Carreira IM - Search Results

1

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CV, Marques W Jr, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N. Rasmussen MB, et al. Among authors: carreira im. J Med Genet. 2014 Sep;51(9):605-13. doi: 10.1136/jmedgenet-2014-102535. Epub 2014 Jul 25. J Med Genet. 2014. PMID: 25062845

2

Two new cases of de novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis.

Jardim A, Melo JB, Matoso E, Pires LM, Ramos L, Carreira IM. Jardim A, et al. Among authors: carreira im. Prenat Diagn. 2007 Apr;27(4):380-1. doi: 10.1002/pd.1650. Prenat Diagn. 2007. PMID: 17393554 Free article. No abstract available.

3

Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

Carreira IM, Mascarenhas A, Matoso E, Couceiro AB, Ramos L, Dufke A, Mazauric M, Stressig R, Kosyakova N, Melo JB, Liehr T. Carreira IM, et al. J Histochem Cytochem. 2007 Nov;55(11):1123-8. doi: 10.1369/jhc.7A7244.2007. Epub 2007 Jun 26. J Histochem Cytochem. 2007. PMID: 17595336 Free PMC article.

4

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

5

Mowat-Wilson syndrome: an underdiagnosed syndrome?

Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Engenheiro E, et al. Among authors: carreira im. Clin Genet. 2008 Jun;73(6):579-84. doi: 10.1111/j.1399-0004.2008.00997.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445050

6

First prenatally detected small supernumerary neocentromeric derivative chromosome 13 resulting in a non-mosaic partial tetrasomy 13q.

Mascarenhas A, Matoso E, Saraiva J, Tönnies H, Gerlach A, Julião MJ, Melo JB, Carreira IM. Mascarenhas A, et al. Among authors: carreira im. Cytogenet Genome Res. 2008;121(3-4):293-7. doi: 10.1159/000138901. Epub 2008 Aug 29. Cytogenet Genome Res. 2008. PMID: 18758175

7

Analytical approaches toward successful human cell metabolome studies by NMR spectroscopy.

Duarte IF, Marques J, Ladeirinha AF, Rocha C, Lamego I, Calheiros R, Silva TM, Marques MP, Melo JB, Carreira IM, Gil AM. Duarte IF, et al. Among authors: carreira im. Anal Chem. 2009 Jun 15;81(12):5023-32. doi: 10.1021/ac900545q. Anal Chem. 2009. PMID: 19462963 Free article.

8

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

Carreira IM, Melo JB, Rodrigues C, Backx L, Vermeesch J, Weise A, Kosyakova N, Oliveira G, Matoso E. Carreira IM, et al. Mol Cytogenet. 2009 Aug 4;2:16. doi: 10.1186/1755-8166-2-16. Mol Cytogenet. 2009. PMID: 19653912 Free PMC article.

9

Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM. Melo JB, et al. Among authors: carreira im. Cytogenet Genome Res. 2009;125(2):109-14. doi: 10.1159/000227834. Epub 2009 Aug 31. Cytogenet Genome Res. 2009. PMID: 19729913

10

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.

Ferreira SI, Matoso E, Pinto M, Almeida J, Liehr T, Melo JB, Carreira IM. Ferreira SI, et al. Among authors: carreira im. Mol Cytogenet. 2010 Jul 20;3:14. doi: 10.1186/1755-8166-3-14. Mol Cytogenet. 2010. PMID: 20646274 Free PMC article.

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