Matoso E - Search Results

1

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: matoso e. Cytogenet Genome Res. 2009;125(2):109-14. doi: 10.1159/000227834. Epub 2009 Aug 31. Cytogenet Genome Res. 2009. PMID: 19729913

2

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: matoso e. Cytogenet Genome Res. 2008;121(3-4):293-7. doi: 10.1159/000138901. Epub 2008 Aug 29. Cytogenet Genome Res. 2008. PMID: 18758175

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. Among authors: matoso e. 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

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. Among authors: matoso e. Mol Cytogenet. 2009 Aug 4;2:16. doi: 10.1186/1755-8166-2-16. Mol Cytogenet. 2009. PMID: 19653912 Free PMC article.

5

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: matoso e. Mol Cytogenet. 2010 Jul 20;3:14. doi: 10.1186/1755-8166-3-14. Mol Cytogenet. 2010. PMID: 20646274 Free PMC article.

6

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

Matoso E, Melo JB, Ferreira SI, Jardim A, Castelo TM, Weise A, Carreira IM. Matoso E, et al. Am J Med Genet A. 2013 Aug;161A(8):1923-8. doi: 10.1002/ajmg.a.36032. Epub 2013 Jul 4. Am J Med Genet A. 2013. PMID: 23824631

7

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: matoso e. Prenat Diagn. 2007 Apr;27(4):380-1. doi: 10.1002/pd.1650. Prenat Diagn. 2007. PMID: 17393554 Free article. No abstract available.

8

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism.

Oliveira G, Matoso E, Vicente A, Ribeiro P, Marques C, Ataíde A, Miguel T, Saraiva J, Carreira I. Oliveira G, et al. Among authors: matoso e. J Autism Dev Disord. 2003 Apr;33(2):177-85. doi: 10.1023/a:1022943627660. J Autism Dev Disord. 2003. PMID: 12757357

9

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.

Ferreira SI, Matoso E, Venâncio M, Saraiva J, Melo JB, Carreira IM. Ferreira SI, et al. Among authors: matoso e. Mol Cytogenet. 2012 May 2;5(1):25. doi: 10.1186/1755-8166-5-25. Mol Cytogenet. 2012. PMID: 22550961 Free PMC article.

10

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.

Beleza-Meireles A, Matoso E, Ramos L, Melo JB, Carreira IM, Silva ED, Saraiva JM. Beleza-Meireles A, et al. Among authors: matoso e. Am J Med Genet A. 2013 Mar;161A(3):589-93. doi: 10.1002/ajmg.a.35713. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401163

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