Ralf Krahe - Publications

Affiliations: 
Ohio State University, Columbus, Columbus, OH 
Area:
Pathology, Genetics, Neuroscience Biology

87 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Corrales E, Vásquez M, Zhang B, Santamaría-Ulloa C, Cuenca P, Krahe R, Monckton DG, Morales F. Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. Plos One. 14: e0216407. PMID 31048891 DOI: 10.1371/journal.pone.0216407  0.32
2017 Qian DC, Molfese DL, Jin JL, Titus AJ, He Y, Li Y, Vaissié M, Viswanath H, Baldwin PR, Krahe R, Salas R, Amos CI. Genome-wide imaging association study implicates functional activity and glial homeostasis of the caudate in smoking addiction. Bmc Genomics. 18: 740. PMID 28927378 DOI: 10.1186/s12864-017-4124-5  0.32
2016 Chakraborty S, Vatta M, Bachinski LL, Krahe R, Dlouhy S, Bai S. Molecular Diagnosis of Myotonic Dystrophy. Current Protocols in Human Genetics. 91: 9.29.1-9.29.19. PMID 27727437 DOI: 10.1002/cphg.22  0.32
2015 Chen Q, Zhang L, de Crombrugghe B, Krahe R. Mesenchyme-specific overexpression of nucleolar protein 66 in mice inhibits skeletal growth and bone formation. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 29: 2555-65. PMID 25746793 DOI: 10.1096/fj.14-258970  0.96
2015 Chen Q, Sinha K, Deng JM, Yasuda H, Krahe R, Behringer RR, de Crombrugghe B. Mesenchymal Deletion of Histone Demethylase NO66 in Mice Promotes Bone Formation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 25736226 DOI: 10.1002/jbmr.2494  0.96
2015 Vardanjani HM, Baneshi MR, Haghdoost A, Krahe R. Cancer visibility among iranian familial networks: To what extent can we rely on family history reports? Plos One. 10. DOI: 10.1371/journal.pone.0136038  0.96
2014 Screen M, Jonson PH, Raheem O, Palmio J, Laaksonen R, Lehtimäki T, Sirito M, Krahe R, Hackman P, Udd B. Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions. The American Journal of Pathology. 184: 2322-32. PMID 24907641 DOI: 10.1016/j.ajpath.2014.04.013  0.96
2014 Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, ... ... Krahe R, et al. Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies. Neuromuscular Disorders : Nmd. 24: 227-40. PMID 24332166 DOI: 10.1016/j.nmd.2013.11.001  0.96
2013 Vihola A, Sirito M, Bachinski LL, Raheem O, Screen M, Suominen T, Krahe R, Udd B. Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2. Neuropathology and Applied Neurobiology. 39: 390-405. PMID 22758909 DOI: 10.1111/j.1365-2990.2012.01289.x  0.96
2012 Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. The Lancet. Neurology. 11: 891-905. PMID 22995693 DOI: 10.1016/S1474-4422(12)70204-1  0.96
2012 Izaguirre DI, Zhu W, Hai T, Cheung HC, Krahe R, Cote GJ. PTBP1-dependent regulation of USP5 alternative RNA splicing plays a role in glioblastoma tumorigenesis. Molecular Carcinogenesis. 51: 895-906. PMID 21976412 DOI: 10.1002/mc.20859  0.96
2011 Fang S, Krahe R, Bachinski LL, Zhang B, Amos CI, Strong LC. Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers. Human Genetics. 130: 789-94. PMID 21688173 DOI: 10.1007/s00439-011-1039-0  0.96
2011 Udd B, Meola G, Krahe R, Wansink DG, Bassez G, Kress W, Schoser B, Moxley R. Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 21: 443-50. PMID 21543227 DOI: 10.1016/j.nmd.2011.03.013  0.96
2011 Suominen T, Bachinski LL, Auvinen S, Hackman P, Baggerly KA, Angelini C, Peltonen L, Krahe R, Udd B. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. European Journal of Human Genetics : Ejhg. 19: 776-82. PMID 21364698 DOI: 10.1038/ejhg.2011.23  0.96
