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 Browse by Socio-Economic Objective (1998) The SEO Classification allows R&D data to be classified according to the researcher's perceived purpose. The purpose categories take account of processes, products, health, education and other social and environmental aspects of particular interest. -> Division 3 - Society -> 730000 - Health -> 730100 Clinical (Organs, Diseases and Abnormal Conditions) -> 730107 Inherited diseases (incl. gene therapy) :

No further child subject classifications could be found.
  Abstract Views File Downloads Thomson Reuters Web of Science Citation Count Scopus Citation Count Altmetric Score
Harden, K. P., Lynch, S. K., Turkheimer, E., Emery, R. E., D'Onofrio, B. M., Slutske, W. S., Waldron, M. D., Statham, D. J. and Martin, N. G. (2007) A behavior genetic investigation of adolescent motherhood and offspring mental health problems. Journal of Abnormal Psychology, 116 4: 667-683. doi:10.1037/0021-843X.116.4.667 431   31 Cited 34 times in Scopus34 0
Heath, Andrew C., Knopik, Valerie S., Madden, Pamela A., Neuman, Rosalind J., Lynskey, Michael J., Slutske, Wendy S., Jacob, Theodore and Martin, Nicholas G. (2003) Accuracy of Mothers' Retrospective Reports of Smoking During Pregnancy: Comparison with Twin Sister Informant Ratings. Twin Research, 6 4: 297-301. doi:10.1375/136905203322296656 129   28 Cited 30 times in Scopus30 0
Brown, L., Davies, N. M. and Steptoe, R. J. (2005). A comparative study of the efficiency of lipolexes, polyplexes and lipid-polycation-DNA complexes for cell transfection. In: E.A. Davis and C.G. Sobey, Program & Abstracts: Joint Meeting of ASCEPT and APSA 2005. Joint Meeting of ASCEPT and APSA, Melbourne, (17). 4-7 Dec. 2005. 94  
Wade, T. D., Gillespie, N. and Martin, N. G. (2007) A comparison of early family life events amongst monozygotic twin women with lifetime anorexia nervosa, bulimia nervosa, or major depression. International Journal of Eating Disorders, 40 8: 679-686. doi:10.1002/eat.20461 155   23 Cited 26 times in Scopus26 0
Treloar, S. A., Wade, T. D. and Martin, N. G. (2001) A comparison of family functioning, temperament, and childhood conditions in monozygotic twin pairs discordant for lifetime bulimia nervosa. American Journal of Psychiatry, 158 7: 1155-1157. doi:10.1176/appi.ajp.158.7.1155 134   13 Cited 18 times in Scopus18 0
Richardson, D. R., Chua, A. G. C. and Baker, E. (1999) Activation of an iron uptake mechanism from transferrin in hepatocytes by small-molecular-weight iron complexes: implications for the pathogenesis of iron-overload disease. Journal of Laboratory and Clinical Medicine, 133 2: 144-151. doi:10.1016/S0022-2143(99)90007-0 40   18 Cited 13 times in Scopus13 0
Montgomery, G. W., Zhao, Z. Z., Marsh, A. J., Mayne, R., Treloar, S. A., James, M., Martin, N. G., Boomsma, D. I. and Duffy, D. L. (2004) A deletion mutation in GDF9 in sisters with spontaneous DZ twins. Twin Research, 7 6: 548-555. doi:10.1375/1369052042663823 98   42 Cited 44 times in Scopus44 0
Whitfield, John B., OBrien, Martin E., Nightingale, Brian N., Zhu, Gu, Heath, Andrew C. and Martin, Nicholas G. (2003) ADH genotype does not modify the effects of alcohol on high-density lipoprotein. Alcoholism-clinical And Experimental Research, 27 3: 509-514. doi:10.1097/01.ALC.0000057940.57330.70 94   20 Cited 22 times in Scopus22 0
Loehlin, J. C. and Martin, N. G. (2001) Age changes in personality traits and their heritabilities during the adult years: evidence from Australian Twin Registry samples. Personality and Individual Differences, 30 7: 1147-1160. doi:10.1016/S0191-8869(00)00099-4 232   25 Cited 29 times in Scopus29 1
Ruf, R. G., Berkman, J., Wolf, M. T. F., Nurnberg, P., Gattas, M., Ruf, E. M., Hyland, V., Kromberg, J., Glass, I., Macmillan, J., Otto, E., Nurnberg, G., Lucke, B., Hennies, H. C. and Hildebrandt, F. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. Journal of Medical Genetics, 40 7: 515-519. doi:10.1136/jmg.40.7.515 51   24 Cited 24 times in Scopus24 3
