Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. by Barbara D'haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E Antonarakis, Elfride De Baere

Get full text

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort by Lieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Elfride De Baere

Get full text

P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants by David Curtis, Daryl Scott, Seema Lalani, Mahshid Azamian, Kierstin Keller, Alanna Strong, Joseph Shen, Colette DeFilippo, Himanshu Goel, Betsy Schmalz, Bimal Chaudhari, Shelagh Joss, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Olivia Thompson, Neena Champaigne, Luigi Chiratti, Marco Ferilli, Marco Tartaglia, Manuela Priolo, Radio Clementina, Christelle Achkar, Koen Gassen, Marie-José van den Boogard, Tony Roscioli, Kim McBride, Julie Lauzon, Hannes Syryn, Martine Cools, Elfride De Baere, Victor Faundes, Gabriela Repetto, Sarah Josephi-Taylor, Adam Bournazos, Sandra Cooper, Nichole Owen, Xiaonan Zhao

Get full text

Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. by Olga Gorlova, Jose-Ezequiel Martin, Blanca Rueda, Bobby P C Koeleman, Jun Ying, Maria Teruel, Lina-Marcela Diaz-Gallo, Jasper C Broen, Madelon C Vonk, Carmen P Simeon, Behrooz Z Alizadeh, Marieke J H Coenen, Alexandre E Voskuyl, Annemie J Schuerwegh, Piet L C M van Riel, Marie Vanthuyne, Ruben van 't Slot, Annet Italiaander, Roel A Ophoff, Nicolas Hunzelmann, Vicente Fonollosa, Norberto Ortego-Centeno, Miguel A González-Gay, Francisco J García-Hernández, María F González-Escribano, Paolo Airo, Jacob van Laar, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul G Shiels, Rene Westhovens, Alexander Kreuter, Elfride de Baere, Torsten Witte, Leonid Padyukov, Annika Nordin, Raffaella Scorza, Claudio Lunardi, Benedicte A Lie, Anna-Maria Hoffmann-Vold, Oyvind Palm, Paloma García de la Peña, Patricia Carreira, Spanish Scleroderma Group, John Varga, Monique Hinchcliff, Annette T Lee, Pravitt Gourh, Christopher I Amos, Frederick M Wigley, Laura K Hummers, J Lee Nelson, Gabriella Riemekasten, Ariane Herrick, Lorenzo Beretta, Carmen Fonseca, Christopher P Denton, Peter K Gregersen, Sandeep Agarwal, Shervin Assassi, Filemon K Tan, Frank C Arnett, Timothy R D J Radstake, Maureen D Mayes, Javier Martin

Get full text