Actividades Científicas

PRÉMIOS

Best oral presentation: Tavares JB, Reimão S, Santos CM, Pimentel J, Santos S, Aguiar P and Campos JG. Correlação citogeno-imagiológica de oligodendrogliomas. VIII Congresso Português de Neurorradiologia, Biblioteca Almeida Garrett/Palácio de Cristal/Porto, Portugal, May 25-26, 2012

Best oral presentation: Brito D, Miltenberger-Miltenyi G, Silva D, Diogo N and Madeira H. Hypertrophic cardiomyopathy: clinical aspects of 7 novel missense mutations in MYBPC3 gene. I European Congress on Myocardial and Pericardial Diseases, Lisbon, Portugal, October 13-15, 2011

3rd best presentation: Miltenberger-Miltenyi G, Real Mendes L, Simão C, Pereira SV and Almeida M. Análise Genética da Síndrome Nefrótica Congénita ? primeiros resultados e descrição de quatro novas mutações. V Congresso Hispano-Português de Nefrologia Pediátrica, Guimarães, Portugal, June 24-26, 2010

Best Portuguese presentation: Miltenberger-Miltenyi G, Sandes AR, Mendes P, Silva JE, Pereira SV and Stone R. Pesquisa do Gene NPHS2 em Crianças com Glomerulosclerose Focal e Segmentar ? Descrição de Duas Novas Mutações. V Congresso Hispano-Portugues de Nefrologia Pediátrica, Guimarães, June 24-26, 2010

Bolsa/Prémio de Investigação Roche/APEF (2009) to Marcelino R, Janeiro A, Marinho R, Velosa J, Serejo F, Baldaia C and Nunes J, to the project Desenvolvimento de uma metodologia de pirosequenciação para detecção de mutações de resistência aos inibidores nucleosídicos e não nucleosídicos da polimerase e aos inibidores da protease, na infecção crónica pelo Vírus da Hepatite C (VHC)

Best oral communication: Marcelino R. Genetic Diversity of Hepatitis B virus (HBV) and change of resistance in Portugal. 11th Meeting of the Portuguese Association for the Study of Liver (APEF) 2008

PROJECTOS DE INVESTIGAÇÃO

Starting in 2013: Randomized, Double-blind, Placebo-controlled Phase 3 Study of Ibrutinib, a Bruton's Tyrosine Kinase (BTK) Inhibitor, in Combination with Bendamustine and Rituximab (BR) in Subjects With Relapsed or Refractory Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma. Janssen-Cilag. Coordinator: João Raposo Participant: Sónia Santos.

Starting in 2013: Analysis of CD34+ peripheral blood cells by FISH as cytogenetic monitoring of MDS. Celgene. Coordinator: Maria João Costa.Participant: Sónia Santos

Starting in 2013: Glucocerebrosidase in Parkinson?s disease: from risk factor to biomarker. Fundação para a Ciência e Tecnologia. Participant: Gabriel Miltenberger-Miltenyi

2012/present: Diagnosis and monitoring of Myeloid Leukemia (CML) patients: Molecular and Cytogenetic analysis. Bristol-Myers Squibb. Coordinator: José Alves do Carmo. Participants: Sónia Santos and Sónia Matos

2012/present: From bed to bench in atypical hemolytic uremic syndrome: genotype - phenotype association studies and screening for novel mutations in Portugal. 2011 Investigation grant of the Portuguese Society of Nephrology. Participant: Gabriel Miltenberger-Miltenyi

2012/present: Molecular characterization of the fibrinogen-eryhthrocyte interaction and its influence on Cardivascular pathologies. Fundação para a Ciência e a Tecnologia (FCT) PTDC/QUI-BIQ/119509/2010. Coordinator: Nuno Santos. Participant: Gabriel Miltenberger-Miltenyi

2012/present: Biomarkers for Alzheimer's disease and Parkinson's disease (BIOMARKADP). European research projects for the optimisation of biomarkers and harmonisation of their use between clinical centres. Joint Programming in Neurodegenerative Disease (JPND). Portuguese coordinator: Alexandre de Mendonça. Participant: Gabriel Miltenberger-Miltenyi

2011/2012: Caracterização genética de doentes com enxaqueca hemiplégica familiar tipo 1. Gabinete de Apoio à Investigação Científica (GAPIC) ? Medical Faculty, University of Lisbon -2010. Coordinator: Gabriel Miltenberger-Miltenyi

2011/present: Nephrotic syndrome in childhood - genotype phenotype association studies and screening for novel mutations. 2010 Investigation grant of the Portuguese Society of Nephrology. Coordinator: Gabriel Miltenberger-Miltenyi.

2011/present: Improving the quality of education through the development of science. TAMOP 4.1.2/B-09/1/KMR-2010-0001. Hungarian National Development Agency and Semmelweis University Budapest - external scientific collaborator. Coordinator: M.J. Molnar. Participant: Gabriel Miltenberger-Miltenyi

2012/present: Investigação translacional em Alzheimer. Quadro de Referência Estratégico Nacional (QREN). Coordinator: Sofia Corte-Real. Participant: Gabriel Miltenberger-Miltenyi

2010/present: Phenotype-genotype association studies in medullary cystic kidney disease - searching for new candidate genes. 2009 Investigation grant of the Portuguese Society of Nephrology Coordinator: Gabriel Miltenberger-Miltenyi.