Shekar, Sri Niranjan, Duffy, David L., Montgomery, Grant W. and Martin, Nicholas G. (2006) A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31. Journal of Investigative Dermatology, 126 2: 277-282. doi:10.1038/sj.jid.5700067 76   1 Cited 1 times in Scopus1 0
Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M. and Martin, N. G. (2004) A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q. Twin Research, 7 2: 197-210. doi:10.1375/136905204323016186 144   79 Cited 87 times in Scopus87 3
Zhu, Gu, Montgomery, Grant W., James, Michael R., Trent, Jeff M., Hayward, Nicholas K., Martin, Nicholas G. and Duffy, David L. (2007) A genome-wide scan for naevus count: Linkage to CDKN2A and to other chromosome regions. European Journal of Human Genetics, 15 1: 94-102. doi:10.1038/sj.ejhg.5201729 104   46 Cited 48 times in Scopus48 0
Luciano, Michelle, Lind, Penelope A., Duffy, David L., Castles, Anne, Wright, Margaret J., Montgomery, Grant W., Martin, Nicholas G. and Bates, Timothy C. (2007) A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biological Psychiatry, 62 7: 811-817. doi:10.1016/j.biopsych.2007.03.007 84   53 Cited 53 times in Scopus53 3
Zhang, B., Xia, H.Q., Cleghorn, G., Gobe, G., West, M. and Wei, M.Q. (2001) A high efficient and consistent method for harvesting large volumes of high-titre lentiviral vectors. Gene Therapy, 8 22: 1745-1751. doi:10.1038/sj.gt.3301587 103   34 Cited 35 times in Scopus35 0
Heritage, M., Colliton, R. P., Genin, A., Spinner, N. B., Macmillan, J. and Anderson, G. (1999). Alagille syndrome: identification of mutations in the JAGGED1 gene. In: Journal of Gastroenterology & Hepatology: Abstracts for Australian Gastroenterology Week 1999. Australian Gastroenterology Week 1999, Brisbane, (A115-A115). 4 - 8 Oct,1999. 90  
Nitz, J. C., Burns, Y. R. and Jackson, R. V. (1999) A longitudinal physical profile assessment of skeletal muscle manifestations in myotonic dystrophy. Clinical Rehabilitation, 13 1: 64-73. doi:10.1191/026921599674297570 156   13 Cited 12 times in Scopus12 0
Lea, R. A., Hilton, D. A., MacMillian, J. C. and Griffiths, L. R. (2003) An analysis of clinical characteristics in genetically linked migraine-affected pedigrees. Cephalalgia, 23 8: 808-813. doi:10.1046/j.1468-2982.2003.00578.x 41   3 Cited 3 times in Scopus3 0
Treloar, Susan A., Cooper, Desmond W., Brennecke, Shaun P., Grehan, Madonna M. and Martin, Nicholas G. (2001) An Australian twin study of the genetic basis of preeclampsia and eclampsia. American Journal of Obstetrics And Gynecology, 184 3: 374-381. doi:10.1067/mob.2001.109400 120   35 Cited 46 times in Scopus46 0
Hume, G. E., Fowler, E. V., Lincoln, D., Eri, R., Templeton, D., Florin, T. H., Cavanaugh, J. A. and Radford-Smith, G. (2006) Angiotensinogen and transforming growth factor beta 1 ; novel genes in the pathogenesis of Crohn's disease. Journal of Medical Genetics, 43 10: 1-5. doi:10.1136/jmg.2005.040477 109   13 Cited 16 times in Scopus16 0
Summers, K. M., Xu, D., West, J. A., McGill, J. J., Galbraith, A., Whight, C. M., Brocque, S. L., Nataatmadja, M., Kong, L. K., Dondey, J., Stark, D. and West, M. J. (2004) An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family. Clinical Genetics, 65 1: 66-69. doi:10.1111/j..2004.00186.x 114   7 Cited 7 times in Scopus7 0
Jacob, T., Sher, K. J., Bucholz, K. K., True, W. T., Sirevaag, E. J., Rohrbaugh, J. W., Nelson, E., Neuman, R. J., Todd, R. D., Slutske, W. S., Whitfield, J. B., Kirk, K. M., Martin, N. G., Madden, P. A. F. and Heath, A. C. (2001) An integrative approach for studying the etiology of alcoholism and other addictions. Twin Research, 4 2: 103-118. doi:10.1375/twin.4.2.103 278   0
Vicenzino, B, Cartwright, T and Collins, D (1999) An investigation of stress and pain perception during manual therapy in asymptomatic subjects. European Journal of Pain, 3 1: 13-18. doi:10.1016/S1090-3801(99)90184-2 76   9 Cited 12 times in Scopus12 0
