Fabiana Ramos

Fabiana Ramos

UNVERIFIED PROFILE

Are you Fabiana Ramos?   Register this Author

Register author
Fabiana Ramos

Fabiana Ramos

Publications by authors named "Fabiana Ramos"

Are you Fabiana Ramos?   Register this Author

15Publications

376Reads

10Profile Views

X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation.

Ann Allergy Asthma Immunol 2018 03;120(3):328-329

Consulta de Imunodeficiências Primárias, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.anai.2017.12.006DOI Listing
March 2018

Why could a woman have three Trisomy 21 pregnancies? - a case report.

Clin Case Rep 2017 08 15;5(8):1222-1225. Epub 2017 Jun 15.

Department of Obstetrics and Gynecology A Centro Hospitalar e Universitário de Coimbra Coimbra Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ccr3.997DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538204PMC
August 2017

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

J Mol Diagn 2017 07 18;19(4):502-513. Epub 2017 May 18.

Cancer Genetics Group, Portuguese Oncology Institute of Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto, Porto, Portugal; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Biomedical Sciences Institute, University of Porto, Porto, Portugal. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S15251578173025
Publisher Site
http://dx.doi.org/10.1016/j.jmoldx.2017.05.001DOI Listing
July 2017

Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.

Mol Cytogenet 2015 30;8:103. Epub 2015 Dec 30.

Laboratório de Citogenética e Genómica - Faculdade de Medicina, Universidade de Coimbra, Pólo Ciências da Saúde, Sub-Unidade 1 - Piso 2, Azinhaga de Santa Comba, 3000-354 Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal ; Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal ; CNC, IBILI - Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-015-0202-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696247PMC
December 2015

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

Mol Cytogenet 2014 9;7(1):87. Epub 2014 Dec 9.

Cytogenetics and Genomics Laboratory, Faculdade de Medicina da Universidade de Coimbra, Pólo Ciências da Saúde, 3000-548 Coimbra, Portugal ; CIMAGO - Centro de Investigação em Meio Ambiente, Genética e Oncobiologia, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-014-0087-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265458PMC
December 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.

View Article

Download full-text PDF

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

Abnormal brain activation in neurofibromatosis type 1: a link between visual processing and the default mode network.

PLoS One 2012 18;7(6):e38785. Epub 2012 Jun 18.

Visual Neuroscience Laboratory, Institute of Biomedical Research in Light and Image, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0038785PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377684PMC
December 2012

Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.

Invest Ophthalmol Vis Sci 2012 Jan 25;53(1):287-93. Epub 2012 Jan 25.

Visual Neuroscience Laboratory, Institute of Biomedical Research in Light and Image, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.11-8225DOI Listing
January 2012

Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007.

ISRN Obstet Gynecol 2011 8;2011:458120. Epub 2010 Nov 8.

Serviço de Genética Médica, Centro Hospitalar de Coimbra, Avenida Bissaya Barreto, 3000-076 Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5402/2011/458120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102519PMC
July 2011