2010-2013: Atomic force microscopy-based molecular recognition of fibrinogen receptors in platelets and erythrocytes. Applications in health and disease. Calouste Gulbenkian Foundation. Coordinator: N.C. Santos. Participant: Gabriel Miltenberger-Miltenyi

2009/2011: Development of a pyrosequencing method to detect resistance mutations to nucleosidic and non nucleosidic polimerase inhibitors and to protease inhibitors, in chronic infection of Hepatits C Virus (HCV), Coordinator: Rute Marcelino

2009/present: Multicenter comparison of assays for cerebrospinal fluid markers for Alzheimer's Disease, University Medical Center Funding. Coordinators: Niek Verwey.

2009/present: Multicentre study of comparison of different testing strategies of K-ras mutations in tumorous tissue of colorectal cancer, Roche Funding. Coordinators: Prof.Dr. J. Han J.M. van Krieken and Gabriel Miltenberger-Miltenyi.

2009/present: Development of a pyrosequencing method to detect resistance mutations to nucleosidic and non nucleosidic polimerase inhibitors and to protease inhibitors, in chronic infection of Hepatits C Virus (HCV), Roche/APEF Funding. Coordinator: Rute Marcelino

2008/present: Genetics of obesity - a study of polymorphisms, FCT Funding. Coordinators: Helena Cortez Pinto and Gabriel Miltenberger-Miltenyi. (PTDC/SAU-OSM/100878/2008)

2008/present: Genetics of alcohol - a study of polymorphisms, APEF/Schering-Plough Farma Funding. Coordinators: Helena Cortez Pinto and Gabriel Miltenberger-Miltenyi.

2008-2009: Diabetic nephropathy - analysis of polymorphisms of the TCF7L2 gene in susceptibility to diabetic nephropathy in patients with type 2 diabetes mellitus, Sanofi-Aventis Funding. Coordinators: Gabriel Miltenberger-Miltenyi and Sara Gonçalves.

2008-2009: Impact of intreratrial setum anomalies in stroke of young adults (Factor II e XII), GAPIC/AIDFM Funding. Coordinators: Gabriel Miltenberger-Miltenyi and Ana Almeida.

2008-2009: Study of the gene for vitamin D binding protein (DBP) in the DNA of patients with amyotrophic lateral sclerosis, GAPIC/AIDFM Funding. Coordinators: Gabriel Miltenberger-Miltenyi and Mamede de Carvalho.

2006-2009: Study of Prognostic Factors in Chronic Lymphocytic Leukaemia Patients, Schering Lusitana Foundation and Private Donation. Coordinator: Joana Perdigão e Sónia Matos (LLC Project)

PUBLICAÇÕES EM REVISTAS INTERNATIONAIS

van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Engelborghs S, Vandenbulcke M, Bäumer V, Maes G, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, Synofzik M, Maetzler W, Müller vom Hagen J, Schöls L, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Sanchez-Valle R, Llado A, Gelpi E, Graff C, Chiang HH, Westerlund M, Nacmias B, Bagnoli S, Sorbi S, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Sarafov S, Tournev I, Jordanova A, Kovacs G, Ströbel T, Heneka MT, Jessen F, Matej R, Parobkova E, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Cras P, Robberecht W, De Jonghe P, Vandenberghe R, De Deyn PP, Cruts M and Van Broeckhoven C, on behalf of the European Early-Onset Dementia (EOD) Consortium. A Pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability and intermediate repeats. Hum Mutat. 2013;34:363-73. (IF [2011]: 5.686)

Dijkstr J.R., Boers J.E., Diebold J., Hirschmann A, Heideman D.A.M., Hoefler G., Miltenberger-Miltenyi G., Richman S.D., Rouleau E., Tejpar S., van Krieken J.H.J.M. KRAS mutation analysis on low percentage of colon cancer cells: the importance of quality assurance. Virchows Archiv 2013;462(1):39-46. (IF [2011]: 2.491)

Neutel D, Miltenberger-Miltenyi G, Silva I, de Carvalho M. Chorea-acanthocytosis presenting as motor neuron disease. Muscle Nerve. 2012;45:293-5. (IF [2009]: 4.480)

Jorge C, Marques JS, Miltenberger-Miltényi G, Pinto FJ. Hypertrophic cardiomyopathy or non-compaction? How the first impression can be wrong. Int J Cardiol. 2012;158:e53-4. (IF [2010]: 6.802)

Taipa R, Tuna A, Damásio J, Pinto PS, Cavaco S, Pereira S, Milterberger-Miltenyi G, Galimberti D, Pires MM. Clinical, neuropathological and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia. J Alzheimers Dis. J Alzheimers Dis. 2012;30:83-90. (IF [2010]: 4.261)

Andreasson A, Sulaiman L, do Vale S, Martins JM, Ferreira F, Miltenberger-Miltenyi G, Batista L, Haglund F, Björck E, Nilsson IL, Larsson C, Juhlin CC. Molecular characterization of parathyroid tumors from two patients with constitutional APC mutations. Familial Cancer 2012;11:355-62. (IF [2010]: 2.139)

