Publications by authors named "Teresa Lourenço"

9Publications

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report.

Mol Cytogenet 2016 25;9:87. Epub 2016 Nov 25.

Unidade de Citogenética, Departamento de Genética Humana, Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.

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http://dx.doi.org/10.1186/s13039-016-0295-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123314PMC
November 2016

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.

Int J Dev Neurosci 2015 Nov 10;46:82-7. Epub 2015 Aug 10.

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ijdevneu.2015.07.010DOI Listing
November 2015

Neonatal Marfan syndrome: a successful early multidisciplinary approach.

BMJ Case Rep 2014 Jun 13;2014. Epub 2014 Jun 13.

Centro de Genética Clínica e Patologia, Lisboa, Portugal.

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http://dx.doi.org/10.1136/bcr-2013-202438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069814PMC
June 2014

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

BMC Med Genet 2013 Apr 26;14:48. Epub 2013 Apr 26.

East Anglian Regional Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Trust, Cambridge, UK.

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http://dx.doi.org/10.1186/1471-2350-14-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652776PMC
April 2013

First seizure as late presentation of velo-cardio-facial syndrome.

J Pediatr Endocrinol Metab 2013 ;26(3-4):381-3

Department of Pediatrics of H. Dona Estefânia, Centro Hospitalar Lisboa Central, Lisbon, Portugal.

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http://dx.doi.org/10.1515/jpem-2012-0348DOI Listing
August 2013

[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