Publicações Selecionadas

  • Paneque M, Serra-Juhé C, Pestoff R, Cordier C, Silva J, Moldovan R, Involdstad Ch. Complementariness between medical geneticists and genetic counsellors: its added value in genetic services in Europe. European Journal of Human Genetics (2017), 1–6. doi:10.1038/ejhg.2017.76 
  • Paneque M, Cornel MC, Curtis V, Houwink E, Jackson L, Kent A, Lunt P, Macek M, Stefansdottir V, Turchetti D, Skirton H. Implementing genetic education in primary care: the Gen-Equip programme. Journal of Community Genetics 2017 Apr; 8(2): 147–150
  • Magalhães S, Paneque M, Silva J. Genetics on Primary Healthcare: A Multidisciplinary Perspective. Acta Med Port 2016 Oct;29(10):581-582

  • Paneque M, Mendes A, Saraiva J, Sequeiros J (2015).Genetic Counseling in Portugal: Education, Practice and a Developing Profession. J Genet Counsel 24:548-552
  • Paneque M, Mendes A, Guimarães L, Sequeiros J, Skirton H (2015). Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools. J Genet Counsel 24:616-625

     
  • Leandro B, Paneque M, Sequeiros J, Porto G (2014). Insufficient referral for genetic counseling in the management of Hereditary Haemochromatosis in Portugal: A study of perceptions of health professionals requesting HFE genotyping. J Genet Couns 23:770-777
  • Schuler-Faccini L, Osorio CM, Romariz F, Paneque M, Sequeiros J, Jardim L(2014). Genetic cunseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal. Genet Mol Biol 37(suppl 1):263-270

  • Ana Luísa Sousa, Isabel Alonso, Marina Magalhães: A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. , 2017 May 12
    https://www.ncbi.nlm.nih.gov/pubmed/28500446
  • Joana Pimenta, Carmen Costa, Isabel Alonso, Ana Filipa Brandão, Jorge Sequeiros, Luís Negrão and Isabel Fineza: Autosomal recessive spastic ataxia of Charlevoix-Saguenayin a Portuguese child caused by a novel SACS mutation. Pediatric Dimensions, Volume 2(1): 1-4, 2017
    https://oatext.com/Autosomal-recessive-spastic-ataxia-of-Charlevoix-Saguenay-in-a-Portuguese-child-caused-by-a-novel-SACS-mutation.php
  • Paucar M, Alonso I, Eriksson M, Beniaminov S, Coutinho P, Svenningsson P: Novel APTX mutation in a Hispanic subject affected by ataxia with oculomotor apraxia type 1. Movement Disorders Clinical Practice 2:90-92, 2015
    http://www.movementdisorders.org/MDS/Journals/Clinical-Practice-E-Journal-Overview/Movement-Disorders-Clinical-Practice-Vol.-2-Issue-1/Novel-APTX-Mutation-Hispanic-Subject.htm
  • Ramos EM, Gillis T, Mysore JS, Lee JM, Alonso I, Gusella JF, Smoller JW, Sklar P, MacDonald ME, Perlis RH: Prevalence of Huntington’s disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Bipolar Disord

    http://onlinelibrary.wiley.com/enhanced/doi/10.1111/bdi.12289/
  • Ramos EM, Kovalenko M, Guide JR, St. Claire J, Gillis T, Mysore JS, Sequeiros J, Wheeler V, Alonso I, MacDonald ME: Chromosome substitution strain assessment of a Huntington’s disease modifier locus. Mamm Genome

    http://www.ncbi.nlm.nih.gov/pubmed/25645993
  • Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D’Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I: Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington’s disease. Am J Med Genet B Neuropsychiatr Genet 168:135-43, 2015

    http://www.ncbi.nlm.nih.gov/pubmed/25656686
  • Menezes Cordeiro I, Nzwalo H, Sá F, Bastos Ferreira R, Alonso I, Afonso L, Basílio C: Shifting the CARASIL paradigm: report of a non-Asian family and literature review.  Stroke 2015  
    http://www.ncbi.nlm.nih.gov/pubmed/25712943
  • Moreira I, Bastos-Ferreira R, Silva J, Ribeiro C, Alonso I, Chaves J: Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. Seizure 25: 62–64, 2015 

    http://www.ncbi.nlm.nih.gov/pubmed/25645638
  • Ogun SA, Martins S, Adebayo PB, Dawodu CO, Sequeiros J, Finkel MF. Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. Eur J Hum Genet 23:271-3, 2015

    http://www.ncbi.nlm.nih.gov/pubmed/24781759
  • Paneque M, Mendes Á, Saraiva J, Sequeiros J. Genetic Counseling in Portugal: Education, Practice and a Developing Profession. J Genet Couns DOI: 10.1007/s10897-015-9827-7  
    http://www.ncbi.nlm.nih.gov/pubmed/25727922
  • Paneque M, Sequeiros J, Skirton H. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study. Eur J Hum Genet

    http://www.ncbi.nlm.nih.gov/pubmed/25689925
  • Paneque M, Mendes A, Guimarães L, Sequeiros J, Skirton H. Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools. J Genet Couns  


