TY - JOUR AU - Dalgaard, O. Z. PY - 1957 DA - 1957// TI - Bilateral polycystic disease of the kidneys: a follow-up of two hundred and eighty four patients and their families JO - Acta Med Scand VL - 328 ID - Dalgaard1957 ER - TY - JOUR AU - Gabow, P. A. PY - 1993 DA - 1993// TI - Autosomal dominant polycystic kidney disease JO - N Engl J Med VL - 329 UR - https://doi.org/10.1056/NEJM199307293290508 DO - 10.1056/NEJM199307293290508 ID - Gabow1993 ER - TY - JOUR PY - 1994 DA - 1994// TI - The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 JO - Cell VL - 77 UR - https://doi.org/10.1016/0092-8674(94)90137-6 DO - 10.1016/0092-8674(94)90137-6 ID - ref3 ER - TY - JOUR AU - Hughes, J. AU - Ward, C. J. AU - Peral, B. AU - Aspinwall, R. AU - Clark, K. AU - San Millan, J. L. AU - Gamble, V. AU - Harris, P. C. PY - 1995 DA - 1995// TI - The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains JO - Nat Genet VL - 10 UR - https://doi.org/10.1038/ng0695-151 DO - 10.1038/ng0695-151 ID - Hughes1995 ER - TY - JOUR AU - Burn, T. C. AU - Connors, T. D. AU - Dackowski, W. R. AU - Petry, L. R. AU - Van Raay, T. J. AU - Millholland, J. M. AU - Venet, M. AU - Miller, G. AU - Hakim, R. M. AU - Landes, G. M. PY - 1995 DA - 1995// TI - Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium) JO - Hum Mol Genet VL - 4 UR - https://doi.org/10.1093/hmg/4.4.575 DO - 10.1093/hmg/4.4.575 ID - Burn1995 ER - TY - JOUR PY - 1995 DA - 1995// TI - Polycystic kidney disease: the complete structure of the PKD1gene and its protein JO - Cell VL - 81 UR - https://doi.org/10.1016/0092-8674(95)90339-9 DO - 10.1016/0092-8674(95)90339-9 ID - ref6 ER - TY - JOUR AU - Mochizuki, T. AU - Wu, G. AU - Hayashi, T. AU - Xenophontos, S. L. AU - Veldhuisen, B. AU - Saris, J. J. AU - Reynolds, D. M. AU - Cai, Y. AU - Gabow, P. A. AU - Pierides, A. AU - Kimberling, W. J. AU - Breuning, M. H. AU - Deltas, C. C. AU - Peters, D. J. AU - Somlo, S. PY - 1996 DA - 1996// TI - PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein JO - Science VL - 272 UR - https://doi.org/10.1126/science.272.5266.1339 DO - 10.1126/science.272.5266.1339 ID - Mochizuki1996 ER - TY - JOUR AU - Daoust, M. C. AU - Reynolds, D. M. AU - Bichet, D. G. AU - Somlo, S. PY - 1995 DA - 1995// TI - Evidence for a third genetic locus for autosomal dominant polycystic kidney disease JO - Genomics VL - 25 UR - https://doi.org/10.1016/0888-7543(95)80020-M DO - 10.1016/0888-7543(95)80020-M ID - Daoust1995 ER - TY - JOUR AU - Paterson, A. D. AU - Pei, Y. PY - 1999 DA - 1999// TI - PKD3-to be or not to be? JO - Nephrol Dial Transplant VL - 14 UR - https://doi.org/10.1093/ndt/14.12.2965 DO - 10.1093/ndt/14.12.2965 ID - Paterson1999 ER - TY - JOUR AU - Nauli, S. M. AU - Alenghat, F. J. AU - Luo, Y. AU - Williams, E. AU - Vassilev, P. AU - Li, X. AU - Elia, A. E. AU - Lu, W. AU - Brown, E. M. AU - Quinn, S. J. AU - Ingber, D. E. AU - Zhou, J. PY - 2003 DA - 2003// TI - Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells JO - Nat Genet VL - 33 UR - https://doi.org/10.1038/ng1076 DO - 10.1038/ng1076 ID - Nauli2003 ER - TY - JOUR AU - Pei, Y. AU - Paterson, A. D. AU - Wang, K. R. AU - He, N. AU - Hefferton, D. AU - Watnick, T. AU - Germino, G. G. AU - Parfrey, P. AU - Somlo, S. AU - St George-Hyslop, P. PY - 2001 DA - 2001// TI - Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease JO - Am J Hum Genet VL - 68 UR - https://doi.org/10.1086/318188 DO - 10.1086/318188 ID - Pei2001 ER - TY - JOUR AU - Krawczak, M. C. D. PY - 1997 DA - 1997// TI - The Human Gene Mutation Database JO - The Institute of Medical Genetics in Cardiff, The University of Wales College of Medicine, Trends Genet VL - 13 ID - Krawczak1997 ER - TY - JOUR AU - Ding, L. AU - Zhang, S. AU - Qiu, W. AU - Xiao, C. AU - Wu, S. AU - Zhang, G. AU - Cheng, L. PY - 2002 DA - 2002// TI - Novel mutations of PKD1gene in Chinese patients with autosomal dominant polycystic kidney disease JO - Nephrol Dial Transplant VL - 17 UR - https://doi.org/10.1093/ndt/17.1.75 DO - 10.1093/ndt/17.1.75 ID - Ding2002 ER - TY - JOUR AU - Eo, H. S. AU - Lee, J. G. AU - Ahn, C. AU - Cho, J. T. AU - Hwang, D. Y. AU - Hwang, Y. H. AU - Lee, E. J. AU - Kim, Y. S. AU - Han, J. S. AU - Kim, S. AU - Lee, J. S. AU - Jeoung, D. I. AU - Lee, S. E. AU - Kim, U. K. PY - 2002 DA - 2002// TI - Three novel mutations of the PKD1gene in Korean patients with autosomal dominant polycystic kidney disease JO - Clin Genet VL - 62 UR - https://doi.org/10.1034/j.1399-0004.2002.620211.x DO - 10.1034/j.1399-0004.2002.620211.x ID - Eo2002 ER - TY - JOUR AU - Rossetti, S. AU - Chauveau, D. AU - Walker, D. AU - Saggar-Malik, A. AU - Winearls, C. G. AU - Torres, V. E. AU - Harris, P. C. PY - 2002 DA - 2002// TI - A complete mutation screen of the ADPKDgenes by DHPLC JO - Kidney Int VL - 61 UR - https://doi.org/10.1046/j.1523-1755.2002.00326.x DO - 10.1046/j.1523-1755.2002.00326.x ID - Rossetti2002 ER - TY - JOUR AU - Rossetti, S. AU - Burton, S. AU - Strmecki, L. AU - Pond, G. R. AU - San Millan, J. L. AU - Zerres, K. AU - Barratt, T. M. AU - Ozen, S. AU - Torres, V. E. AU - Bergstralh, E. J. AU - Winearls, C. G. AU - Harris, P. C. PY - 2002 DA - 2002// TI - The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease JO - J Am Soc Nephrol VL - 13 UR - https://doi.org/10.1097/01.ASN.0000013300.11876.37 DO - 10.1097/01.ASN.0000013300.11876.37 ID - Rossetti2002 ER - TY - JOUR AU - Bogdanova, N. AU - Markoff, A. AU - Gerke, V. AU - McCluskey, M. AU - Horst, J. AU - Dworniczak, B. PY - 2001 DA - 2001// TI - Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes JO - Genomics VL - 74 UR - https://doi.org/10.1006/geno.2001.6568 DO - 10.1006/geno.2001.6568 ID - Bogdanova2001 ER - TY - JOUR AU - Thongnoppakhun, W. AU - Wilairat, P. AU - Vareesangthip, K. AU - Yenchitsomanus, P. T. PY - 1999 DA - 1999// TI - Long