Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 4.

Conte, Ivan; Hadfield, Kristen D; Barbato, Sara; Carrella, Sabrina; Pizzo, Mariateresa; Bhat, Rajeshwari S; Carissimo, Annamaria; Karali, Marianthi; Porter, Louise F; Urquhart, Jill; Hateley, Sofie; O'Sullivan, James; Manson, Forbes D C; Neuhauss, Stephan C F; Banfi, Sandro; Black, Graeme C M (2015). MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. Proceedings of the National Academy of Sciences of the United States of America, 112(25):3236-3245.

Porter, Louise F; Gallego-Pinazo, Roberto; Keeling, Catherine L; Kamieniorz, Martyna; Zoppi, Nicoletta; Colombi, Marina; Giunta, Cecilia; Bonshek, Richard; Manson, Forbes D; Black, Graeme C (2015). Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Orphanet Journal of Rare Diseases, 10(145):online.

Rohrbach, Marianne; Spencer, Helen L; Porter, Louise F; Burkitt-Wright, Emma M M; Bürer, Céline; Janecke, Andreas; Bakshi, Madhura; Sillence, David; Al-Hussain, Hailah; Baumgartner, Matthias; Steinmann, Beat; Black, Graeme C M; Manson, Forbes D C; Giunta, Cecilia (2013). ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Molecular Genetics and Metabolism, 109(3):289-295.

Burkitt Wright, Emma M M; Porter, Louise F; Spencer, Helen L; Clayton-Smith, Jill; Au, Leon; Munier, Francis L; Smithson, Sarah; Suri, Mohnish; Rohrbach, Marianne; Manson, Forbes D C; Black, Graeme C M (2013). Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet Journal of Rare Diseases, 8:68.

This list was generated on Wed Jul 24 02:41:17 2019 CEST.