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Page 1
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Lindstrand A, et al. Among authors: taylan f. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Among authors: taylan f. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Kämpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O. Kämpe AJ, et al. Among authors: taylan f. J Bone Miner Res. 2017 Dec;32(12):2394-2404. doi: 10.1002/jbmr.3233. Epub 2017 Sep 6. J Bone Miner Res. 2017. PMID: 28777485 Free article.
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.
Hammarsjö A, Wang Z, Vaz R, Taylan F, Sedghi M, Girisha KM, Chitayat D, Neethukrishna K, Shannon P, Godoy R, Gowrishankar K, Lindstrand A, Nasiri J, Baktashian M, Newton PT, Guo L, Hofmeister W, Pettersson M, Chagin AS, Nishimura G, Yan L, Matsumoto N, Nordgren A, Miyake N, Grigelioniene G, Ikegawa S. Hammarsjö A, et al. Among authors: taylan f. Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1. Sci Rep. 2017. PMID: 29138412 Free PMC article.
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.
Järviaho T, Zachariadis V, Tesi B, Chiang S, Bryceson YT, Möttönen M, Niinimäki R, Bang B, Rahikkala E, Taylan F, Uusimaa J, Harila-Saari A, Nordgren A. Järviaho T, et al. Among authors: taylan f. Br J Haematol. 2019 Apr;185(2):354-357. doi: 10.1111/bjh.15494. Epub 2018 Jul 13. Br J Haematol. 2019. PMID: 30004112 Free article. No abstract available.
55 results