    http://www.ncbi.nlm.nih.gov/pubmed/25363284
  • Rodrigues F, Paneque M, Reis C, Venâncio M, Sequeiros J, Saraiva J. Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents' beliefs about the cause of their children' deafness. J Genet Couns. 2013 Aug;22(4):448-54  
    http://www.ncbi.nlm.nih.gov/pubmed/23355074
  • Guimarães L, Sequeiros J, Skirton H, Paneque M. What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand' perspective. J Genet Couns. 2013 Aug;22(4):437-47  
    http://www.ncbi.nlm.nih.gov/pubmed/23292684
  • Barros J, Damásio J, Tuna A, Alves I, Silveira I, Pereira-Monteiro J, Sequeiros J, Alonso I, Sousa A, Coutinho P. Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family. JAMA Neurol. 2013 Feb;70(2):235-40  
    http://www.ncbi.nlm.nih.gov/pubmed/23407676
  • Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. JAMA Neurol. 2013 Apr;70(4):481-7  
    http://www.ncbi.nlm.nih.gov/pubmed/23400676
  • Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC. Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol. 2013 Jun;70(6):746-55
    http://www.ncbi.nlm.nih.gov/pubmed/23609960
  • Ramos EM, Latourelle JC, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera C, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD,  Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics. 2013 Nov;14(3-4):173-9  
    http://www.ncbi.nlm.nih.gov/pubmed/23644918
  • Quintas M, Neto JL, Pereira-Monteiro J, Barros J, Sequeiros J, Sousa A, Alonso I, Lemos C. Interaction between γ-aminobutyric acid A receptor genes: new  evidence in migraine susceptibility. PLoS One. 2013 Sep 5;8(9):e74087  
    http://www.ncbi.nlm.nih.gov/pubmed/24040174
  • Lemos C, Coelho T, Alves-Ferreira M, Martins-da-Silva A, Sequeiros J, Mendonça D, Sousa A. Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):326-30  
    http://www.ncbi.nlm.nih.gov/pubmed/24046394
  • Barros J, Barreto R, Brandão AF, Domingos J, Damásio J, Ramos C, Lemos C, Sequeiros J, Alonso I, Pereira-Monteiro J. Monozygotic twin sisters discordant for familial hemiplegic migraine. J Headache Pain. 2013 Sep 16;14:77  
    http://www.ncbi.nlm.nih.gov/pubmed/24041236
  • Castilhos R, Souza A, Furtado G, Gheno T, Silva A, Vargas F, Lima MA, Barsottini O, Pedroso J, Godeiro C Jr, Salarini D, Pereira E, Lin K, Toralles MB, Saute J, Rieder C, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira M, Jardim L. Huntington disease and Huntington disease-like in a case series from Brazil. Clin Genet. 2013 Sep 14  
    http://www.ncbi.nlm.nih.gov/pubmed/24102565
  • Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG; ESHRE; EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology. Eur J Hum Genet. 2013 Nov;21 Suppl 2:S1-21  
    http://www.ncbi.nlm.nih.gov/pubmed/25006203
  • Leandro B, Paneque M, Sequeiros J, Porto G. Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping. J Genet Couns. 2014 Jan 8  
    http://www.ncbi.nlm.nih.gov/pubmed/24399095
  • Alves-Ferreira M, Pinho T, Sousa A, Sequeiros J, Lemos C, Alonso I. Identification of genetic risk factors for maxillary lateral incisor agenesis. J Dent Res. 2014 May;93(5):452-8  
    http://www.ncbi.nlm.nih.gov/pubmed/24554542
  • Barros J, Ferreira A, Brandão AF, Lemos C, Correia F, Damásio J, Tuna A, Sequeiros J, Coutinho P, Alonso I, Pereira-Monteiro J. Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley. Cephalalgia. 2014 Mar 19  
    http://www.ncbi.nlm.nih.gov/pubmed/24646837
  • Schuler-Faccini L, Osorio CM, Romariz F, Paneque M, Sequeiros J, Jardim LB. Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal. Genet Mol Biol. 2014 Mar;37(1 Suppl):263-70 
    http://www.ncbi.nlm.nih.gov/pubmed/24764760
  • Ogun SA, Martins S, Adebayo PB, Dawodu CO, Sequeiros J, Finkel MF. Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. Eur J Hum Genet. 2014 Apr 30  
    http://www.ncbi.nlm.nih.gov/pubmed/24781759
  • Barros J, Ruano L, Domingos J, Tuna A, Damásio J, Alonso I, Silveira I, Sequeiros J, Coutinho P. The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. Headache. 2014 May;54(5):911-5  
    http://www.ncbi.nlm.nih.gov/pubmed/24898624
  • Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG, ESHRE and EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. Hum Reprod. 2014 Aug;29(8):1603-9  
    http://www.ncbi.nlm.nih.gov/pubmed/24225486
  • Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA. Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Hum Genet. 2014 Jul 16  
    http://www.ncbi.nlm.nih.gov/pubmed/25026993