TY - JOUR AU - Bamshad, M. AU - Heest, A. E. AU - Pleasure, D. PY - 2009 DA - 2009// TI - Arthrogryposis: a review and update JO - J Bone Joint Surg Am VL - 91 UR - https://doi.org/10.2106/JBJS.I.00281 DO - 10.2106/JBJS.I.00281 ID - Bamshad2009 ER - TY - JOUR AU - Shupe, J. L. AU - James, L. F. AU - Balls, L. D. AU - Binns, W. AU - Keeler, R. F. PY - 1967 DA - 1967// TI - A probable hereditary skeletal deformity in Hereford cattle JO - J Hered VL - 58 ID - Shupe1967 ER - TY - JOUR AU - Leipold, H. W. AU - Cates, W. F. AU - Radostits, O. M. AU - Howell, W. E. PY - 1969 DA - 1969// TI - Spinal dysraphism, arthrogryposis and cleft palate in newborn Charolais calves JO - Can Vet J VL - 10 ID - Leipold1969 ER - TY - JOUR AU - Nawrot, P. S. AU - Howell, W. E. AU - Leipold, H. W. PY - 1980 DA - 1980// TI - Arthrogryposis: an inherited defect in newborn calves JO - Aust Vet J VL - 56 UR - https://doi.org/10.1111/j.1751-0813.1980.tb09559.x DO - 10.1111/j.1751-0813.1980.tb09559.x ID - Nawrot1980 ER - TY - STD TI - Beever JE, Marron BM. Screening for arthrogryposis multiplex in bovines. Patent no. US 20110151440 A1 Jun 23, 2011 http://patft.uspto.gov/netacgi/nph-Parser?Sect1=PTO2&Sect2=HITOFF&p=1&u=%2Fnetahtml%2FPTO%2Fsearch-bool.html&r=1&f=G&l=50&co1=AND&d=PTXT&s1=%22Screening+arthrogryposis+multiplex+bovines%22.TI.&OS=TTL/. Assessed 15 March, 2016. UR - http://patft.uspto.gov/netacgi/nph-Parser?Sect1=PTO2&Sect2=HITOFF&p=1&u=%2Fnetahtml%2FPTO%2Fsearch-bool.html&r=1&f=G&l=50&co1=AND&d=PTXT&s1=%22Screening+arthrogryposis+multiplex+bovines%22.TI.&OS=TTL/ ID - ref5 ER - TY - JOUR AU - Windsor, P. AU - Kessell, A. AU - Finnie, J. PY - 2011 DA - 2011// TI - Neurological diseases of ruminant livestock in Australia. V: congenital neurogenetic disorders of cattle JO - Aust Vet J VL - 89 UR - https://doi.org/10.1111/j.1751-0813.2011.00826.x DO - 10.1111/j.1751-0813.2011.00826.x ID - Windsor2011 ER - TY - JOUR AU - Testoni, S. AU - Gentile, A. PY - 2004 DA - 2004// TI - Arachnomelia in four Italian brown calves JO - Vet Rec VL - 155 UR - https://doi.org/10.1136/vr.155.12.372 DO - 10.1136/vr.155.12.372 ID - Testoni2004 ER - TY - JOUR AU - Buitkamp, J. AU - Luntz, B. AU - Emmerling, R. AU - Reichenbach, H. D. AU - Weppert, M. AU - Schade, B. PY - 2008 DA - 2008// TI - Syndrome of arachnomelia in Simmental cattle JO - BMC Vet Res VL - 4 UR - https://doi.org/10.1186/1746-6148-4-39 DO - 10.1186/1746-6148-4-39 ID - Buitkamp2008 ER - TY - JOUR AU - Citek, J. PY - 2012 DA - 2012// TI - Pedigree analysis of Czech Holstein calves with schistosoma reflexum JO - Acta Vet Scand VL - 54 UR - https://doi.org/10.1186/1751-0147-54-22 DO - 10.1186/1751-0147-54-22 ID - Citek2012 ER - TY - JOUR AU - Hall, J. G. PY - 2014 DA - 2014// TI - Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles JO - Eur J Med Genet VL - 57 UR - https://doi.org/10.1016/j.ejmg.2014.03.008 DO - 