Publications by authors named "Eduardo D Silva"

19Publications

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.

Am J Med Genet A 2017 06 21;173(6):1607-1610. Epub 2017 Apr 21.

Next-Gen Sequencing Unit, UC-Biotech, Cantanhede, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.38234DOI Listing
June 2017

Cross-cultural validation of a taste test with paper strips.

Eur Arch Otorhinolaryngol 2016 Oct 12;273(10):3407-11. Epub 2016 Apr 12.

Department of Otorhinolaryngology, TU Dresden, Dresden, Germany.

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http://dx.doi.org/10.1007/s00405-016-4037-yDOI Listing
October 2016

Continuing professional development: best practices.

Middle East Afr J Ophthalmol 2014 Apr-Jun;21(2):134-41

Department of Ophthalmology, Neurology and Neurosurgery at University of Cincinnati, Cincinati Eye Institute, Cincinnati, Ohio, United States of America.

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http://www.meajo.org/text.asp?2014/21/2/134/129760
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http://dx.doi.org/10.4103/0974-9233.129760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005177PMC
June 2014

Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficits.

J Neurodev Disord 2014 Feb 21;6(1). Epub 2014 Feb 21.

Visual Neuroscience Laboratory, Institute for Biomedical Imaging and Life Sciences (IBILI), Faculty of Medicine, University of Coimbra, Azinhaga de Santa Comba, Coimbra 3000-548, Portugal.

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http://dx.doi.org/10.1186/1866-1955-6-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3944002PMC
February 2014

Optic pit: novel surgical management of complicated cases.

Retina 2013 Sep;33(8):1708-14

Coimbra Surgical Center, University Hospital of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1097/IAE.0b013e31828e699cDOI Listing
September 2013

Neural correlates of visual integration in Williams syndrome: gamma oscillation patterns in a model of impaired coherence.

Neuropsychologia 2013 Jun 12;51(7):1287-95. Epub 2013 Apr 12.

Visual Neuroscience Laboratory, IBILI, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.neuropsychologia.2013.03.020DOI Listing
June 2013

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities.

J Neurodev Disord 2013 Feb 13;5(1). Epub 2013 Feb 13.

Institute for Biomedical Imaging and Life Sciences, Faculty of Medicine, University of Coimbra, Azinhaga de Santa Comba, Coimbra 3000-548, Portugal.

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http://dx.doi.org/10.1186/1866-1955-5-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599251PMC
February 2013

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism.

Am J Med Genet A 2013 Mar 7;161A(3):589-93. Epub 2013 Feb 7.

Centro Hospitalar e Universitário de Coimbra, Departamento Pediátrico, Serviço de Genética Medica, Coimbra, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.35713DOI Listing
March 2013

Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives.

Invest Ophthalmol Vis Sci 2008 Mar;49(3):1191-9

Visual Neuroscience Laboratory, Centre for Ophthalmology, IBILI (Institute for Biomedical Research on Light and Image), Faculty of Medicine, Coimbra, Portugal.

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http://dx.doi.org/10.1167/iovs.07-1051DOI Listing
March 2008

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.

Eur J Paediatr Neurol 2007 Mar 24;11(2):115-8. Epub 2007 Jan 24.

Biochemistry Institute, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.ejpn.2006.11.015DOI Listing
March 2007