Chester C, de Carvalho M, Miltenberger G, Pereira S, Dillen L, van der Zee J, Van Broeckhoven C, de Mendonça A. Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation. Amyotrophic Lateral Sclerosis 2012 Jun 29. [Epub ahead of print] (IF [2010]: 3.397)

Michou L, Conceicao N, Morissette J, Gagnon ER, Miltenberger-Miltenyi G, Siris ES, Brown JP, Cancela ML. Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. Bone 2012;51:720-8. (IF [2010]: 4.023)

de Oliveira RM, Marijanovic Z, Carvalho F, Miltényi GM, Matos JE, Tenreiro S, Oliveira S, Enguita FJ, Stone R and Outeiro TF (2011) Impaired proteostasis contributes to renal tubular dysgenesis. PLoS One, 6(6):e20854 (IF [2009]: 4.411, cited: 0)

Cardoso BM, Castanhinha S, Dupont J, Albuquerque M, Pereira SV, Miltenberger-Miltenyi G and Oliveira G (2010) Cleidocranial Dysplasia with Severe Parietal Bone Dysplasia: a new (p.Val124Serfs) RUNX2 mutation. Clinical Dysmorphology, 19(3):150-2 (IF [2009]: 0.468, cited: 0)

Carvalho FA, Connell S, Miltenberger-Miltenyi G, Pereira SV, Tavares A, Ariëns RAS and Santos NC (2010) Atomic Force Microscopy-Based Molecular Recognition of a Fibrinogen Receptor on Human Erythrocytes. ACS Nano, 4(8):4609-20. (IF [2009]: 7.493, cited: 0)

Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba C, Seidl R, Albrecht G, Weirich-Schwaiger H, Utermann G, Auer-Grumbach M and Janecke AR (2009) Identification and in-silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. epub: Eur J Hum Genet., 7:1154-9 (IF [2008]: 3.925, cited: 0)

PUBLICAÇÕES EM REVISTAS NACIONAIS

Silva D, Miltenberger-Miltenyi G, Correia MJ. (2013) Novel mutation in the KCNH2-encoded gene associated with long QT syndrome. Rev Port Cardiol. (Epub ahead of print)

Brito D, Miltenberger-Miltenyi G, Pereira SV, Silva D, Nunes Diogo A, Madeira HC. Sarcomeric hypertrophic cardiomyopathy: genetic profile of a Portuguese population. Rev Port Cardiol. 2012;31:577-87

Jorge C, Marques JS, Veiga A, Nóbrega J, Cruz J, Peralta R, Correia MJ, de Sousa J, Miltenberger-Miltényi G and Nunes Diogo A (2011) Novel mutation in long QT syndrome in a patient with prior diagnosis of epilepsy. Rev Port Cardiol., Nov 18

Matos S (2011) LMC: Monitorização da Resposta e Mecanismos de Resistência. HematOncologia Especial, 14-15

Antunes J, Filipe P, André M, Fraga A, Miltenyi G, Marques Gomes M (2010) Livedoid Vasculopathy Associated with Plasminogen Activator Inhibitor-1 Promoter Homozygosity (4G/4G) and Prothrombin G20210A Heterozygosity: Response to t-PA Therapy. Acta Derm Venereol., 90(1):91-2. (IF [2009]: 3.007, cited: 0)

Marcelino R (2009). Como lidar com as resistências virais? Rev. Farmácia Portuguesa 183, 32-34

Carmo-Fonseca M (2009) Quem foram os nossos antepassados? Rev. Farmácia Saúde 155, 32-34

Carmo-Fonseca M (2009). Cancro ? uma doença genética. Rev. Farmácia Saúde 154, 36-38

Carmo-Fonseca M (2009) Testes genéticos de ancestralidade. Rev. Farmácia Portuguesa 182, 22-23

Carmo-Fonseca M (2009) Irei sofrer de Dpença de Alzheimer? Rev. Farmácia Saúde 153, 54-56

Carmo-Fonseca M (2009) Investigação biológica de parentesco. Rev. Farmácia Portuguesa 181, 42-44

Carmo-Fonseca M (2009) O vírus causador de cancro. Rev. Farmácia Saúde 151, 40-42

Carmo-Fonseca M (2009) A incerteza da susceptibilidade genética. Rev. Farmácia Portuguesa 180, 38-39

Carmo-Fonseca, M. (2009) Genes e saúde. Rev. Farmácia Saúde 149, 40-41

Carmo-Fonseca, M. (2009) A farmácia na era pós genómica. Rev Farmácia Portuguesa 179, 32-33

Cortez-Dias N, Correia MJ, Coutinho A, Fernandes C, Nunes Diogo A, Lopes MG (2009) Pharmacogenetics and anticoagulant therapy: two cases of genetically determined response to warfarin. Rev. Port. Cardiol., 28 (9) 995-1004

