Publications by authors named "Purificacao Tavares"

28Publications

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 06 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0038-1639372DOI Listing
June 2018

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.

Neuromuscul Disord 2018 03 13;28(3):278-282. Epub 2017 Dec 13.

Department of Neurology, Hospital Prof. Doutor Fernando Fonseca, EPE, IC 19, 2720-276 Amadora, Portugal.

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http://dx.doi.org/10.1016/j.nmd.2017.12.005DOI Listing
March 2018

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.

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

V280G Mutation, Potential Role in Imatinib Resistance: First Case Report.

Clin Med Insights Oncol 2017 6;11:1179554917702870. Epub 2017 Apr 6.

Department of Hematology, Centro Hospitalar de Lisboa Ocidental, Lisboa, Portugal.

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http://dx.doi.org/10.1177/1179554917702870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395261PMC
April 2017

Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies.

J Orthod 2013 Dec;40(4):299-306

Pedro Mariano Pereira, Department of Orthodontics, Instituto Superior de Ciências da Saúde Egas Moniz, Campos Universitário, Quinta da Granja, Monte da Caparica, 2829-511 Caparica, Portugal.

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http://dx.doi.org/10.1179/1465313313Y.0000000067DOI Listing
December 2013

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

Gene 2013 Oct 6;529(1):186-9. Epub 2013 Aug 6.

Department of Paediatrics, Centro Hospitalar do Médio Ave, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.07.031DOI Listing
October 2013

Different manifestations of Class II Division 2 incisor retroclination: a morphologic study.

Am J Orthod Dentofacial Orthop 2013 Mar;143(3):310-6

Department of Orthodontics, Egas Moniz High Institute for Health Science, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.ajodo.2012.09.021DOI Listing
March 2013

Piebaldism and neurofibromatosis: state of knowledge.

Dermatol Online J 2013 Jan 15;19(1):17. Epub 2013 Jan 15.

Hospital de São João, EPE Porto, Porto, Portugal.

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January 2013

Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib.

Oncol Rep 2013 Feb 28;29(2):741-50. Epub 2012 Nov 28.

Human Molecular Genetics Research Centre, Department of Genetics, New University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.3892/or.2012.2153DOI Listing
February 2013

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.

Acta Med Port 2011 Nov-Dec;24(6):1079-86. Epub 2012 Feb 20.

Department of Internal Medicine, University Hospital of Coimbra, Coimbra, Portugal.

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November 2012

DNA damage response in imatinib resistant chronic myeloid leukemia K562 cells.

Leuk Lymphoma 2012 Oct 21;53(10):2004-14. Epub 2012 May 21.

CIGMH Human Molecular Genetics Research Center, Department of Genetics, Faculty of Medical Sciences, Universidade Nova de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.3109/10428194.2012.681654DOI Listing
October 2012

Development of imatinib and dasatinib resistance: dynamics of expression of drug transporters ABCB1, ABCC1, ABCG2, MVP, and SLC22A1.

Leuk Lymphoma 2011 Oct 12;52(10):1980-90. Epub 2011 Jun 12.

Human Molecular Genetics Research Center (CIGMH), Department of Genetics, Faculty of Medical Sciences, Universidade Nova de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.3109/10428194.2011.584005DOI Listing
October 2011

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.

Eur J Dermatol 2011 Jul-Aug;21(4):479-83

Dermatovenereology Department, Hospital S. João, Alameda Pr. H. Monteiro, 4200-319 Porto, Portugal.

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http://dx.doi.org/10.1684/ejd.2011.1361DOI Listing
December 2011

Vascular Ehlers-Danlos syndrome: a case with fatal outcome.

Dermatol Online J 2011 Apr 15;17(4). Epub 2011 Apr 15.

Department of Dermatovenereology, Hospital S. João, Porto, Portugal.

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April 2011

Single-test parallel assessment of multiple genetic disorders.

Per Med 2011 May;8(3):375-379

Institute of Genomic Medicine, UMDNJ-New Jersey Medical School, 185 South Orange Avenue, MSB F661, Newark, NJ 07101, USA.

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http://dx.doi.org/10.2217/pme.11.23DOI Listing
May 2011

Piebaldism and neurofibromatosis type 1: family report.

Dermatol Online J 2010 Jan 15;16(1):11. Epub 2010 Jan 15.

Department of Dermatology, Hospital de São João, EPE, Porto, Portugal.

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January 2010

[Hereditary pancreatitis in a child].

Acta Med Port 2009 May-Jun;22(3):313-7. Epub 2009 Jul 15.

Hospital Dona Estefânia, Lisboa.

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November 2009

Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.

Eur J Dermatol 2009 Jul-Aug;19(4):333-6. Epub 2009 May 14.

Department of Dermatology and Venereology, Hospital S. João, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal; Faculty of Medicine, University of Porto, Alameda Professor Hernâni Monteiro, 4200-319 Porto, Portugal.

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ej
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http://dx.doi.org/10.1684/ejd.2009.0684DOI Listing
September 2009

Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis.

Life Sci 2004 Dec;76(4):379-84

Departamento de Bioquímica, ICBS, UFRGS, Ramiro Barcelos, 2600- Anexo, CEP 90035-003, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.lfs.2004.09.003DOI Listing
December 2004