Publications by authors named "Ana Maria Fortuna"

18Publications

Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning Gene Pleiotropy.

Eur Endocrinol 2020 Apr 4;16(1):66-68. Epub 2020 Feb 4.

Paediatric Endocrinology Unit, Northern Maternal and Child Centre, Porto University Hospital Centre, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17925/EE.2020.16.1.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7308104PMC
April 2020

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

Acta Med Port 2019 Aug 1;32(7-8):529-535. Epub 2019 Aug 1.

Unidade de Genética Médica. Centro de Genética Médica Jacinto Magalhães. Centro Hospitalar Universitário do Porto. Porto. Unidade de Citogenética. Centro de Genética Médica Jacinto Magalhães. Centro Hospitalar Universitário do Porto. Porto. Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.20344/amp.11466DOI Listing
August 2019

The contribution of 7q33 copy number variations for intellectual disability.

Neurogenetics 2018 01 19;19(1):27-40. Epub 2017 Dec 19.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-017-0533-5DOI Listing
January 2018

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

J Bone Miner Res 2016 Apr 24;31(4):874-81. Epub 2016 Jan 24.

Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2782DOI Listing
April 2016

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.

JIMD Rep 2016 25;26:53-60. Epub 2015 Aug 25.

Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2015_487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864718PMC
May 2016

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

Mol Genet Genomic Med 2015 May 25;3(3):203-14. Epub 2015 Feb 25.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162PMC
May 2015

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

J Hum Genet 2015 Jun 5;60(6):305-12. Epub 2015 Mar 5.

1] Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [2] Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [3] Centro de Genética da Reprodução Professor Alberto Barros, Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.20DOI Listing
June 2015

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

J Clin Med 2014 Jul 24;3(3):838-48. Epub 2014 Jul 24.

Center of Medical Genetics Doutor Jacinto Magalhães, Oporto Hospital Center, C.H.P., EPE, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm3030838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449647PMC
July 2014

Exhaled nitric oxide fraction as an add-on to ACQ-7 for not well controlled asthma detection.

PLoS One 2013 25;8(10):e77085. Epub 2013 Oct 25.

Servicio de Neumología, Hospital de la Santa Creu i Sant Pau, Institut d'Investigació Biomédica Sant Pau (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona Respiratory Network (BRN), Barcelona, Spain.

View Article

Download full-text PDF

Source
http://brn.cat/wp-content/uploads/2014/02/PLoS-ONE-2013-810-
Web Search
http://dx.plos.org/10.1371/journal.pone.0077085
Publisher Site
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0077085PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808365PMC
August 2014

[Determining the alveolar component of nitric oxide in exhaled air: procedures and reference values for healthy persons].

Arch Bronconeumol 2009 Mar 14;45(3):145-9. Epub 2009 Feb 14.

Unidad de Función Pulmonar, Departamento de Neumología, Hospital de la Santa Creu i Sant Pau, Facultad de Medicina, Universidad Autónoma de Barcelona, Barcelona, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.arbres.2008.05.005DOI Listing
March 2009

Diagnostic utility of inflammatory biomarkers in asthma: exhaled nitric oxide and induced sputum eosinophil count.

Respir Med 2007 Nov 21;101(11):2416-21. Epub 2007 Aug 21.

Department of Pulmonary Function, Hospital de la Santa Creu i Sant Pau, Sant Antoni Maria Claret, 167, Barcelona 08025, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmed.2007.05.019DOI Listing
November 2007

[Measurement of fraction of exhaled nitric oxide with the portable NIOX-MINO monitor in healthy adults].

Arch Bronconeumol 2007 Mar;43(3):176-9

Unidad de Función Pulmonar, Departamento de Neumología, Hospital de la Santa Creu i Sant Pau, Facultad de Medicina, Universidad Autónoma de Barcelona, Barcelona, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1579-2129(07)60044-5DOI Listing
March 2007