2011 Wu CC, Krahe R, Lozano G, Zhang B, Wilson CD, Jo EJ, Amos CI, Shete S, Strong LC. Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome. Human Genetics. 129: 663-73. PMID 21305319 DOI: 10.1007/s00439-011-0957-1  0.96
2011 Richards KL, Zhang B, Sun M, Dong W, Churchill J, Bachinski LL, Wilson CD, Baggerly KA, Yin G, Hayes DN, Wistuba II, Krahe R. Methylation of the candidate biomarker TCF21 is very frequent across a spectrum of early-stage nonsmall cell lung cancers. Cancer. 117: 606-17. PMID 20945327 DOI: 10.1002/cncr.25472  0.96
2010 Bachinski LL, Sirito M, Böhme M, Baggerly KA, Udd B, Krahe R. Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders. Muscle & Nerve. 42: 856-63. PMID 21104860 DOI: 10.1002/mus.21789  0.96
2010 Raheem O, Olufemi SE, Bachinski LL, Vihola A, Sirito M, Holmlund-Hampf J, Haapasalo H, Li YP, Udd B, Krahe R. Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. The American Journal of Pathology. 177: 3025-36. PMID 20971734 DOI: 10.2353/ajpath.2010.100179  0.96
2010 Fang S, Krahe R, Lozano G, Han Y, Chen W, Post SM, Zhang B, Wilson CD, Bachinski LL, Strong LC, Amos CI. Effects of MDM2, MDM4 and TP53 codon 72 polymorphisms on cancer risk in a cohort study of carriers of TP53 germline mutations. Plos One. 5: e10813. PMID 20520810 DOI: 10.1371/journal.pone.0010813  0.96
2010 Sammons MA, Antons AK, Bendjennat M, Udd B, Krahe R, Link AJ. ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2. Plos One. 5: e9301. PMID 20174632 DOI: 10.1371/journal.pone.0009301  0.96
2010 Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, ... Krahe R, et al. Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. Acta Neuropathologica. 119: 465-79. PMID 20066428 DOI: 10.1007/s00401-010-0637-6  0.96
2009 Hu J, He X, Cote GJ, Krahe R. Singular Value Decomposition-based Alternative Splicing Detection. Journal of the American Statistical Association. 104: 944-953. PMID 20305737 DOI: 10.1198/jasa.2009.ap08283  0.96
2009 Salisbury E, Schoser B, Schneider-Gold C, Wang GL, Huichalaf C, Jin B, Sirito M, Sarkar P, Krahe R, Timchenko NA, Timchenko LT. Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. The American Journal of Pathology. 175: 748-62. PMID 19590039 DOI: 10.2353/ajpath.2009.090047  0.96
2009 Lott ST, Chen N, Chandler DS, Yang Q, Wang L, Rodriguez M, Xie H, Balasenthil S, Buchholz TA, Sahin AA, Chaung K, Zhang B, Olufemi SE, Chen J, Adams H, ... ... Krahe R, et al. DEAR1 is a dominant regulator of acinar morphogenesis and an independent predictor of local recurrence-free survival in early-onset breast cancer. Plos Medicine. 6: e1000068. PMID 19536326 DOI: 10.1371/journal.pmed.1000068  0.96
2009 Cheung HC, Hai T, Zhu W, Baggerly KA, Tsavachidis S, Krahe R, Cote GJ. Splicing factors PTBP1 and PTBP2 promote proliferation and migration of glioma cell lines. Brain : a Journal of Neurology. 132: 2277-88. PMID 19506066 DOI: 10.1093/brain/awp153  0.96
2009 Richards KL, Zhang B, Baggerly KA, Colella S, Lang JC, Schuller DE, Krahe R. Genome-wide hypomethylation in head and neck cancer is more pronounced in HPV-negative tumors and is associated with genomic instability. Plos One. 4: e4941. PMID 19293934 DOI: 10.1371/journal.pone.0004941  0.96
2009 Wang Y, Carlton VE, Karlin-Neumann G, Sapolsky R, Zhang L, Moorhead M, Wang ZC, Richardson AL, Warren R, Walther A, Bondy M, Sahin A, Krahe R, Tuna M, Thompson PA, et al. High quality copy number and genotype data from FFPE samples using Molecular Inversion Probe (MIP) microarrays. Bmc Medical Genomics. 2: 8. PMID 19228381 DOI: 10.1186/1755-8794-2-8  0.96