Johnson, MP, Lea, RA, Curtain, RP, MacMillan, JC and Griffiths, LR (2003) An investigation of the 5-HT2C receptor gene as a migraine candidate gene. American Journal of Medical Genetics Part B-neuropsychiatric Genetics, 117B 1: 86-89. doi:10.1002/ajmg.b.10007 50   21 Cited 23 times in Scopus23 0
Gueven, N, Becherel, OJ, Howe, O, Chen, P, Haince, JF, Ouellet, ME, Poirier, GG, Waterhouse, N, Fusser, M, Epe, B, de Murcia, JM, de Murcia, G, McGowan, CH, Parton, R, Mothersill, C, Grattan-Smith, P and Lavin, MF (2007) A novel form of ataxia oculomotor apraxia characterized by oxidative stress and apoptosis resistance. Cell Death And Differentiation, 14 6: 1149-1161. doi:10.1038/sj.cdd.4402116 112   10 Cited 11 times in Scopus11 0
Wray, Naomi R., James, Michael R., Mah, Steven P., Nelson, Matthew, Andrews, Gavin, Sullivan, Patrick F., Montgomery, Grant W., Birley, Andrew J., Braun, Andreas and Martin, Nicholas G. (2007) Anxiety and comorbid measures associated with PLXNA2. Archives of General Psychiatry, 64 3: 318-326. doi:10.1001/archpsyc.64.3.318 104   27 Cited 32 times in Scopus32 3
Olynyk, J. K., Cullen, D. J., Aquilia, S., Rossi, E., Summerville, L. and Powell, L. W. (1999) A population-based study of the clinical expression of the hemochromatosis gene. New England Journal of Medicine, 341 10: 718-724. doi:10.1056/NEJM199909023411002 96   505 Cited 563 times in Scopus563 3
Morley, Katherine I., Medland, Sarah E., Ferreira, Manuel A. R., Lynskey, Michael T., Montgomery, Grant W., Heath, Andrew C., Madden, Pamela A. F. and Martin, Nicholas G. (2006) A possible smoking susceptibility locus on chromosome 11p12: Evidence from sex-limitation linkage analyses in a sample of Australian twin families. Behavior Genetics, 36 1: 87-99. doi:10.1007/s10519-005-9004-0 134   21 Cited 21 times in Scopus21 0
Harris, Janelle L., Jakob, Burkhard, Taucher-Scholz, Gisela, Dianov, Grigory L., Becherel, Olivier J. and Lavin, Martin F. (2009) Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE 1) function together to protect the genome against oxidative damage. Human Molecular Genetics, 18 21: 4102-4117. doi:10.1093/hmg/ddp359 86   35 Cited 37 times in Scopus37 0
Ferreira, Manuel A. R., Visscher, Peter M., Martin, Nicholas G. and Duffy, David L. (2006) A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits. European Journal of Human Genetics, 14 8: 953-962. doi:10.1038/sj.ejhg.5201646 60   7 Cited 7 times in Scopus7 0
Treloar, Susan A., Zhao, Zhen Zhen, Armitage, Trudi, Duffy, David L., Wicks, Jacqueline, O'Connor, Daniel T., Martin, Nicholas G. and Montgomery, Grant W. (2005) Association between polymorphisms in the progesterone receptor gene and endometriosis. Molecular Human Reproduction, 11 9: 641-647. doi:10.1093/molehr/gah221 103 101 21 Cited 23 times in Scopus23 0
Birley, Andrew J., James, Michael R., Dickson, Peter A., Montgomery, Grant W., Heath, Andrew C., Whitfield, John B. and Martin, Nicholas G. (2008) Association of the gastric alcohol dehydrogenase gene Adh7 with variation in alcohol metabolism. Human Molecular Genetics, 17 2: 179-189. doi:10.1093/hmg/ddm295 107   21 Cited 22 times in Scopus22 0
Visscher, Peter M., Medland, Sarah E., Ferreira, Manuel A. R., Morley, Katherine I., Zhu, Gu, Cornes, Belinda K., Montgomery, Grant W. and Martin, Nicholas G. (2006) Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. Plos Genetics, 2 3: 316-325. doi:10.1371/journal.pgen.0020041 134 26 178 Cited 148 times in Scopus148 61
Nitz, J. C., Burns, Y. R., Wuthapanich, N. and Jackson, R. V. (1999) A study of repeated lateral pinch grip in myotonic dystrophy. Physiotherapy Research International, 4 1: 1-11. 116  
Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G. and Sturm, R. A. (2007) A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. American Journal of Human Genetics, 80 2: 241-252. doi:10.1086/510885 139   101 Cited 116 times in Scopus116 6