COMUNICAÇÕES EM CONFERÊNCIAS INTERNACIONAIS

Tavares JB, Reimão S, Geraldo AF, Pimentel J, Santos S, Aguiar P, Campos JG. The importance of co-deletions 1p36/19q13 in tumor imaging diagnosis. 36th European Society of Neuroradiology Annual Meeting 2012 Abstracts, Neuroradiology, Vol 54 (Suppl 1): S67-S68, Edimburgh, Scotland, September 20-23, 2012 (Abstract)

Kovács T, Reményi V, Molnár MJ, Tegze N and Miltenberger-Miltényi G. Rare finding in early-onset dementia: description of a patient with a novel PSEN2 mutation harbouring pathogenic huntingtin allele. Alzheimer's Association International Conference on Alzheimer's Disease, Vacouver, Canada, July 14-19, 2012 (Abstract)

Miltenberger-Miltenyi G, Calado J, Carvalho MF, Viana H, Pereira SV, Teixeira C, Jorge S, Brinca AR, Ars E and Almeida E. Simultaneous occurrence of medullary cystic kidney disease type 2 and autosomal dominant polycystic kidney disease in a single family due to novel UMOD and PKD1 mutations. Congress of the European Society of Human Genetics, Nuremberg, Germany, June 23-26, 2012 (Abstract)

Remenyi V, Miltenberger-Miltenyi G, Nyiro G, Kovacs T and Molnar MJ. Double hit for the neurons: the coexistence of a novel presenilin 2 mutation and a huntingtin gene CAG repeat expansion. ENS 2012 ? 22nd Meeting of the European Neurological Society, Prague, Czech Republic, June 09-12, 2012 (Abstract)

Viveiros C, Neves M, Ferreira C, Santos S, Matos S, Raposo J and Alves do Carmo J. Lenalidomide in 5q- syndrome ? an efficient therapeutic option. ECCLU: What is new in Haemato-Oncology?, Lugano, Switzerland, April 21-22, 2012 (Oral presentation)

Viveiros C, Neves M, Ferreira C, Santos S, Matos S, Raposo J and Alves do Carmo J. Lenalidomide: a valid therapeutic option in Primary Myelofibrosis. ECCLU: What is new in Haemato-Oncology?, Lugano, Switzerland, April 21-22, 2012 (Oral presentation)

Miltenberger-Miltényi G, Reményi V, Molnár MJ and Kovács T. Rare finding in dementia: description of a patient with a novel PSEN2 mutation. X Congress of the Hungarian Society of Clinical Neurogenetics, Budapest, Hungry, December 2-3, 2011 (Oral presentation)

Brito D, Miltenberger-Miltenyi G, Silva D, Diogo N and Madeira H. Hypertrophic cardiomyopathy: clinical aspects of 7 novel missense mutations in MYBPC3 gene. I European Congress on Myocardial and Pericardial Diseases, Lisbon, Portugal, October 13-15, 2011 (Oral presentation)

van Krieken H, Dijkstra J, Shieh F, Hoefler G, Richman S, Heidemann D, Diebold J, Rouleau E, Boers E, Miltenberger-Miltenyi G, Ligtenberg M, Tejpar S and Lawrence J. KRAS mutation analysis on low percentage of tumor cells: The importance of standardization and quality assurance. 23rd European Congress of Pathology (ECP 2011), Helsinki, Finland, August 27 ? September 1, 2011 (Oral presentation)

Miltenberger-Miltenyi G, Almeida E, Calado J, Carvalho F, Teixeira C, Jorge S, Pereira S, Viana H and Gomes da Costa A. Report on four novel UMOD mutations in medullary cystic kidney disease patients in Portugal. 48th Congress of European Renal Association - EDTA, Prague, Czech Republic, June 23-26, 2011 (Poster presentation)

Miltenberger-Miltényi G, Pereira SV, János B, Lídia B, György F and László S. Clinical and genetic testing of further three patients with GSD I from Hungary. European Human Genetics Conference, Amsterdam, Netherlands, May 28-31, 2011 (Poster presentation)

Miltenberger-Miltenyi G. Presentation of GenoMed and IMM at the EUNEFRON Yearly Meeting 2010 and Symposium, Paris, France, October 22-23, 2010 (Oral presentation)

Matos S, Santos S, Guerra L, Raposo J, Porta Nova T and Alves do Carmo J. Monitoring Cytogenetic and Molecular Responses in CML: an experience of 5 Years. ELN Frontiers Meeting ? Continuing the CML revolution: Expanding options in targeted therapy, Vienna, Austria, October 22-24, 2010 (Poster presentation)

Miltenberger-Miltenyi G, Neutel D, Silva I, Coelho H and Mamede de Carvalho. Chorea-acanthocytosis. Congress of the Austrian Society of Human Genetics, Vienna, Austria, September 24, 2010 (Oral presentation)

Miltenberger-Miltenyi G, Real Mendes L, Simão C, Pereira SV and Almeida M. Análise Genética da Síndrome Nefrótica Congénita ? primeiros resultados e descrição de quatro novas mutações. V Congresso Hispânico-Português de Nefrologia Pediátrica, Guimarães, Portugal, June 24-26, 2010 (Oral presentation)

