Pires LM - Search Results

1

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

Matoso E, Ramos F, Ferrão J, Pires LM, Mascarenhas A, Melo JB, Carreira IM. Matoso E, et al. Among authors: pires lm. Mol Cytogenet. 2014 Dec 9;7(1):87. doi: 10.1186/s13039-014-0087-2. eCollection 2014. Mol Cytogenet. 2014. PMID: 25506393 Free PMC article.

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

3

Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event.

Ferreira SI, Pires LM, Ferrão J, Sá J, Serra A, Carreira IM. Ferreira SI, et al. Among authors: pires lm. Gene. 2013 Sep 15;527(1):421-5. doi: 10.1016/j.gene.2013.05.079. Epub 2013 Jun 20. Gene. 2013. PMID: 23792063

4

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.

Pires R, Pires LM, Vaz SO, Maciel P, Anjos R, Moniz R, Branco CC, Cabral R, Carreira IM, Mota-Vieira L. Pires R, et al. Among authors: pires lm. BMC Genet. 2014 Nov 7;15:115. doi: 10.1186/s12863-014-0115-6. BMC Genet. 2014. PMID: 25376777 Free PMC article.

5

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M. Beleza-Meireles A, et al. Among authors: pires lm. Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20. Eur J Med Genet. 2015. PMID: 26206081

6

A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.

Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P, Mota-Vieira L. Vaz SO, et al. Among authors: pires lm, pires r. BMC Pediatr. 2015 Aug 22;15:95. doi: 10.1186/s12887-015-0417-5. BMC Pediatr. 2015. PMID: 26297018 Free PMC article.

7

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Carreira IM, Ferreira SI, Matoso E, Pires LM, Ferrão J, Jardim A, Mascarenhas A, Pinto M, Lavoura N, Pais C, Paiva P, Simões L, Caramelo F, Ramos L, Venâncio M, Ramos F, Beleza A, Sá J, Saraiva J, de Melo JB. Carreira IM, et al. Among authors: pires lm. Mol Cytogenet. 2015 Dec 30;8:103. doi: 10.1186/s13039-015-0202-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 26719768 Free PMC article.

8

MLPA analysis in a cohort of patients with autism.

Peixoto S, Melo JB, Ferrão J, Pires LM, Lavoura N, Pinto M, Oliveira G, Carreira IM. Peixoto S, et al. Among authors: pires lm. Mol Cytogenet. 2017 Feb 4;10:2. doi: 10.1186/s13039-017-0302-z. eCollection 2017. Mol Cytogenet. 2017. PMID: 28174603 Free PMC article.

9

Tremor is a major feature of 9p13 deletion syndrome.

Ferreira SI, Cinnirella G, Ramos L, Suppa A, Pires LM, Nardone AM, Camerota L, Lanciotti S, Galasso C, De Maio F, de Melo JB, Carreira IM, Brancati F. Ferreira SI, et al. Among authors: pires lm. Am J Med Genet A. 2020 Nov;182(11):2694-2698. doi: 10.1002/ajmg.a.61807. Epub 2020 Sep 8. Am J Med Genet A. 2020. PMID: 32896075

10

Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.

Jesus-Ribeiro J, Pires LM, Melo JD, Ribeiro IP, Rebelo O, Sales F, Freire A, Melo JB. Jesus-Ribeiro J, et al. Among authors: pires lm. Front Neurosci. 2021 Jan 22;14:580357. doi: 10.3389/fnins.2020.580357. eCollection 2020. Front Neurosci. 2021. PMID: 33551717 Free PMC article. Review.

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