Khanna, KK, Lavin, MF, Jackson, SP and Mulhern, TD (2001) ATM, a central controller of cellular responses to DNA damage. Cell Death And Differentiation, 8 11: 1052-1065. doi:10.1038/sj.cdd.4400874 60   128 Cited 147 times in Scopus147 0
Lavin, MF and Kozlov, S (2007) ATM activation and DNA damage response. Cell Cycle, 6 8: 931-942. doi:10.4161/cc.6.8.4180 85   205 Cited 208 times in Scopus208 0
Lavin, M. F., Delia, D. and Chessa, L. (2006) ATM and the DNA damage response - Workshop on ataxia-telangiectasia and related syndromes. Embo Reports, 7 2: 154-160. doi:10.1038/sj.embor.7400629 63   24 Cited 26 times in Scopus26 0
Gatei, M., Young, D., Cerosaletti, K. M., Desai-Mehta, A., Spring, K., Kozlov, S., Lavin, M. F., Gatti, R. A., Concannon, P. and Khanna, K. (2000) ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nature Genetics, 25 1: 115-119. 66   358
Birrell, G. W., Kneebone, K., Nefedov, M., Nefedova, E., Jartsev, M. N., Mitsui, M., Gatti, R. A. and Lavin, M. F. (2005) ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia. Human Mutation, 25 6: 593-593. doi:10.1002/humu.9341 51   Cited 11 times in Scopus11 0
Lavin, Martin F., Birrell, Geoff, Chen, Philip, Kozlov, Sergei, Scott, Shaun and Gueven, Nuri (2005) ATM signaling and genornic stability in response to DNA damage. Mutation Research-fundamental And Molecular Mechanisms of Mutagenesis, 569 1-2: 123-132. doi:10.1016/j.mrfmmm.2004.04.020 107   131 Cited 137 times in Scopus137 0
Lavin, M. F. (1999) ATM: the product of the genemutated in ataxia-telengiectasia. Int Journal of Biochemistry and Cell Biology, 31 7: 735-740. doi:10.1016/S1357-2725(99)00028-X 45   23 Cited 23 times in Scopus23 0
Lavin, M. F. and Khanna, K. K. (1999) ATM: The protein encoded by the gene mutilated in the radio sensitive syndrome ataxia - telangiectasia. International Journal of Radiation Biology, 75 10: 1201-1214. 45   66
Kozlov, Sergei, Gueven, Nuri, Keating, Katherine, Ramsay, Jonathan and Lavin, Martin F. (2003) ATP activates ataxia-telangiectasia mutated (ATM) in vitro - Importance of autophosphorylation. Journal of Biological Chemistry, 278 11: 9309-9317. doi:10.1074/jbc.M300003200 108   57 Cited 58 times in Scopus58 0
Hickie, I. B., Bansal, A. S., Kirk, K. M., Lloyd, A. R. and Martin, N. G. (2001) A twin study of the etiology of prolonged fatigue and immune activation. Twin Research, 4 2: 94-102. doi:10.1375/twin.4.2.94 69   0
Hickman, P. E., Hourigan, L. F., Powell, L. W. and Crawford, D. H. (1999). Automated measurement of unsaturated iron binding capcity is an effective screening strategy for C282Y homozygous hemochromatosis. In: World Congress on Iron Metabolism. Bioiron'99, Sorrento Palace, Sorrento - Naples, Italy, (72). 23 - 28 May 1999. 62  
Withers, S., Summers, K. M. and Gole, G. A. (1999) Autosomal dominant cataracts and Peters anomaly in a large Australian family. Clinical Genetics, 55 4: 240-247. doi:10.1034/j.1399-0004.1999.550405.x 139   12 Cited 18 times in Scopus18 0
Shifman, S., Bhomra, A., Smiley, S., Wray, N. R., James, M. R., Martin, N. G., Hettema, J. M., An, S. S., Neale, M. C., van den Oord, E. J., Kendler, K. S., Chen, X., Boomsma, D. I., Middeldorp, C. M., Hottenga, J. J., Slagboom, P. E. and Flint, J. (2008) A whole genome association study of neuroticism using DNA pooling. Molecular Psychiatry, 13 3: 302-312. doi:10.1038/sj.mp.4002048 65   86 Cited 93 times in Scopus93 8
Brown, A. L. and Kay, G. F. (1999) Bex1, a gene with increased expression in parthenogenetic embryos, is a member of a novel gene family on the mouse X chromosome. Human Molecular Genetics, 8 4: 611-619. doi:10.1093/hmg/8.4.611 50   42 0
Wu, YG, Chen, WY, Zhang, ZW, Yang, GZ, Li, W and Duggleby, RG (2003) Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1 alpha subunit. Journal of Inherited Metabolic Disease, 26 7: 671-674. doi:10.1023/B:BOLI.0000005628.16515.01 44   0 Cited 1 times in Scopus1 0

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