Miltenberger-Miltenyi G, Sandes AR, Mendes P, Silva JE, Pereira SV and Stone R. Pesquisa do Gene NPHS2 em Crianças com Glomerulosclerose Focal e Segmentar ? Descrição de Duas Novas Mutações. V Congresso Hispânico-Português de Nefrologia Pediátrica, Guimarães, Portugal, June 24-26, 2010 (Oral presentation)

Coutinho AM, Nolasco R, Silva I, HSM Genetic Counselling Unit, Miltenberger-Miltenyi G and Carmo-Fonseca M. BRCA genetic variation in a Portuguese breast/ovarian cancer population. EMBO | EMBL Symposia 2010 ?Human Variation: Cause and Consequence?, Heidelberg, Germany, June 20-23, 2010 (Poster presentation)

Miltenberger-Miltenyi G, Calado J, Carvalho F, Pereira SI, Teixeira C, Jorge S, Viana H, Gomes da Costa A. and Almeida E. Medullary cystic kidney disease: analysis of a large Portuguese family. Congress of the European Society of Human Genetics, Gotenborg, Sweden, June 12-15, 2010 (Poster presentation)

Santos-Sousa P, Guerra L, Gomez B, Valle S, Lopes C, Raposo J, Martins C, Costa MJ, Esteves G, Fajardo J, Forjaz Lacerda J, Santos S, Sousa C and Alves do Carmo J. Chronic Myeloid Leukemia in the Imatinib Era: The predictive value of optimal response at 12 months of therapy on achieving molecular response and disease progression, 15th Congress of the European Association, Barcelona, Spain, June, 10-13, 2010 (Abstract)

Miltenberger-Miltenyi G, Calado J, Carvalho F, Pereira SI, Teixeira C, Jorge S, Viana H, Gomes da Costa A and Almeida E. Further evidence on genetic heterogeneity of medullary cystic kidney disease: report on a large Portuguese family, Congress of the German Society of Human Genetics, Hamburg, Germany, March 2-4, 2010 (Poster presentation)

Gonçalves S, Fernandes P, Couceiro J, Coutinho A, Fortes A, Abreu F, Gomes da Costa A, Miltenberger-Miltenyi G. Analysis of the association of TCF7L2 polymorphism rs7903146 with susceptibility to diabetic nephropathy on type 2 diabetic patients, American Society of Nephrology, Renal Week 2009, San Diego, CA, USA, October 27 - November 1, 2009 (Poster presentation)

Cardoso B, Castanhinha S, Dupont J, Albuquerque M, Oliveira G, Pereira S and Miltenberger-Miltenyi G. Cleidocranial dysplasia with severe calvarial phenotype in a patient with a new RUNX2 mutation. 9th World Congress of Perinatal Medicine, Berlin, Germany, October 24-28, 2009 (Poster presentation)

Miltenberger-Miltenyi G and Pereira SV. Molecular genetical findings of familial Alzheimer?s disease anda familial frontotemporal lobar degeneration in a patient cohort in Portugal ? description of five novel mutations, Congress of the European Society of Human Genetics, Vienna, Austria, May 23-26, 2009 (Oral presentationa)

COMUNICAÇÕES EM CONFERÊNCIAS NACIONAIS

Silva I, Mateus PM, Gil-Gouveia R and Miltenberger-Miltenyi G. Associação genótipo/fenótipo de duas novas mutações no gene CACNA1A em dois casos de Enxaqueca Hemiplégica, Congress of the Portuguese Society of Neurology, Lisbon, November 23-24, 2012 (Poster presentation)

Silveira C, Miltenberger-Miltenyi G and Ferro JM. Caracterização clínica e genética de uma família portuguesa com doença de Moyamoya: evidências de heterogeneidade genética, Congress of the Portuguese Society of Neurology, Lisbon, November 23-24, 2012 (Poster presentation)

Pires C, Verdelho A, Valadas A, Coelho M, Barroso C, Miltenberger-Miltenyi G, Pimentel J and de Mendonça  A. Heterogeneidade fenotípica das mutações da progranulina ? descrição de casos com nova mutação frameshift, Congress of the Portuguese Society of Neurology, Lisbon, November 23-24, 2012 (Poster presentation)

Miltenberger-Miltenyi G, Silva I, Enguita FJ, Danek A, Bader B, Lin K and Bernardi P. Coreia-Acantocitose: nova mutação de splicing num caso Brasileiro e revisão da doença, Congress of the Portuguese Society of Neurology, Lisbon, November 23-24, 2012 (Oral presentation)

Miltenberger-Miltenyi G and Almeida MR. C9ORF72 repeat expansion as genetic cause in Frontotemporal lobar degeneration with amyotrophic lateral sclerosis (FTLD-ALS). Congress of the Portuguese Society of Neurology, Lisbon, November 23-24, 2012 (Oral presentation)

Matos S, Santos S, Malveiro S, Costa P, Ferreira A, Neves M, Guerra L and Alves do Carmo J. Tipo de transcrito de fusão BCR-ABL (p210): Factor de prognóstico da LMC?, Reunião Anual da Sociedade Portuguesa de Hematologia 2012, Porto, November 8-10, 2012 (Poster presentation)

