Teresa Lourenço

Urinary Tract Effects of HPSE2 Mutations

Helen M. Stuart, Neil Roberts, Emma Hilton et al. · Journal of the American Society of Nephrology · 2014 · 47 citations · Full text

Genome Instability, Protein Function, Developmental Biology +14

Variant Rett syndrome in a girl with a pericentric X‐chromosome inversion leading to epigenetic changes and overexpression of the <i>MECP2</i> gene

José Pedro Vieira, Fátima Lopes, Anabela Silva‐Fernandes et al. · International Journal of Developmental Neuroscience · 2015 · 45 citations · Full text

Deletions within COL11A1in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

Raymon Vijzelaar, Sarah Waller, Abdellatif Errami et al. · BMC Medical Genetics · 2013 · 21 citations · Full text

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

M. Barbosa, Ana Medeira, Teresa Lourenço et al. · Clinical Genetics · 2010 · 20 citations

Arg279trp Mutation, Genetics, Pathology +21

Neonatal Marfan syndrome: a successful early multidisciplinary approach

Marta Perapoch Amadó, María Calado, Teresa Lourenço · BMJ Case Reports · 2014 · 18 citations · Full text

Ominous Prognosis, Marfan Syndrome, Neonatology +13