Ana Medeira

Ana Medeira

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Ana Medeira

Ana Medeira

Publications by authors named "Ana Medeira"

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A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Medicine (Baltimore) 2015 Feb;94(7):e469

From the CICS-UBI, Health Sciences Research Centre, Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal (MIA, MCL); Paediatric Nephrology & Renal Transplantation Unit, Department of Paediatrics, Santa Maria Hospital, Lisbon, Portugal (MR, CS); Department of Radiology, Santa Maria Hospital, Lisbon, Portugal (LL); and Genetics Unit, Department of Paediatrics, Santa Maria Hospital, Lisbon, Portugal (AM, ABS).

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https://insights.ovid.com/crossref?an=00005792-201502030-000
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http://dx.doi.org/10.1097/MD.0000000000000469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554182PMC
February 2015

Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

BMJ Case Rep 2013 Sep 20;2013. Epub 2013 Sep 20.

Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisboa, Portugal.

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http://dx.doi.org/10.1136/bcr-2013-200590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794180PMC
September 2013

A new intellectual disability syndrome with digital anomalies.

Clin Dysmorphol 2012 Oct;21(4):222-5

Genetics Department, Santa Maria Hospital, CHLN, Lisbon, Portugal.

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http://dx.doi.org/10.1097/MCD.0b013e32835701b9DOI Listing
October 2012

Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.

J Pediatr Endocrinol Metab 2012 ;25(3-4):367-70

Serviço de Genética, Hospital de Santa Maria, Lisboa, Portugal.

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http://dx.doi.org/10.1515/jpem-2011-0191DOI Listing
July 2012

A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.

Mutat Res 2009 Mar 6;662(1-2):33-6. Epub 2008 Dec 6.

Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.mrfmmm.2008.12.001DOI Listing
March 2009

Familial stenosis of the pulmonary artery branches with a JAG1 mutation.

Rev Port Cardiol 2006 Apr;25(4):447-52

Serviço de Genética, Hospital de Santa Maria, Lisboa, Portugal.

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April 2006