Carreira IM - Search Results

1

Recommendations for reporting results of diagnostic genomic testing.

Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovrecic L, Õunap K, Tabiner M, Treacy R, van Asperen CJ. Deans ZC, et al. Among authors: carreira im. Eur J Hum Genet. 2022 Sep;30(9):1011-1016. doi: 10.1038/s41431-022-01091-0. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361922 Free PMC article.

2

β Thalassemia major due to acquired uniparental disomy in a previously healthy adolescent.

Bento C, Maia TM, Milosevic JD, Carreira IM, Kralovics R, Ribeiro ML. Bento C, et al. Among authors: carreira im. Haematologica. 2013 Jan;98(1):e4-6. doi: 10.3324/haematol.2012.064097. Epub 2012 Aug 8. Haematologica. 2013. PMID: 22875618 Free PMC article. No abstract available.

3

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.

Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers HH, Silva E, Tommerup N, Tümer Z. Engenheiro E, et al. Clin Genet. 2007 Nov;72(5):464-70. doi: 10.1111/j.1399-0004.2007.00879.x. Epub 2007 Sep 10. Clin Genet. 2007. PMID: 17850355

4

Late-onset hyperpigmentation: a case with multi-systemic involvement and recombinant X chromosome.

Santiago F, Vieira R, Cordeiro M, Carreira I, Figueiredo A. Santiago F, et al. J Eur Acad Dermatol Venereol. 2010 Jan;24(1):84-5. doi: 10.1111/j.1468-3083.2009.03288.x. Epub 2009 Apr 29. J Eur Acad Dermatol Venereol. 2010. PMID: 19453799 No abstract available.

5

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Santos S, Marques V, Pires M, Silveira L, Oliveira H, Lança V, Brito D, Madeira H, Esteves JF, Freitas A, Carreira IM, Gaspar IM, Monteiro C, Fernandes AR. Santos S, et al. Among authors: carreira im. BMC Med Genet. 2012 Mar 19;13:17. doi: 10.1186/1471-2350-13-17. BMC Med Genet. 2012. PMID: 22429680 Free PMC article.

6

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries.

Liehr T, Carreira IM, Balogh Z, Garrido ED, Verdorfer I, Coviello DA, Florentin L, Scheffer H, Rincic M, Williams HE. Liehr T, et al. Among authors: carreira im. Eur J Hum Genet. 2019 Aug;27(8):1168-1174. doi: 10.1038/s41431-019-0379-4. Epub 2019 Mar 28. Eur J Hum Genet. 2019. PMID: 30923334 Free PMC article.

7

Regulatory landscape of providing information on newborn screening to parents across Europe.

Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, Knapková M, la Marca G, Malniece I, Nanu MI, Nennstiel U, Olkhovych N, Oltarzewski M, Pettersen RD, Racz G, Reinson K, Salimbayeva D, Songailiene J, Vilarinho L, Vogazianos M, Zetterström RH, Zeyda M; Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee. Franková V, et al. Eur J Hum Genet. 2021 Jan;29(1):67-78. doi: 10.1038/s41431-020-00716-6. Epub 2020 Oct 10. Eur J Hum Genet. 2021. PMID: 33040093 Free PMC article.

8

European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M. Liehr T, et al. Among authors: carreira im. Eur J Hum Genet. 2017 May;25(5):515-519. doi: 10.1038/ejhg.2017.25. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272535 Free PMC article.

9

(Cyto)genomic and epigenetic characterization of BICR 10 cell line and three new established primary human head and neck squamous cell carcinoma cultures.

Ribeiro IP, Rodrigues JM, Mascarenhas A, Marques V, Caramelo F, Julião MJ, Liehr T, Melo JB, Carreira IM. Ribeiro IP, et al. Among authors: carreira im. Genes Genomics. 2019 Oct;41(10):1207-1221. doi: 10.1007/s13258-019-00850-6. Epub 2019 Jul 18. Genes Genomics. 2019. PMID: 31321735

10

Development of a genomic predictive model for cholangiocarcinoma using copy number alteration data.

Tavares I, Martins R, Ribeiro IP, Esteves L, Caramelo F, Abrantes AM, Neves R, Caetano-Oliveira R, Botelho MF, Barbosa de Melo J, Diogo D, Tralhão JG, Carreira IM. Tavares I, et al. Among authors: carreira im. J Clin Pathol. 2022 Apr;75(4):274-278. doi: 10.1136/jclinpath-2020-207346. Epub 2021 Mar 1. J Clin Pathol. 2022. PMID: 33649143

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