Saraiva J - Search Results

1

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: saraiva j. Mol Cytogenet. 2012 May 2;5(1):25. doi: 10.1186/1755-8166-5-25. Mol Cytogenet. 2012. PMID: 22550961 Free PMC article.

2

Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome.

Saraiva JM, Matoso E, Marques I. Saraiva JM, et al. J Med Genet. 1998 Apr;35(4):347-8. doi: 10.1136/jmg.35.4.347-a. J Med Genet. 1998. PMID: 9598739 Free PMC article. No abstract available.

3

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: saraiva j. J Autism Dev Disord. 2003 Apr;33(2):177-85. doi: 10.1023/a:1022943627660. J Autism Dev Disord. 2003. PMID: 12757357

4

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement.

Pires A, Ramos L, Venâncio M, Rei AI, Castedo S, Saraiva J. Pires A, et al. Among authors: saraiva j. Prenat Diagn. 2005 Apr;25(4):292-5. doi: 10.1002/pd.1105. Prenat Diagn. 2005. PMID: 15849779

5

An explanation for another familial case of Rett syndrome: maternal germline mosaicism.

Venâncio M, Santos M, Pereira SA, Maciel P, Saraiva JM. Venâncio M, et al. Eur J Hum Genet. 2007 Aug;15(8):902-4. doi: 10.1038/sj.ejhg.5201835. Epub 2007 Apr 18. Eur J Hum Genet. 2007. PMID: 17440498

6

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. Among authors: saraiva j. 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

7

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

8

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.

Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Lévy N, Carreira IM, Couceiro AB, Saraiva JM. Sousa SB, et al. Among authors: saraiva jm. Am J Med Genet A. 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489. Am J Med Genet A. 2008. PMID: 18837045 Free article. Review.

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

10

Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007.

Ramos F, Maia S, Branco M, Raposo J, Sá J, Sousa S, Venâncio M, Pina R, Galhano E, Ramos L, Saraiva J. Ramos F, et al. Among authors: saraiva j. ISRN Obstet Gynecol. 2011;2011:458120. doi: 10.5402/2011/458120. Epub 2010 Nov 8. ISRN Obstet Gynecol. 2011. PMID: 21637361 Free PMC article.

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