10.1016/j.ejmg.2014.03.008 ID - Hall2014 ER - TY - JOUR AU - Gordon, N. PY - 1998 DA - 1998// TI - Arthrogryposis multiplex congenita JO - Brain Dev VL - 20 UR - https://doi.org/10.1016/S0387-7604(98)00037-0 DO - 10.1016/S0387-7604(98)00037-0 ID - Gordon1998 ER - TY - JOUR AU - Bayrou, C. AU - Garigliany, M. M. AU - Sarlet, M. AU - Sartelet, A. AU - Cassart, D. AU - Desmecht, D. PY - 2014 DA - 2014// TI - Natural intrauterine infection with Schmallenberg virus in malformed newborn calves JO - Emerg Infect Dis VL - 20 UR - https://doi.org/10.3201/eid2008.121890 DO - 10.3201/eid2008.121890 ID - Bayrou2014 ER - TY - STD TI - Peperkamp NH, Luttikholt SJ, Dijkman R, Vos JH, Junker K, Greijdanus S, et al. Ovine and bovine congenital abnormalities associated with intrauterine infection with Schmallenberg virus. Vet Pathol. 2014;52:1057-66. doi: 10.1177/0300985814560231. ID - ref13 ER - TY - JOUR AU - Agerholm, J. S. AU - Basse, A. AU - Christensen, K. PY - 1993 DA - 1993// TI - Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991 JO - Acta Vet Scand VL - 34 ID - Agerholm1993 ER - TY - JOUR AU - Hoffmann, B. M. AU - Scheuch, D. AU - Hoper, R. AU - Jungblut, M. AU - Holsteg, H. AU - Schirrmeier, M. PY - 2012 DA - 2012// TI - Novel orthobunyavirus in cattle, Europe, 2011 JO - Emerg Infect Dis VL - 18 UR - https://doi.org/10.3201/eid1803.111905 DO - 10.3201/eid1803.111905 ID - Hoffmann2012 ER - TY - JOUR AU - Purcell, S. AU - Neale, B. AU - Todd-Brown, K. AU - Thomas, L. AU - Ferreira, M. A. AU - Bender, D. PY - 2007 DA - 2007// TI - PLINK: a tool set for whole-genome association and population-based linkage analyses JO - Am J Hum Genet VL - 81 UR - https://doi.org/10.1086/519795 DO - 10.1086/519795 ID - Purcell2007 ER - TY - JOUR AU - Abecasis, G. R. AU - Cherny, S. S. AU - Cookson, W. O. AU - Cardon, L. R. PY - 2002 DA - 2002// TI - Merlin-rapid analysis of dense genetic maps using sparse gene flow trees JO - Nat Genet VL - 30 UR - https://doi.org/10.1038/ng786 DO - 10.1038/ng786 ID - Abecasis2002 ER - TY - JOUR AU - Elsik, C. G. AU - Tellam, R. L. AU - Worley, K. C. AU - Gibbs, R. A. PY - 2009 DA - 2009// TI - The genome sequence of taurine cattle: a window to ruminant biology and evolution JO - Science VL - 324 UR - https://doi.org/10.1126/science.1169588 DO - 10.1126/science.1169588 ID - Elsik2009 ER - TY - JOUR AU - Murgiano, L. AU - Shirokova, V. AU - Welle, M. M. AU - Jagannathan, V. AU - Plattet, P. AU - Oevermann, A. PY - 2015 DA - 2015// TI - Hairless streaks in cattle implicate TSR2 in early hair follicle formation JO - PLoS Genet VL - 11 UR - https://doi.org/10.1371/journal.pgen.1005427 DO - 10.1371/journal.pgen.1005427 ID - Murgiano2015 ER - TY - JOUR AU - Cingolani, P. AU - Platts, A. AU - Wang, L. L. AU - Coon, M. AU - Nguyen, T. PY - 2012 DA - 2012// TI - A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3 JO - Fly (Austin) VL - 6 UR - https://doi.org/10.4161/fly.19695 DO - 10.4161/fly.19695 ID - Cingolani2012 ER - TY - JOUR AU - Daetwyler, H. D. AU - Capitan, A. AU - Pausch, H. AU - Stothard, P. AU - Binsbergen, R. AU - Brøndum, R. F. PY - 2014 DA - 2014// TI - Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle JO - Nat Genet VL - 46 UR - https://doi.org/10.1038/ng.3034 DO - 10.1038/ng.3034 ID - Daetwyler2014 ER - TY - JOUR AU - Maselli, R. A. AU - Fernandez, J. M. AU - Arredondo, J. AU - Navarro, C. AU - Ngo, M. AU - Beeson, D. PY - 2012 DA - 2012// TI - LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin JO - Hum Genet VL - 131 UR - https://doi.org/10.1007/s00439-011-1132-4 DO - 10.1007/s00439-011-1132-4 ID - Maselli2012 ER - TY - JOUR AU - Miyazawa, A. AU - Fujiyoshi, Y. AU - Unwin, N. PY - 2003 DA - 2003// TI - Structure and gating mechanism of the acetylcholine receptor pore JO - Nature VL - 423 UR - https://doi.org/10.1038/nature01748 DO - 10.1038/nature01748 ID - Miyazawa2003 ER - TY - JOUR AU - Engel, A. G. AU - Shen, X. M. AU - Selcen, D. AU - Sine, S. M. PY - 2015 DA - 2015// TI - Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment JO - Lancet Neurol VL - 14 UR - https://doi.org/10.1016/S1474-4422(14)70201-7 DO - 10.1016/S1474-4422(14)70201-7 ID - Engel2015 ER - TY - JOUR AU - Ohno, K. AU - Quiram, P. A. AU - Milone, M. AU - Wang, H. L. AU - Harper, M. C. AU - Pruitt, J. N. PY - 1997 DA - 1997// TI - Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations JO - Hum Mol Genet VL - 6 UR - https://doi.org/10.1093/hmg/6.5.753 DO - 10.1093/hmg/6.5.753 ID - Ohno1997 ER - TY - JOUR AU - Friese, M. B. AU - Blagden, C. S. AU - Burden, S. J. PY - 2007 DA - 2007// TI - Synaptic differentiation is defective in mice lacking acetylcholine receptor beta-subunit tyrosine phosphorylation JO - Development VL - 134 UR - https://doi.org/10.1242/dev.010702 DO - 10.1242/dev.010702 ID - Friese2007 ER - TY - JOUR AU - Surks, H. K. AU - Richards, C. T. AU - Mendelsohn, M. E. PY - 2003 DA - 2003// TI - Myosin phosphatase-Rho interacting protein. A new member of the myosin phosphatase complex that directly binds RhoA JO - J Biol Chem VL - 278 UR - https://doi.org/10.1074/jbc.M305622200 DO - 10.1074/jbc.M305622200 ID - Surks2003 ER - TY - JOUR AU - Ono, R. AU - Matsuoka, J. AU - Yamatsuji, T. AU - Naomoto, Y. AU - Tanaka, N. AU - Matsui, H. AU - Matsushita, M. PY - 2008 DA - 2008// TI - M-RIP, a novel target of JNK signaling and a requirement for human cancer cell invasion JO - Int J Mol Med VL - 22 ID - Ono2008 ER - TY - JOUR AU - Charlier, C. AU - Coppieters, W. AU - Rollin, F. AU - Desmecht, D. AU - Agerholm, J. S. AU - Cambisano, N. PY - 2008 DA - 2008// TI - Highly effective SNP-based association mapping and management of recessive defects in livestock JO - Nat Genet VL - 40 UR - https://doi.org/10.1038/ng.96 DO - 10.1038/ng.96 ID - Charlier2008 ER -