2009 Edwards SF, Sirito M, Krahe R, Sinden RR. A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat. Proceedings of the National Academy of Sciences of the United States of America. 106: 3270-5. PMID 19218442 DOI: 10.1073/pnas.0807699106  0.96
2009 Bachinski LL, Czernuszewicz T, Ramagli LS, Suominen T, Shriver MD, Udd B, Siciliano MJ, Krahe R. Premutation allele pool in myotonic dystrophy type 2. Neurology. 72: 490-7. PMID 19020295 DOI: 10.1212/01.wnl.0000333665.01888.33  0.96
2008 Auvinen S, Suominen T, Hannonen P, Bachinski LL, Krahe R, Udd B. Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. Arthritis and Rheumatism. 58: 3627-31. PMID 18975316 DOI: 10.1002/art.24037  0.96
2008 Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd B. High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. Journal of Neurology. 255: 1731-6. PMID 18807109 DOI: 10.1007/s00415-008-0010-z  0.96
2008 Colella S, Richards KL, Bachinski LL, Baggerly KA, Tsavachidis S, Lang JC, Schuller DE, Krahe R. Molecular signatures of metastasis in head and neck cancer. Head & Neck. 30: 1273-83. PMID 18642293 DOI: 10.1002/hed.20871  0.96
2008 Cheung HC, Baggerly KA, Tsavachidis S, Bachinski LL, Neubauer VL, Nixon TJ, Aldape KD, Cote GJ, Krahe R. Global analysis of aberrant pre-mRNA splicing in glioblastoma using exon expression arrays. Bmc Genomics. 9: 216. PMID 18474104 DOI: 10.1186/1471-2164-9-216  0.96
2007 Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, ... Krahe R, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain : a Journal of Neurology. 130: 1497-506. PMID 17439981 DOI: 10.1093/brain/awm068  0.96
2007 Simeone AM, Nieves-Alicea R, McMurtry VC, Colella S, Krahe R, Tari AM. Cyclooxygenase-2 uses the protein kinase C/ interleukin-8/urokinase-type plasminogen activator pathway to increase the invasiveness of breast cancer cells. International Journal of Oncology. 30: 785-92. PMID 17332916  0.96
2006 Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscular Disorders : Nmd. 16: 403-13. PMID 16684600 DOI: 10.1016/j.nmd.2006.03.010  0.96
2006 Simeone AM, Colella S, Krahe R, Johnson MM, Mora E, Tari AM. N-(4-Hydroxyphenyl)retinamide and nitric oxide pro-drugs exhibit apoptotic and anti-invasive effects against bone metastatic breast cancer cells. Carcinogenesis. 27: 568-77. PMID 16199439 DOI: 10.1093/carcin/bgi233  0.96
2006 Krahe R, Bachinski LL, Udd B. Myotonic dystrophy type 2: Clinical and genetic aspects Genetic Instabilities and Neurological Diseases, Second Edition. 131-150. DOI: 10.1016/B978-012369462-1/50009-0  0.96
2005 Maurage CA, Udd B, Ruchoux MM, Vermersch P, Kalimo H, Krahe R, Delacourte A, Sergeant N. Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. Neurology. 65: 1636-8. PMID 16301494 DOI: 10.1212/01.wnl.0000184585.93864.4e  0.96
2005 Ruteshouser EC, Hendrickson BW, Colella S, Krahe R, Pinto L, Huff V. Genome-wide loss of heterozygosity analysis of WT1-wild-type and WT1-mutant Wilms tumors. Genes, Chromosomes & Cancer. 43: 172-80. PMID 15761866 DOI: 10.1002/gcc.20169  0.96
2005 Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC, Krahe R. Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Research. 65: 427-31. PMID 15695383  0.96
2005 Rotondo G, Sansone V, Cardani R, Mancinelli E, Krahe R, Stangalini D, Meola G. Proximal myotonic dystrophy mimicking progressive muscular atrophy. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 12: 160-1. PMID 15679706 DOI: 10.1111/j.1468-1331.2004.01032.x  0.96
2004 Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology. 63: 1251-7. PMID 15477547  0.96
2004 Grewal RP, Zhang S, Ma W, Rosenberg M, Krahe R. Clinical and genetic analysis of a family with PROMM. Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia. 11: 603-5. PMID 15261229 DOI: 10.1016/j.jocn.2003.09.014  0.96
2004 Tanner SM, Li Z, Bisson R, Acar C, Oner C, Oner R, Cetin M, Abdelaal MA, Ismail EA, Lissens W, Krahe R, Broch H, Gräsbeck R, de la Chapelle A. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Human Mutation. 23: 327-33. PMID 15024727 DOI: 10.1002/humu.20014  0.96
2004 Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscular Disorders : Nmd. 14: 274-83. PMID 15019706 DOI: 10.1016/j.nmd.2004.01.002  0.96
2003 Meola G, Sansone V, Perani D, Scarone S, Cappa S, Dragoni C, Cattaneo E, Cotelli M, Gobbo C, Fazio F, Siciliano G, Mancuso M, Vitelli E, Zhang S, Krahe R, et al. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscular Disorders : Nmd. 13: 813-21. PMID 14678804 DOI: 10.1016/S0960-8966(03)00137-8  0.96
2003 Miller BJ, Wang D, Krahe R, Wright FA. Pooled analysis of loss of heterozygosity in breast cancer: a genome scan provides comparative evidence for multiple tumor suppressors and identifies novel candidate regions. American Journal of Human Genetics. 73: 748-67. PMID 13680524 DOI: 10.1086/378522  0.96
2003 Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, ... ... Krahe R, et al. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. American Journal of Human Genetics. 73: 835-48. PMID 12970845 DOI: 10.1086/378566  0.96
2003 Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, Bassez G, Ricker K. Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 13: 589-96. PMID 12921797 DOI: 10.1016/S0960-8966(03)00092-0  0.96
2003 Colella S, Shen L, Baggerly KA, Issa JP, Krahe R. Sensitive and quantitative universal Pyrosequencing methylation analysis of CpG sites. Biotechniques. 35: 146-50. PMID 12866414  0.96
2003 Auvinen S, Vihola A, Krahe R, Kupila J, Hackman P, Hietaharju A, Udd B. [A new type of myotonic dystrophy]. Duodecim; LääKetieteellinen Aikakauskirja. 119: 707-13. PMID 12806729  0.96
2003 Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforêt P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology. 60: 1854-7. PMID 12796551  0.96
2002 Rantamäki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B. [New adult-onset ataxia in a Finnish family]. Duodecim; LääKetieteellinen Aikakauskirja. 118: 2115-22. PMID 12463002  0.96
2002 Lemon WJ, Palatini JJ, Krahe R, Wright FA. Theoretical and experimental comparisons of gene expression indexes for oligonucleotide arrays. Bioinformatics (Oxford, England). 18: 1470-6. PMID 12424118  0.96
2002 Miano JM, Kitchen CM, Chen J, Maltby KM, Kelly LA, Weiler H, Krahe R, Ashworth LK, Garcia E. Expression of human smooth muscle calponin in transgenic mice revealed with a bacterial artificial chromosome. American Journal of Physiology. Heart and Circulatory Physiology. 282: H1793-803. PMID 11959645 DOI: 10.1152/ajpheart.00875.2001  0.96
2002 Zhang S, Krahe R. Physical and transcript map of a 2-Mb region in Xp22.1 containing candidate genes for X-linked mental retardation and short stature. Genomics. 79: 274-7. PMID 11863356 DOI: 10.1006/geno.2002.6702  0.96
2001 Karacay B, O'Dorisio MS, Kasow K, Hollenback C, Krahe R. Expression and fine mapping of murine vasoactive intestinal peptide receptor 1. Journal of Molecular Neuroscience : Mn. 17: 311-24. PMID 11859927 DOI: 10.1385/JMN:17:3:311  0.96
2001 Barkardottir RB, Sarantaus L, Arason A, Vehmanen P, Bendahl PO, Kainu T, Syrjäkoski K, Krahe R, Huusko P, Pyrhönen S, Holli K, Kallioniemi OP, Egilsson V, Kere J, Nevanlinna H. Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. European Journal of Human Genetics : Ejhg. 9: 773-9. PMID 11781689 DOI: 10.1038/sj.ejhg.5200717  0.96
2001 Rantamäki M, Krahe R, Paetau A, Cormand B, Mononen I, Udd B. Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology. 57: 1043-9. PMID 11571332  0.96
2001 Wright FA, Lemon WJ, Zhao WD, Sears R, Zhuo D, Wang JP, Yang HY, Baer T, Stredney D, Spitzner J, Stutz A, Krahe R, Yuan B. A draft annotation and overview of the human genome. Genome Biology. 2: RESEARCH0025. PMID 11516338  0.96
2001 Rush LJ, Dai Z, Smiraglia DJ, Gao X, Wright FA, Frühwald M, Costello JF, Held WA, Yu L, Krahe R, Kolitz JE, Bloomfield CD, Caligiuri MA, Plass C. Novel methylation targets in de novo acute myeloid leukemia with prevalence of chromosome 11 loci. Blood. 97: 3226-33. PMID 11342453 DOI: 10.1182/blood.V97.10.3226  0.96
2001 Zhuo D, Zhao WD, Wright FA, Yang HY, Wang JP, Sears R, Baer T, Kwon DH, Gordon D, Gibbs S, Dai D, Yang Q, Spitzner J, Krahe R, Stredney D, et al. Assembly, annotation, and integration of UNIGENE clusters into the human genome draft. Genome Research. 11: 904-18. PMID 11337484 DOI: 10.1101/gr.164501  0.96
2001 Pääkkönen K, Sauramo S, Sarantaus L, Vahteristo P, Hartikainen A, Vehmanen P, Ignatius J, Ollikainen V, Kääriäinen H, Vauramo E, Nevanlinna H, Krahe R, Holli K, Kere J. Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population. Genetic Epidemiology. 20: 239-46. PMID 11180449 DOI: 10.1002/1098-2272(200102)20:2<239::AID-GEPI6>3.0.CO;2-Y  0.96
2001 Virtaneva K, Wright FA, Tanner SM, Yuan B, Lemon WJ, Caligiuri MA, Bloomfield CD, de La Chapelle A, Krahe R. Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics. Proceedings of the National Academy of Sciences of the United States of America. 98: 1124-9. PMID 11158605 DOI: 10.1073/pnas.98.3.1124  0.96
2001 Zhuo D, Zhao W, Yang HY, Wang JP, Sears R, Kwon DH, Gordon D, Gibbs S, Dean D, Baer T, Stredney D, Stutz A, Krahe R, Wright F, Yuan B. Physical mapping and functional annotation of 60, 000 human genes Nature Genetics. 27: 98. DOI: 10.1038/87378  0.96
2000 Sarantaus L, Huusko P, Eerola H, Launonen V, Vehmanen P, Rapakko K, Gillanders E, Syrjäkoski K, Kainu T, Vahteristo P, Krahe R, Pääkkönen K, Hartikainen J, Blomqvist C, Löppönen T, et al. Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. European Journal of Human Genetics : Ejhg. 8: 757-63. PMID 11039575 DOI: 10.1038/sj.ejhg.5200529  0.96
2000 Wise DO, Krahe R, Oakley BR. The gamma-tubulin gene family in humans. Genomics. 67: 164-70. PMID 10903841 DOI: 10.1006/geno.2000.6247  0.96
2000 Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK. Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood. 96: 405-9. PMID 10887099  0.96
2000 Frühwald MC, O'Dorisio MS, Rush LJ, Reiter JL, Smiraglia DJ, Wenger G, Costello JF, White PS, Krahe R, Brodeur GM, Plass C. Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon. Journal of Medical Genetics. 37: 501-9. PMID 10882752  0.96
2000 Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. Mutations in KERA, encoding keratocan, cause cornea plana. Nature Genetics. 25: 91-5. PMID 10802664 DOI: 10.1038/75664  0.96
2000 Ashizawa T, Gonzales I, Ohsawa N, Singer RH, Devillers M, Balasubramanyam A, Cooper TA, Khajavi M, Lia-Baldini AS, Miller G, Philips AV, Timchenko LT, Waring J, Yamagata H, Barbet JP, ... ... Krahe R, et al. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) Neurology. 54: 1218-1221. PMID 10746587  0.96
2000 Kourlas PJ, Strout MP, Becknell B, Veronese ML, Croce CM, Theil KS, Krahe R, Ruutu T, Knuutila S, Bloomfield CD, Caligiuri MA. Identification of a gene at 11q23 encoding a guanine nucleotide exchange factor: evidence for its fusion with MLL in acute myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America. 97: 2145-50. PMID 10681437 DOI: 10.1073/pnas.040569197  0.96
1999 Kozyraki R, Fyfe J, Kristiansen M, Gerdes C, Jacobsen C, Cui S, Christensen EI, Aminoff M, de la Chapelle A, Krahe R, Verroust PJ, Moestrup SK. The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nature Medicine. 5: 656-61. PMID 10371504 DOI: 10.1038/9504  0.96
1999 Aminoff M, Carter JE, Chadwick RB, Johnson C, Gräsbeck R, Abdelaal MA, Broch H, Jenner LB, Verroust PJ, Moestrup SK, de la Chapelle A, Krahe R. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nature Genetics. 21: 309-13. PMID 10080186 DOI: 10.1038/6831  0.96
1998 Virtaneva K, Paulin L, Krahe R, de la Chapelle A, Lehesjoki AE. The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online. Human Mutation. 12: 218. PMID 10660338  0.96
1997 Miano JM, Krahe R, Garcia E, Elliott JM, Olson EN. Expression, genomic structure and high resolution mapping to 19p13.2 of the human smooth muscle cell calponin gene. Gene. 197: 215-24. PMID 9332369 DOI: 10.1016/S0378-1119(97)00265-5  0.96
1997 Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H. Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscular Disorders : Nmd. 7: 217-28. PMID 9196902 DOI: 10.1016/S0960-8966(97)00041-2  0.96
1997 Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, et al. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nature Genetics. 15: 393-6. PMID 9090386 DOI: 10.1038/ng0497-393  0.96
1997 Bachinski LL, Abchee A, Durand JB, Roberts R, Krahe R, Hobson GM. Polymorphic trinucleotide repeat in the MEF2A gene at 15q26 is not expanded in familial cardiomyopathies. Molecular and Cellular Probes. 11: 55-8. PMID 9076715 DOI: 10.1006/mcpr.1996.0076  0.96
1996 Abbruzzese C, Krahe R, Liguori M, Tessarolo D, Siciliano MJ, Ashizawa T, Giacanelli M. Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? Journal of Neurology. 243: 715-21. PMID 8923304 DOI: 10.1007/BF00873977  0.96
1996 Iyer GS, Krahe R, Goodwin LA, Doggett NA, Siciliano MJ, Funanage VL, Proujansky R. Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28. Genomics. 34: 143-6. PMID 8661037 DOI: 10.1006/geno.1996.0254  0.96
1995 Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Human Molecular Genetics. 4: 1919-25. PMID 8595416 DOI: 10.1093/hmg/4.10.1919  0.96
1995 Hobson GM, Krahe R, Garcia E, Siciliano MJ, Funanage VL. Regional chromosomal assignments for four members of the MADS domain transcription enhancer factor 2 (MEF2) gene family to human chromosomes 15q26, 19p12, 5q14, and 1q12-q23. Genomics. 29: 704-11. PMID 8575763 DOI: 10.1006/geno.1995.9007  0.96
1995 Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T. De novo myotonic dystrophy mutation in a Nigerian kindred. American Journal of Human Genetics. 56: 1067-74. PMID 7726160  0.96
1995 Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. 28: 1-14. PMID 7590731 DOI: 10.1006/geno.1995.1099  0.96
1993 Bachinski LL, Krahe R, White BF, Wieringa B, Shaw D, Korneluk R, Thompson LH, Johnson K, Siciliano MJ. An informative panel of somatic cell hybrids for physical mapping on human chromosome 19q. American Journal of Human Genetics. 52: 375-87. PMID 8430698  0.96
Show low-probability matches.