Ferreira A, Neves M, Guerra L, Valle S, Lopes C, Viveiros C, Raposo J, Martins C, Costa MJ, Santos S, Matos S and Alves do Carmo J. Terapia com inibidores de 2ª geração em doentes com LMC ? fase crónica, resistentes ou intolerantes ao Imatinib, Reunião Anual da Sociedade Portuguesa de Hematologia 2012, Porto, November 8-10, 2012 (Poster presentation)

Pires C, Verdelho A, Valadas A, Coelho M, Barroso C, Miltenberger-Miltényi G, de Mendonça A. Heterogeneidade fenotípica das mutações da progranulina ? descrição de casos com novas mutações, 26ª Reunião do Grupo de Estudo de Envelhecimento Cerebral e Demências, Tomar, June 29-30, 2012 (Poster presentation)

Miltenberger-Miltényi G and Almeida MR. C9ORF72 repeat expansion, as a new cause of both Frontotemporal lobar degeneration and amyotrophic lateral sclerosis (FTLD-ALS), 26ª Reunião do Grupo de Estudo de Envelhecimento Cerebral e Demências, Tomar, June 29-30, 2012 (Oral presentation)

Tavares JB, Reimão S, Santos CM, Pimentel J, Santos S, Aguiar P and Campos JG. Correlação citogeno-imagiológica de oligodendrogliomas, VIII Congresso Português de Neurorradiologia, Biblioteca Almeida Garrett/Palácio de Cristal/Porto, May 25-26, 2012 (Oral presentation)

Miltenberger-Miltenyi G, Sandes AR, Mendes LR, Almeida M and Rosa FC. Estudo de associações genótipo-fenótipo na síndrome nefrótica corticorresistente, ENCONTRO RENAL 2012. Congress of the Portuguese Society of Nephrology, Vilamoura, March 28-31, 2012 (Oral presentation)

Miltenberger-Miltenyi G, Calado J, Carvalho MF, Viana H, Pereira SV, Teixeira C, Jorge S, Brinca AR, Ars E and Almeida E. Ocorrência simultânea de Doença Renal Medular Quística tipo 2 e de Doença Poliquística Renal Autossómica Dominante (PKD1) numa única família devido a novas mutções nos genes UMOD e PKD1, ENCONTRO RENAL 2012. Congress of the Portuguese Society of Nephrology, Vilamoura, March 28-31, 2012 (Poster presentation)

Santos PS, Conceição C, Silveira MP, Gomes AP, Afonso C, Reichert A, Pinto M, Santos S and Lima F. Um Caso de Leucemia Mieloide Aguda com inv(3)(q21q26) e Trombocitose Sintomática, Reunião Anual da Sociedade Portuguesa de Hematologia, Centro de Congressos dos Salgados, Albufeira, November 10-12, 2011 (Publication)

Miltenberger-Miltenyi G, Pereira SV, Timoteo A and Costa C. Uma família com doença de Parkinson sem mutações nos genes SNCA, LRRK2 e PARK2 ? mais um exemplo de heterogeneidade genética, Congresso de Neurologia, Lisbon, Nov 06, 2011 (Oral presentation)

Miltenberger-Miltenyi G, Verdelho A, Pereira SV, Barroso C and de Mendonça A. Variabilidade de expressão de uma nova mutação no gene GRN numa família com Degenerescência Lobar Frontotemporal, Congresso de Neurologia, Lisbon Nov 06, 2011 (Oral presentation)

Miltenberger-Miltényi G, Pereira SV and de Mendonça A. Alzheimer?s disease associated biomarkers in the cerebrospinal fluid of non-demented individuals ? searching for laboratory specific normal values, 25ª Reunião do Grupo de Estudo de Envelhecimento Cerebral e Demências, Tomar, June 3-4, 2011 (Oral presentation)

Miltenberger-Miltenyi G, Almeida E, Teixeira C, Jorge S, Carvalho F and Gomes da Costa A. Medullary cystic kidney disease in Portugal ? genetic results of 14 families, Encontro renal ? Congress of the Portuguese Society of Nephrology, Vilamoura, March 30, 2011 (Poster presentation)

Miltenberger-Miltenyi G, Neutel D, Silva I, Coelho H and Mamede de Carvalho. Resultados genéticos dum paciente com coreia-acantocitose ? descrição de três novas variantes no gene VPS13A, Congresso da Sociedade Portuguesa de Neurologia, Espinho, Portugal, November 5-7, 2010 (Poster presentation)

Pereira SV, Silva M and Miltenberger Miltenyi G. Genetic testig of dementia ? results on a Portuguese patient cohort, XXIV Reunião do Grupo de Estudos de Envelhecimento Cerebral e Demências, Tomar, Portugal, June 25-26, 2010 (Oral presentation)

Luís IV, Ribeiro J, Matias M, Fernandes I, Casa-Nova M, Cortes P, Pereira SV, Miltenberger- Miltenyi G and Costa L. Impacto  do estado mutacional do KRAS nos tempos de sobrevivência global na neoplasia do cólon metastizada: Avaliação retrospectiva, "Oncologia 2010 - Encontros da Primavera", Sociedade Portuguesa de Oncologia, Évora, Portugal, April 8-11, 2010 (Poster presentation)

