Lina Ramos

Lina Ramos

UNVERIFIED PROFILE

Are you Lina Ramos?   Register this Author

Register author
Lina Ramos

Lina Ramos

Publications by authors named "Lina Ramos"

Are you Lina Ramos?   Register this Author

25Publications

976Reads

12Profile Views

Woodhouse-Sakati Syndrome: First report of a Portuguese case.

Am J Med Genet A 2019 Nov 26;179(11):2237-2240. Epub 2019 Jul 26.

Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61303DOI Listing
November 2019

16q22.1 microdeletion and anticipatory guidance.

Am J Med Genet A 2019 Jul 29;179(7):1287-1292. Epub 2019 May 29.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61155DOI Listing
July 2019

Aplasia cutis congenita and amniotic band syndrome: an uncommon association.

BMJ Case Rep 2017 Jan 31;2017. Epub 2017 Jan 31.

Pediatric Hospital of Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2016-218950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5293952PMC
January 2017

Phenotyping GABA transaminase deficiency: a case description and literature review.

J Inherit Metab Dis 2016 09 4;39(5):743-747. Epub 2016 Jul 4.

Centro Hospitalar e Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9951-zDOI Listing
September 2016

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation.

Neurobiol Aging 2016 May 3;41:200.e1-200.e5. Epub 2016 Mar 3.

Neurology Department, Coimbra University Hospital, Coimbra, Portugal; Neurology Department, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2016.02.019DOI Listing
May 2016

Congenital dacryocystocoele with prenatal diagnosis.

BMJ Case Rep 2016 May 10;2016. Epub 2016 May 10.

Department of Neonatology, Maternidade Bissaya Barreto, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://casereports.bmj.com/lookup/doi/10.1136/bcr-2016-21564
Publisher Site
http://dx.doi.org/10.1136/bcr-2016-215641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4885495PMC
May 2016

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

Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.

Mol Cytogenet 2015 26;8:21. Epub 2015 Mar 26.

Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal ; CIMAGO - Center of Investigation on Environment Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal ; CNC - IBILI - Center of Neurosciences - Institute for Biomedical Imaging and Life Sciences, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-015-0123-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399573PMC
April 2015

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Am J Med Genet A 2013 Oct 15;161A(10):2401-6. Epub 2013 Aug 15.

Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36124
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36124DOI Listing
October 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.

View Article

Download full-text PDF

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

Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome.

Eur J Med Genet 2011 May-Jun;54(3):348-50. Epub 2011 Mar 10.

Department of Clinical Genetics, Coimbra Paediatrics Hospital, Coimbra 3000-076, Portugal.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212110003
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2011.02.010DOI Listing
September 2011

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

Superior sternal cleft, supraumbilical midline raphe and haemangiomas in a baby girl with an ostium secundum ASD.

Clin Dysmorphol 2011 Apr;20(2):95-7

Department of Pediatric Cardiology, Hospital Pediátrico de Coimbra - CHC, EPE, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://pdfs.journals.lww.com/clindysmorphol/2011/04000/Super
Web Search
http://dx.doi.org/10.1097/MCD.0b013e3283435199DOI Listing
April 2011

Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.

J Histochem Cytochem 2007 Nov 26;55(11):1123-8. Epub 2007 Jun 26.

Laboratório de Citogenética e Centro de Neurociência e Biologia Celular, Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1369/jhc.7A7244.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957532PMC
November 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2007 Aug;143A(16):1941-9

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31905DOI Listing
August 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2006 Dec;140(23):2631-9

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31366DOI Listing
December 2006

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement.

Prenat Diagn 2005 Apr;25(4):292-5

Department of Paediatric Cardiology, Hospital Pediátrico de Coimbra, Portugal.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1105DOI Listing
April 2005