Fortuna AM - Search Results

1

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.

Jorge P, Mota-Freitas MM, Santos R, Silva ML, Soares G, Fortuna AM. Jorge P, et al. Among authors: fortuna am. J Clin Med. 2014 Jul 24;3(3):838-48. doi: 10.3390/jcm3030838. J Clin Med. 2014. PMID: 26237480 Free PMC article.

2

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E. Santos R, et al. J Hum Genet. 2010 Aug;55(8):546-9. doi: 10.1038/jhg.2010.60. Epub 2010 Jun 10. J Hum Genet. 2010. PMID: 20535123

3

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L. Barbosa M, et al. Among authors: fortuna am. Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13. Clin Genet. 2011. PMID: 21155763

4

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I. Seixas AI, et al. Among authors: fortuna am. Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19. Behav Brain Funct. 2011. PMID: 21639881 Free PMC article.

5

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M. Oliveira J, et al. Among authors: fortuna am. J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub 2015 Mar 5. J Hum Genet. 2015. PMID: 25740612

6

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Marques I, Sá MJ, Soares G, Mota Mdo C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, Leventer RJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P. Marques I, et al. Among authors: fortuna am. Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133. Epub 2015 Feb 25. Mol Genet Genomic Med. 2015. PMID: 26029707 Free PMC article.

7

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Maia N, Nabais Sá MJ, Tkachenko N, Soares G, Marques I, Rodrigues B, Fortuna AM, Santos R, de Brouwer APM, Jorge P. Maia N, et al. Among authors: fortuna am. Mol Syndromol. 2017 Dec;9(1):45-51. doi: 10.1159/000479177. Epub 2017 Aug 29. Mol Syndromol. 2017. PMID: 29456483 Free PMC article.

8

Genomic imbalances defining novel intellectual disability associated loci.

Lopes F, Torres F, Soares G, Barbosa M, Silva J, Duque F, Rocha M, Sá J, Oliveira G, Sá MJ, Temudo T, Sousa S, Marques C, Lopes S, Gomes C, Barros G, Jorge A, Rocha F, Martins C, Mesquita S, Loureiro S, Cardoso EM, Cálix MJ, Dias A, Martins C, Mota CR, Antunes D, Dupont J, Figueiredo S, Figueiroa S, Gama-de-Sousa S, Cruz S, Sampaio A, Eijk P, Weiss MM, Ylstra B, Rendeiro P, Tavares P, Reis-Lima M, Pinto-Basto J, Fortuna AM, Maciel P. Lopes F, et al. Among authors: fortuna am. Orphanet J Rare Dis. 2019 Jul 5;14(1):164. doi: 10.1186/s13023-019-1135-0. Orphanet J Rare Dis. 2019. PMID: 31277718 Free PMC article.

9

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases.

Soares AR, Soares G, Mota-Freitas M, Oliva-Teles N, Fortuna AM. Soares AR, et al. Among authors: fortuna am. Acta Med Port. 2019 Aug 1;32(7-8):529-535. doi: 10.20344/amp.11466. Epub 2019 Aug 1. Acta Med Port. 2019. PMID: 31445533 Free article.

10

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.

Maia N, Soares AR, Fortuna AM, Marques I, Gonçalves A, Santos R, Melo Pires M, de Brouwer APM, Jorge P. Maia N, et al. Among authors: fortuna am. Clin Case Rep. 2020 Jul 30;8(12):2476-2482. doi: 10.1002/ccr3.3146. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363762 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

88 results

Search Page