Robusto-Leitão O, Fernandes C, Nolasco R and Miltenberger-Miltenyi G. Pharmacogenetic study (P450) of a sample of patients with inadequate response to psychotropic drugs, V Congresso da Sociedade Portuguesa de Psiquiatria e Saúde Mental, Porto, Portugal, November 24-28, 2009 (Oral presentation)

Miltenberger-Miltenyi G, Real Mendes L, Esteves da Silva J, Simão C, Stone R and Almeida M. Preliminary data from genetic analysis in Portuguese children with nephrotic syndrome, description of three new mutations, Jornadas de Pediatria, Lisbon, Portugal, November 11-14, 2009 (Oral presentation)

Santos-Sousa P, Lourenço F, Forjaz Lacerda J, Martins C, Moreno R, Matos S, Santos S, Sousa C, Serra-Caetano A, Carmo-Fonseca M and Alves do Carmo J. Leucemia Aguda en Células de Dador Post-Transplante de Progenitores Hematopoyéticos en un Caso de Linfoma No-Hodgkin Folicular, LI National Meeting of AEHH and 25º National Congress of SETH, Barcelona, Spain, November 12-14, 2009 (Poster presentation)

Miltenberger-Miltenyi G. Genotype-phenotype correlations in familial dementia in a Portuguese patient cohort ? identification of seven novel mutations, Congresso de Neurologia, Lisbon, Portugal, November 5-7, 2009 (Oral presentation)

Santos-Sousa P, Lourenço F, Forjaz Lacerda J, Martins C, Villa-Lobos I, Ferreira C, Matos S, Santos S, Sousa C, Serra-Caetano A, Carmo-Fonseca M and Alves do Carmo J. Leucemia Aguda em Células do Dador Pós-Transplante Alogénico de Progenitores Hematopoiéticos num Caso de Linfoma Não-Hodgkin Folicular, Reunião Anual da SPH, Centro de Congressos de Tróia, Tróia, Portugal, October 29-31, 2009 (Poster presentation).

Santos-Sousa P, Guerra L, Gomez B, Valle S, Lopes C, Raposo J, Martins C, Costa MJ, Esteves G, Fajardo J, Forjaz Lacerda J, Santos S, Sousa C and Alves do Carmo J. Terapêutica da Leucemia Mielóide Crónica com Imatinib: Valor Preditivo da Resposta Citogenética Completa aos 12 meses na Obtenção de Resposta Molecular e Progressão de Doença, Reunião Anual da SPH, Centro de Congressos de Tróia, Tróia, Portugal, October 29-31, 2009 (Oral presentation)

Guerra L, Santos-Sousa P, Gomez B, Valle S, Lopes C, Raposo J, Martins C, Costa MJ, Santos S, Sousa C and Alves do Carmo J. Terapêutica com Dasatinib ou Nilotinib em Doentes com Leucemia Mielóide Crónica Resistentes ou Intolerantes ao Imatinib, Reunião Anual da SPH, Centro de Congressos de Tróia, Tróia, Portugal, October 29-31, 2009 (Poster presentation)

Machado MV, Fernandes CR, Miltenberger-Miltényi G, Martins A, Gonçalves MS and Cortez-Pinto H. Doença Hepática Alcoólica e polimorfismos promotores de angiogenese, Congresso Nacional de Gastroenterologia e Endoscopia Digestiva, Porto, Portugal, June 18-20, 2009 (Poster presentation)

Rodrigues T, Barroso C, Santos S, Carvalho H, Coiteiro D, Almeida A, Bujor L and Albuquerque L. Study 1p/19q deletion in primary and secundary anaplastic oligodendroglioma, Neuro 2009 ? Congresso da Sociedade Portuguesa de Neurologia e Neurocirurgia, Albufeira, Portugal, May 14-16, 2009 (Oral presentation)

Porta Nova T. A venda ao público de testes genéticos - Congresso Científico da ANL, Porto, Portugal, May 1-2, 2009 (Oral presentation)

INVITED LECTURES AND SEMINARS

Santos S. Identificação de alterações cromossómicas nas SMD e Análise de cariótipos e de alterações cromossómicas (FISH), XVI CURSO Pós-graduação e actualização em Hematologia - Neoplasias Mieloproliferativas e Mielodisplásicas, Faculdade de Farmácia de Lisboa ? Laboratório de Hematologia, Lisbon, Portugal, September 29-30, 2012 (2th Edition)

Miltenberger-Miltenyi G. Genetics in Cardiology: the magic and the pitfalls. (together with Prof. Dulce Brito) 5ª Reunião de Investigação do GAIC - Gabinete de Apoio à Investigação Cardiovascular AIDFM, September 10, 2012

Miltenberger-Miltenyi G. New genes in old dementias. Forum Futuro Grünenthal. Lisbon, Portugal, September 22, 2012

Santos S. Identificação de alterações cromossómicas nas SMD e Análise de cariótipos e de alterações cromossómicas (FISH), XVI CURSO Pós-graduação e actualização em Hematologia - Neoplasias Mieloproliferativas e Mielodisplásicas, Faculdade de Farmácia de Lisboa ? Laboratório de Hematologia, Lisbon, Portugal, April 21- 22, 2012 (1st Edition)