RT-PCR Amplification of the entire coding sequence of the polycystic kidney disease 1 (PKD1) gene JO - Biotechniques VL - 26 ID - Thongnoppakhun1999 ER - TY - JOUR AU - Thongnoppakhun, W. AU - Rungroj, N. AU - Wilairat, P. AU - Vareesangthip, K. AU - Sirinavin, C. AU - Yenchitsomanus, P. T. PY - 2000 DA - 2000// TI - A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript JO - Hum Mutat VL - 15 UR - https://doi.org/3.0.CO;2-Z DO - 3.0.CO;2-Z ID - Thongnoppakhun2000 ER - TY - JOUR AU - Rungroj, N. AU - Thongnoppakhun, W. AU - Vareesangthip, K. AU - Sirinavin, C. AU - Wilairat, P. AU - Yenchitsomanus, P. T. PY - 2001 DA - 2001// TI - Molecular defect of PKD1gene resulting in abnormal RNA processing in a Thai family JO - J Med Assoc Thai VL - 84 ID - Rungroj2001 ER - TY - JOUR AU - Lee, H. H. AU - Lo, W. J. AU - Choo, K. B. PY - 1992 DA - 1992// TI - Mutational analysis by a combined application of the multiple restriction fragment-single strand conformation polymorphism and the direct linear amplification DNA sequencing protocols JO - Anal Biochem VL - 205 UR - https://doi.org/10.1016/0003-2697(92)90437-C DO - 10.1016/0003-2697(92)90437-C ID - Lee1992 ER - TY - JOUR AU - Ravine, D. AU - Gibson, R. N. AU - Walker, R. G. AU - Sheffield, L. J. AU - Kincaid-Smith, P. AU - Danks, D. M. PY - 1994 DA - 1994// TI - Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1 JO - Lancet VL - 343 UR - https://doi.org/10.1016/S0140-6736(94)92026-5 DO - 10.1016/S0140-6736(94)92026-5 ID - Ravine1994 ER - TY - JOUR AU - Beidler, J. L. AU - Hilliard, P. R. AU - Rill, R. L. PY - 1982 DA - 1982// TI - Ultrasensitive staining of nucleic acids with silver JO - Anal Biochem VL - 126 UR - https://doi.org/10.1016/0003-2697(82)90530-9 DO - 10.1016/0003-2697(82)90530-9 ID - Beidler1982 ER - TY - JOUR AU - Watnick, T. AU - Phakdeekitcharoen, B. AU - Johnson, A. AU - Gandolph, M. AU - Wang, M. AU - Briefel, G. AU - Klinger, K. W. AU - Kimberling, W. AU - Gabow, P. AU - Germino, G. G. PY - 1999 DA - 1999// TI - Mutation detection of PKD1identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease JO - Am J Hum Genet VL - 65 UR - https://doi.org/10.1086/302657 DO - 10.1086/302657 ID - Watnick1999 ER - TY - JOUR AU - Burtey, S. AU - Lossi, A. M. AU - Bayle, J. AU - Berland, Y. AU - Fontes, M. PY - 2002 DA - 2002// TI - Mutation screening of the PKD1transcript by RT-PCR JO - J Med Genet VL - 39 UR - https://doi.org/10.1136/jmg.39.6.422 DO - 10.1136/jmg.39.6.422 ID - Burtey2002 ER - TY - JOUR AU - Peral, B. AU - Gamble, V. AU - Strong, C. AU - Ong, A. C. AU - Sloane-Stanley, J. AU - Zerres, K. AU - Winearls, C. G. AU - Harris, P. C. PY - 1997 DA - 1997// TI - Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach JO - Am J Hum Genet VL - 60 UR - https://doi.org/10.1086/515467 DO - 10.1086/515467 ID - Peral1997 ER - TY - JOUR AU - Rossetti, S. AU - Strmecki, L. AU - Gamble, V. AU - Burton, S. AU - Sneddon, V. AU - Peral, B. AU - Roy, S. AU - Bakkaloglu, A. AU - Komel, R. AU - Winearls, C. G. AU - Harris, P. C. PY - 2001 DA - 2001// TI - Mutation analysis of the entire PKD1gene: genetic and diagnostic implications JO - Am J Hum Genet VL - 68 UR - https://doi.org/10.1086/316939 DO - 10.1086/316939 ID - Rossetti2001 ER - TY - JOUR AU - Perrichot, R. A. AU - Mercier, B. AU - Simon, P. M. AU - Whebe, B. AU - Cledes, J. AU - Ferec, C. PY - 1999 DA - 1999// TI - DGGE screening of PKD1gene reveals novel mutations in a large cohort of 146 unrelated patients JO - Hum Genet VL - 105 UR - https://doi.org/10.1007/s004390051094 DO - 10.1007/s004390051094 ID - Perrichot1999 ER - TY - JOUR AU - Perrichot, R. AU - Mercier, B. AU - Quere, I. AU - Carre, A. AU - Simon, P. AU - Whebe, B. AU - Cledes, J. AU - Ferec, C. PY - 2000 DA - 2000// TI - Novel mutations in the duplicated region of PKD1gene JO - Eur J Hum Genet VL - 8 UR - https://doi.org/10.1038/sj.ejhg.5200459 DO - 10.1038/sj.ejhg.5200459 ID - Perrichot2000 ER - TY - JOUR AU - Peters, D. J. AU - Ariyurek, Y. AU - van Dijk, M. AU - Breuning, M. H. PY - 2001 DA - 2001// TI - Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE JO - Eur J Hum VL - 9 UR - https://doi.org/10.1038/sj.ejhg.5200756 DO - 10.1038/sj.ejhg.5200756 ID - Peters2001 ER - TY - JOUR AU - Phakdeekitcharoen, B. AU - Watnick, T. J. AU - Ahn, C. AU - Whang, D. Y. AU - Burkhart, B. AU - Germino, G. G. PY - 2000 DA - 2000// TI - Thirteen novel mutations of the replicated region of PKD1in an Asian population JO - Kidney Int VL - 58 UR - https://doi.org/10.1046/j.1523-1755.2000.00302.x DO - 10.1046/j.1523-1755.2000.00302.x ID - Phakdeekitcharoen2000 ER - TY - JOUR AU - Phakdeekitcharoen, B. AU - Watnick, T. J. AU - Germino, G. G. PY - 2001 DA - 2001// TI - Mutation analysis of the entire replicated portion of PKD1using genomic DNA samples JO - J Am Soc Nephrol VL - 12 ID - Phakdeekitcharoen2001 ER - TY - JOUR AU - Thompson, J. D. AU - Higgins, D. G. AU - Gibson, T. J. PY - 1994 DA - 1994// TI - CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice JO - Nucleic Acids Res VL - 22 UR - https://doi.org/10.1093/nar/22.22.4673 DO - 10.1093/nar/22.22.4673 ID - Thompson1994 ER - TY - JOUR AU - Loftus, B. J. AU - Kim, U. J. AU - Sneddon, V. P. AU - Kalush, F. AU - Brandon, R. AU - Fuhrmann, J. AU - Mason, T. AU - Crosby, M. L. AU - Barnstead, M. AU - Cronin, L. AU - Deslattes Mays, A. AU - Cao, Y. AU - Xu, R. X. AU - Kang, H. L. AU - Mitchell, S. AU - Eichler, E. E. AU - Harris, P. C. AU - Venter, J. C. AU - Adams, M. D. PY - 1999 DA - 1999// TI - Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q JO - Genomics VL - 60 UR - https://doi.org/10.1006/geno.1999.5927 DO - 10.1006/geno.1999.5927 ID - Loftus1999 ER - TY - STD TI - The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/5/2/prepub UR - http://www.biomedcentral.com/1471-2350/5/2/prepub ID - ref35 ER -