec;71(12):2482-2486. doi: 10.1007/s12031-021-01873-z. Epub 2021 Jul 14. J Mol Neurosci. 2021. PMID: 34259997

8

DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.

Guerra JVS, Oliveira-Santos J, Oliveira DF, Leal GF, Oliveira JRM, Costa SS, Krepischi ACV, Vianna-Morgante AM, Maschietto M. Guerra JVS, et al. Among authors: leal gf. Eur J Med Genet. 2020 Mar;63(3):103737. doi: 10.1016/j.ejmg.2019.103737. Epub 2019 Aug 13. Eur J Med Genet. 2020. PMID: 31419599

9

Poland anomaly with foot symbrachydactyly.

Silva EO, Leal GF, Carvalho VN. Silva EO, et al. Among authors: leal gf. Am J Med Genet. 2002 May 15;109(4):333-4. doi: 10.1002/ajmg.10377. Am J Med Genet. 2002. PMID: 11992491 No abstract available.

10

Identification of a de novo inv dup(X)(pter--> q22) by multicolor banding in a girl with Turner syndrome.

Burégio-Frota P, Valença L, Leal GF, Duarte AR, Bispo-Brito AV, Soares-Ventura EM, Marques-Salles TJ, Nogueira MT, Muniz MT, Silva ML, Hunstig F, Liehr T, Santos N. Burégio-Frota P, et al. Among authors: leal gf. Genet Mol Res. 2010 Apr 27;9(2):780-4. doi: 10.4238/vol9-2gmr777. Genet Mol Res. 2010. PMID: 20449811 Free article.

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