Marcelino R. HCV Resistance, Sharing Evolution2 Workshop - Delivering the Commitment, Miragem Hotel, Cascais, Portugal, November 12, 2011

Miltenberger-Miltenyi G. O estudo genético da demência. Curso de Demências. Congresso de Neurologia 2011, Lisbon, Portugal, November 06,  2011

Marcelino R. IL28B genetic polymorphisms and Hepatitis C: Portuguese data, Advanced Course on viral Hepatitis, Gastroenterology Service of Santa Maria Hospital, Lisbon, Portugal, October 7, 2011

Miltenberger-Miltenyi G. Genetic basis of skeletal disease and pathological calcifications. Advanced Course: Human Genetics: from basic science to clinics and genetic counselling. University of Algarve, Faro, Portugal, July 21-22, 2011

Miltenberger-Miltenyi G. Human genetics and bone diseases. Masters in Biomedical Sciences; University of Algarve, Faro, Portugal, April 01, 2011

Matos S. and Costa P. Testes de Citogenética / Biologia Molecular em Hemato-Oncologia. Serviços de Patologia Clínica e Hematologia do CHLO, Hospital de S. Francisco Xavier, Lisbon, Portugal, November 25, 2010

Matos S. LMC: Monitorização da Resposta e Mecanismos de Resistência. Reunião Anual da Sociedade Portuguesa de Hematologia, Centro de Congressos de Tróia, Tróia, Portugal, November 12, 2010

Santos S. Citogenética/IPSS em SMD, 1º Curso Teórico-Prático Síndrome Mielodisplásica, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal, October 16, 2010

Carmo-Fonseca M. Changing Paradigms in the Diagnosis of Lung Cancer, EGFR gene mutation testing.  Workshop Astrazeneca, Lisbon, Portugal, May 29, 2010

Porta Nova T. Diagnóstico Genético e sua aplicação na Personalização de Medicamentos. VIII Simpósio do Núcleo de Estudantes de Ciências Farmacêuticas do ISCS. Monte da Caparica, Portugal, May 26, 2010

Porta Nova T. O uso da Genética no mundo jurídico. Conferência O direito médico e a Advocacia. JPAB Sociedade de Advogados e Espírito Santo Saúde, Lisbon, Portugal, May 21, 2010

Marcelino R. Hepatite B e Infecção Oculta: Conceitos, Problemas e Diagnóstico; Quantificação do DNA viral. 3º Congresso Português de Hepatologia, Évora, Portugal, May 14, 2010

Santos S. and Matos S. Discussão de dois casos clínicos com apresentação dos resultados obtidos na GenoMed, Reunião dos Serviços de Anatomia Patológica e Hematologia e Transplantação de Medula do CHLN, Hospital de Santa Maria, Lisbon, Portugal, April 22, 2010

Marcelino R. Diagnóstico Serológico de Hepatites Virais, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal, March 25, 2010

Carmo-Fonseca M. Da célula ao feto ? estado de arte da tecnologia. II Simpósio Gravidez após os 40 anos. Hospital da Luz, Lisbon, Portugal, February 24-25, 2010

Santos-Sousa P, Gomez B, Guerra L, Matos S, Santos S. Leucemia Mielóide Crónica no século XXI: uma revolução terapêutica. Experiência do Serviço de Hematologia e Transplantação de Medula do CHLN-HSM. Sessões Clínicas da Faculdade de Medicina de Lisboa/Hospital de Santa Maria, Lisbon, Portugal, January 21, 2010

Miltenberger-Miltenyi G. Molecular genetic diagnostics from the patient to the laboratory: basics, applications and new developments. Seminars of Biomedical Sciences (Licenciatura), Universidade do Algarve, Faro, Portugal, October 21, 2009

Santos, S. BioPortugal em parceria com a GenoMed. Workshop de FISH - Kreatech, GenoMed/ IMM, Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisbon, Portugal, November 26-27, 2009

Marcelino R. Detection Methods of Hepatitis B Virus Mutants Against Nucleos(t)ide Analogues? certainties and problems. Viral Hepatitis Monothematic Reunion, Guimarães, Portugal, January 24, 2009

ADVANCED TEACHING

Miltenberger-Miltenyi G. Genetics of Dementia. Advanced course: Masters/PhD course in Neurosciences, Faculdade de Medicina, Universidade de Lisboa, Module: Cognitive Deterioration in Ageing and Dementia, Lisbon, Portugal, April 11, 2012

Miltenberger-Miltenyi G. Human genetics and bone diseases. Seminars in Masters in Biomedical Sciences (Formação avançada), University of Algarve, Faro, Portugal, March 29, 2012

Marcelino R. Molecular Biology Module of Emergent Infectious Diseases Master Course, of Faculty of Medicine of Lisbon University, Lisbon, Portugal, January 24 and 31, 2011

Marcelino R. ?Módulo de biologia molecular? Curso de Mestrado em Doenças Infecciosas Emergentes. FMUL, Lisbon, Portugal, January, 7 and 14, 2010

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