Vargas F - Search Results

1

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Vargas F, Scherer SW, Tsui LC, Muenke M. Roessler E, et al. Among authors: vargas f. Hum Mol Genet. 1997 Oct;6(11):1847-53. doi: 10.1093/hmg/6.11.1847. Hum Mol Genet. 1997. PMID: 9302262

2

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.

Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M. Vargas FR, et al. Hum Genet. 1998 Apr;102(4):387-92. doi: 10.1007/s004390050709. Hum Genet. 1998. PMID: 9600232 Review.

3

Phylogenetic footprinting reveals extensive conservation of Sonic Hedgehog (SHH) regulatory elements.

Lemos B, Yunes JA, Vargas FR, Moreira MA, Cardoso AA, Seuánez HN. Lemos B, et al. Genomics. 2004 Sep;84(3):511-23. doi: 10.1016/j.ygeno.2004.05.009. Genomics. 2004. PMID: 15498458

4

Molecular analysis of holoprosencephaly in South America.

Savastano CP, El-Jaick KB, Costa-Lima MA, Abath CM, Bianca S, Cavalcanti DP, Félix TM, Scarano G, Llerena JC Jr, Vargas FR, Moreira MÂ, Seuánez HN, Castilla EE, Orioli IM. Savastano CP, et al. Genet Mol Biol. 2014 Mar;37(1 Suppl):250-62. doi: 10.1590/s1415-47572014000200011. Genet Mol Biol. 2014. PMID: 24764759 Free PMC article.

5

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. Wieczorek D, et al. Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142. Hum Mutat. 2010. PMID: 19847792

6

A molecular study of first and second RB1 mutational hits in retinoblastoma patients.

de Andrade AF, da Hora Barbosa R, Vargas FR, Ferman S, Eisenberg AL, Fernandes L, Bonvicino CR. de Andrade AF, et al. Cancer Genet Cytogenet. 2006 May;167(1):43-6. doi: 10.1016/j.cancergencyto.2005.08.017. Cancer Genet Cytogenet. 2006. PMID: 16682285

7

More epigenetic hits than meets the eye: microRNAs and genes associated with the tumorigenesis of retinoblastoma.

Reis AH, Vargas FR, Lemos B. Reis AH, et al. Front Genet. 2012 Dec 7;3:284. doi: 10.3389/fgene.2012.00284. eCollection 2012. Front Genet. 2012. PMID: 23233862 Free PMC article.

8

Influence of estrogen and variations at the BRCA1 promoter region on transcription and translation.

Fernandes LR, Costa EC, Vargas FR, Moreira MA. Fernandes LR, et al. Mol Biol Rep. 2014 Jan;41(1):489-95. doi: 10.1007/s11033-013-2884-9. Epub 2013 Dec 1. Mol Biol Rep. 2014. PMID: 24293149

9

Biomarkers of genome instability and cancer epigenetics.

Reis AH, Vargas FR, Lemos B. Reis AH, et al. Tumour Biol. 2016 Oct;37(10):13029-13038. doi: 10.1007/s13277-016-5278-5. Epub 2016 Jul 28. Tumour Biol. 2016. PMID: 27468720 Review.

10

Hereditary retinoblastoma transmitted by maternal germline mosaicism.

Barbosa RH, Vargas FR, Aguiar FC, Ferman S, Lucena E, Bonvicino CR, Seuánez HN. Barbosa RH, et al. Pediatr Blood Cancer. 2008 Nov;51(5):598-602. doi: 10.1002/pbc.21687. Pediatr Blood Cancer. 2008. PMID: 18661485

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