Showing items related by title, author, creator and subject.

• Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg anophthalmia) syndrome in humans and mice 

  Rainger, J.; van Beusekom, E.; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Mégarbané, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; van Bokhoven, H.; FitzPatrick, D.R. (Public Library of Science, 2011)

  Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity ...
• Utility of serum DNA and pyrosequencing for the detection of EGFR mutations in non-small cell lung cancer 

  Akca, H.; Demiray, A.; Yaren, A.; Bir, F.; Koseler, A.; Iwakawa, R.; Bagci, G.; Yokota, J. (2013)

  Mutations in the EGFR gene are critical determinants of treatment with EGFR tyrosine kinase inhibitors (TKIs) for non-small cell lung cancer (NSCLC) patients. DNA isolation from tumor samples usually requires surgery; ...
• Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort 

  Guran, T.; Buonocore, F.; Saka, N.; Ozbek, M.N.; Aycan, Z.; Bereket, A.; Bas, F.; Darcan, S.; Bideci, A.; Guven, A.; Demir, K.; Akinci, A.; Buyukinan, M.; Aydin, B.K.; Turan, S.; Agladioglu, S.Y.; Atay, Z.; Abali, Z.Y.; Tarim, O.; Catli, G.; Yuksel, B.; Akcay, T.; Yildiz, M.; Ozen, S.; Doger, E.; Demirbilek, H.; Ucar, A.; Isik, E.; Ozhan, B.; Bolu, S.; Ozgen, I.T.; Suntharalingham, J.P.; Achermann, J.C. (Endocrine Society, 2016)

  Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular ...