HD100CAU
HUMAN VARIATION PANEL
Description:
HUMAN VARIATION PANEL - WHITE PANEL OF 100
Aliquot Size:
10 µg each
Sex:
Males: 51 Females: 49
Brief Description:
The White Panel of 100 consists of samples of 100 self-declared Whites who are unrelated and apparently healthy. There are 49 females and 51 males in this panel. The individual cell cultures of this panel are labeled GM17201 to GM17300 and the DNA samples are labeled NA17201 to NA17300.
Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.
| Liu T, Wang FS, Cheah FSH, Gu Y, Shaw M, Law HY, Tay SKH, Lee CG, Nelson DL, Gecz J, Chong SS, Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR The Journal of molecular diagnostics : JMD: 2020 |
| PubMed ID: 34111553 |
| |
| Paterson DS, Serotonin gene variants are unlikely to play a significant role in the pathogenesis of the sudden infant death syndrome. Respir Physiol Neurobiol.189(2):301-14 2013 |
| PubMed ID: 23851109 |
| |
| Pelleymounter LL, Moon I, Johnson JA, Laederach A, Halvorsen M, Eckloff B, Abo R, Rossetti S, A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: Targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population Molecular genetics and metabolism189(2):301-14 2011 |
| PubMed ID: 21917492 |
| |
| Wu TY, Fridley BL, Jenkins GD, Batzler A, Wang L, Weinshilboum RM, Mycophenolic acid response biomarkers: a cell line model system-based genome-wide screen International immunopharmacology11:1057-64 2011 |
| PubMed ID: 21396482 |
| |
| Cresci S, Huss JM, Beitelshees AL, Jones PG, Minton MR, Dorn GW, Kelly DP, Spertus JA, McLeod HL, A PPARa promoter variant impairs ERR-dependent transactivation and decreases mortality after acute coronary ischemia in patients with diabetes PloS one5:e12584 2010 |
| PubMed ID: 20838448 |
| |
| Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A, Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development PloS one6:e22542 2010 |
| PubMed ID: 21799892 |
| |
| Pereira NL, Aksoy P, Moon I, Peng Y, Redfield MM, Burnett JC, Wieben ED, Yee VC, Weinshilboum RM, Natriuretic peptide pharmacogenetics: membrane metallo-endopeptidase (MME): common gene sequence variation, functional characterization and degradation Journal of molecular and cellular cardiology49:864-74 2010 |
| PubMed ID: 20692264 |
| |
| Arefayene, M., Philips, S., Cao, D., Mamidipalli, S. Desta, Z., Flockhart, D.A., Wilkes, D.S. and Skaar, T.C., Identification of genetic variants in the human indoleamine 2,3-dioxygenase (IDO1) gene, which have altered enzyme activity Pharmacogenetics and Genomics19:464-476 2009 |
| PubMed ID: 19514129 |
| |
| Broadbelt, K.G., Barger, M.A., Paterson, D.S., Holm, I.A., Haas, E.A., Krous, H.F., Kinney, H.C., Markianos, K. and Beggs, A.H., Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population Pediatric Research66(6):631-35 2009 |
| PubMed ID: 19707175 |
| |
| Bush, W.S., Crawford, D.C., Alexander, C., George, A.L., Roden, D.M., and Ritchie, M.D., Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias Pharmacogenomics10(6):1043-53 2009 |
| PubMed ID: 19530973 |
| |
| Fridley BL, Jenkins G, Deyo-Svendsen ME, Hebbring S, Freimuth R, Utilizing genotype imputation for the augmentation of sequence data PloS one5:e11018 2009 |
| PubMed ID: 20543988 |
| |
| Kocabas NA, Aksoy P, Pelleymounter LL, Moon I, Ryu JS, Gilbert JA, Salavaggione OE, Eckloff BW, Wieben ED, Yee V, Weinshilboum RM, Ames MM, Gemcitabine Pharmacogenomics: Deoxycytidine Kinase (DCK) and Cytidylate Kinase (CMPK) Gene Resequencing and Functional Genomics Drug metabolism and disposition: the biological fate of chemicals5:e11018 2008 |
| PubMed ID: 18556440 |
| |
| Moyer AM, Salavaggione OE, Wu TY, Moon I, Eckloff BW, Hildebrandt MA, Schaid DJ, Wieben ED, Weinshilboum RM, Glutathione s-transferase p1: gene sequence variation and functional genomic studies Cancer research68:4791-801 2008 |
| PubMed ID: 18559526 |
| |
| Tomasson MH, Xiang Z, Walgren R, Zhao Y, Kasai Y, Miner T, Ries RE, Lubman O, Fremont DH, McLellan MD, Payton JE, Westervelt P, DiPersio JF, Link DC, Walter MJ, Graubert TA, Watson M, Baty J, Heath S, Shannon WD, Nagarajan R, Bloomfield CD, Mardis ER, Wilson RK, Ley TJ, Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia Blood111:4797-808 2008 |
| PubMed ID: 18270328 |
| |
| Wang L, Kumar S, Fridley BL, Kalari KR, Moon I, Pelleymounter LL, Hildebrandt MA, Batzler A, Eckloff BW, Wieben ED, Greipp PR, Proteasome {beta} Subunit Pharmacogenomics: Gene Resequencing and Functional Genomics Clinical cancer research : an official journal of the American Association for Cancer Research14:3503-3513 2008 |
| PubMed ID: 18519783 |
| |
| Bigler J, Sibert JG, Poole EM, Carlson CS, Potter JD, Ulrich CM, Polymorphisms predicted to alter function in prostaglandin E2 synthase and prostaglandin E2 receptors Pharmacogenetics and genomics17:221-7 2007 |
| PubMed ID: 17460551 |
| |
| Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS, Mutations in the SBDS gene in acquired aplastic anemia mutation17:221-7 2007 |
| PubMed ID: 17478638 |
| |
| Ji Y, Moon I, Zlatkovic J, Salavaggione OE, Thomae BA, Eckloff BW, Wieben ED, Schaid DJ, Weinshilboum RM, Human Hydroxysteroid Sulfotransferase SULT2B1 Pharmacogenomics: Gene Sequence Variation and Functional Genomics Journal of pharmacology and experimental therapeutics17:221-7 2007 |
| PubMed ID: 17496163 |
| |
| Leil TA, Endo C, Adjei AA, Dy GK, Salavaggione OE, Reid JR, Ames MM, Adjei AA, Identification and characterization of genetic variation in the folylpolyglutamate synthase gene Cancer research67:8772-82 2007 |
| PubMed ID: 17875718 |
| |
| Moyer AM, Salavaggione OE, Hebbring SJ, Moon I, Hildebrandt MA, Eckloff BW, Schaid DJ, Wieben ED, Weinshilboum RM, Glutathione S-transferase T1 and M1: gene sequence variation and functional genomics Clinical cancer research : an official journal of the American Association for Cancer Research13:7207-16 2007 |
| PubMed ID: 18056202 |
| |
| Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ, Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome Circulation116:2253-9 2007 |
| PubMed ID: 17967976 |
| |
| Dalal D, Molin LH, Piccini J, Tichnell C, James C, Bomma C, Prakasa K, Towbin JA, Marcus FI, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP, Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2 Circulation113:1641-9 2006 |
| PubMed ID: 16549640 |
| |
| Gilbert JA, Salavaggione OE, Ji Y, Pelleymounter LL, Eckloff BW, Wieben ED, Ames MM, Weinshilboum RM, Gemcitabine pharmacogenomics: cytidine deaminase and deoxycytidylate deaminase gene resequencing and functional genomics Clinical cancer research : an official journal of the American Association for Cancer Research12:1794-803 2006 |
| PubMed ID: 16551864 |
| |
| Hebbring SJ, Adjei AA, Baer JL, Jenkins GD, Zhang J, Cunningham JM, Schaid DJ, Weinshilboum RM, Thibodeau SN, Human SULT1A1 gene: copy number differences and functional implications Human molecular genetics16:463-70 2006 |
| PubMed ID: 17189289 |
| |
| Martin YN, Salavaggione OE, Eckloff BW, Wieben ED, Schaid DJ, Weinshilboum RM, Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics Pharmacogenetics and genomics16:265-77 2006 |
| PubMed ID: 16538173 |
| |
| Wang B, Ngoi S, Wang J, Chong SS, Lee CG, The promoter region of the MDR1 gene is largely invariant, but different single nucleotide polymorphism haplotypes affect MDR1 promoter activity differently in different cell lines Molecular pharmacology70:267-76 2006 |
| PubMed ID: 16608921 |
| |
| Wood TC, Salavagionne OE, Mukherjee B, Wang L, Klumpp AF, Thomae BA, Eckloff BW, Schaid DJ, Wieben ED, Weinshilboum RM, Human arsenic methyltransferase (AS3MT) pharmacogenetics: gene resequencing and functional genomics studies The Journal of biological chemistry281:7364-73 2006 |
| PubMed ID: 16407288 |
| |
| Anderle P, Nielsen CU, Pinsonneault J, Krog PL, Brodin B, Sadée W, Genetic variants of the human dipeptide transporter PEPT1 The Journal of pharmacology and experimental therapeutics316:636-46 2005 |
| PubMed ID: 16258023 |
| |
| Damaraju S, Zhang J, Visser F, Tackaberry T, Dufour J, Smith KM, Slugoski M, Ritzel MW, Baldwin SA, Young JD, Cass CE, Identification and functional characterization of variants in human concentrative nucleoside transporter 3, hCNT3 (SLC28A3), arising from single nucleotide polymorphisms in coding regions of the hCNT3 gene. Pharmacogenet Genomics15(3):173-82 2005 |
| PubMed ID: 15861042 |
| |
| Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY, Polymorphism discovery in 51 chemotherapy pathway genes Human molecular genetics14:3595-603 2005 |
| PubMed ID: 16239245 |
| |
| Hamilton SP, Woo JM, Carlson EJ, Ghanem N, Ekker M, Rubenstein JL, Analysis of four DLX homeobox genes in autistic probands BMC genetics [electronic resource]6:52 2005 |
| PubMed ID: 16266434 |
| |
| Ji Y, Salavaggione OE, Wang L, Adjei AA, Eckloff B, Wieben ED, Weinshilboum RM, Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics Journal of neurochemistry95:1766-76 2005 |
| PubMed ID: 16277617 |
| |
| Lee SJ, Bell DA, Coulter SJ, Ghanayem B, Goldstein JA, Recombinant CYP3A4*17 is defective in metabolizing the hypertensive drug nifedipine, and the CYP3A4*17 allele may occur on the same chromosome as CYP3A5*3, representing a new putative defective CYP3A haplotype The Journal of pharmacology and experimental therapeutics313:302-9 2005 |
| PubMed ID: 15634941 |
| |
| Ma CX, Adjei AA, Salavaggione OE, Coronel J, Pelleymounter L, Wang L, Eckloff BW, Schaid D, Wieben ED, Adjei AA, Weinshilboum RM, Human aromatase: gene resequencing and functional genomics. Cancer Res65(23):11071-82 2005 |
| PubMed ID: 16322257 |
| |
| Ma S, Abou-Khalil B, Sutcliffe JS, Haines JL, Hedera P, The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. BMC Med Genet6(1):13 2005 |
| PubMed ID: 15799783 |
| |
| O'Leary VB, Mills JL, Parle-McDermott A, Pangilinan F, Molloy AM, Cox C, Weiler A, Conley M, Kirke PN, Scott JM, Brody LC, Birth Defects Research Group LC, Screening for new MTHFR polymorphisms and NTD risk American journal of medical genetics Part A138:99-106 2005 |
| PubMed ID: 16145688 |
| |
| Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, Blough DK, Thummel KE, Veenstra DL, Rettie AE, Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose The New England journal of medicine352:2285-93 2005 |
| PubMed ID: 15930419 |
| |
| Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ, Modification of human hearing loss by plasma-membrane calcium pump PMCA2. N Engl J Med352(15):1557-64 2005 |
| PubMed ID: 15829536 |
| |
| Service S, DeYoung J, Karayiorgou M, Roos JL, Pretorious H, Bedoya G, Ospina J, Ruiz-Linares A, Macedo A, Palha JA, Heutink P, Aulchenko Y, Oostra B, van Duijn C, Jarvelin MR, Varilo T, Peddle L, Rahman P, Piras G, Monne M, Murray S, Galver L, Peltonen L, Sabatti C, Collins A, Freimer N, Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies Nature genetics38:556-60 2005 |
| PubMed ID: 16582909 |
| |
| Tahira T, Baba S, Higasa K, Kukita Y, Suzuki Y, Sugano S, Hayashi K, dbQSNP: a database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods Human mutation26:69-77 2005 |
| PubMed ID: 15977179 |
| |
| Tester DJ, Kopplin LJ, Creighton W, Burke AP, Ackerman MJ, Pathogenesis of unexplained drowning: new insights from a molecular autopsy Mayo Clinic proceedings Mayo Clinic80:596-600 2005 |
| PubMed ID: 15887426 |
| |
| Tian H, Emrich CA, Scherer JR, Mathies RA, Andersen PS, Larsen LA, Christiansen M, High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device Electrophoresis26:1834-42 2005 |
| PubMed ID: 15706574 |
| |
| Van Driest SL, Gakh O, Ommen SR, Isaya G, Ackerman MJ, Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy. Mol Genet Metab85(4):280-5 2005 |
| PubMed ID: 15936968 |
| |
| Wang Z, Wang B, Tang K, Lee EJ, Chong SS, Lee CG, A functional polymorphism within the MRP1 gene locus identified through its genomic signature of positive selection Human molecular genetics14:2075-87 2005 |
| PubMed ID: 15944197 |
| |
| Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS, Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med352(14):1413-24 2005 |
| PubMed ID: 15814878 |
| |
| Yuan HY, Chen JJ, Lee MT, Wung JC, Chen YF, Charng MJ, Lu MJ, Hung CR, Wei CY, Chen CH, Wu JY, Chen YT, A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. Hum Mol Genet14(13):1745-51 2005 |
| PubMed ID: 15888487 |
| |
| Anson BD, Ackerman MJ, Tester DJ, Will ML, Delisle BP, Anderson CL, January CT, Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels American journal of physiology Heart and circulatory physiology286:H2434-41 2004 |
| PubMed ID: 14975928 |
| |
| Dressman MA, Malinowski R, McLean LA, Gathmann I, Capdeville R, Hensley M, Polymeropoulos MH, International Randomized Study of Interferon-alpha versus ST1571 Study Group MH, Correlation of major cytogenetic response with a pharmacogenetic marker in chronic myeloid leukemia patients treated with imatinib (STI571) Clinical cancer research : an official journal of the American Association for Cancer Research10:2265-71 2004 |
| PubMed ID: 15073101 |
| |
| Feng JH, Yamamoto T, Nanba E, Ninomiya H, Oka A, Ohno K, Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation Human mutation23:397 2004 |
| PubMed ID: 15024740 |
| |
| Mori M, Yamada R, Kobayashi K, Kawaida R, Yamamoto K, Ethnic differences in allele frequency of autoimmune-disease-associated SNPs Journal of human genetics50:264-6 2004 |
| PubMed ID: 15883854 |
| |
| Ohmori H, Ando Y, Makita Y, Onouchi Y, Nakajima T, Saraiva MJ, Terazaki H, Suhr O, Sobue G, Nakamura M, Yamaizumi M, Munar-Ques M, Inoue I, Uchino M, Hata A, Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy Journal of medical genetics41:e51 2004 |
| PubMed ID: 15060127 |
| |
| Pinsonneault, J., Nielsen, C.U. and Sadee, W., Genetic variants of the human H+/dipeptide transporter PEPT2: analysis of haplotype functions J Pharmacology and Experimental Therapeutics311:1088-1096 2004 |
| PubMed ID: 15282265 |
| |
| Porton B, Ferreira A, DeLisi LE, Kao HT, A rare polymorphism affects a mitogen-activated protein kinase site in synapsin III: possible relationship to schizophrenia Biological psychiatry55:118-25 2004 |
| PubMed ID: 14732590 |
| |
| Sakagami T, Witherspoon DJ, Nakajima T, Jinnai N, Wooding S, Jorde LB, Hasegawa T, Suzuki E, Gejyo F, Inoue I, Local adaptation and population differentiation at the interleukin 13 and interleukin 4 loci Genes and immunity5:389-97 2004 |
| PubMed ID: 15215888 |
| |
| Shield AJ, Thomae BA, Eckloff BW, Wieben ED, Weinshilboum RM, Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes Molecular psychiatry9:151-60 2004 |
| PubMed ID: 14966473 |
| |
| Stimpson DI, Knepper SM, Shida M, Obata K, Tajima H, Three-dimensional microarray platform applied to single nucleotide polymorphism analysis Biotechnology and bioengineering87:99-103 2004 |
| PubMed ID: 15211493 |
| |
| Tang K, Wong LP, Lee EJ, Chong SS, Lee CG, Genomic evidence for recent positive selection at the human MDR1 gene locus Human molecular genetics13:783-97 2004 |
| PubMed ID: 14976162 |
| |
| Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ, Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy Journal of the American College of Cardiology44:602-10 2004 |
| PubMed ID: 15358028 |
| |
| Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ, Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy Journal of the American College of Cardiology44:1903-10 2004 |
| PubMed ID: 15519027 |
| |
| Adjei AA, Thomae BA, Prondzinski JL, Eckloff BW, Wieben ED, Weinshilboum RM, Human estrogen sulfotransferase (SULT1E1) pharmacogenomics: gene resequencing and functional genomics British journal of pharmacology139:1373-82 2003 |
| PubMed ID: 12922923 |
| |
| Bergen AW, Yeager M, Welch R, Ganjei JK, Deep-Soboslay A, Haque K, van den Bree MB, Goldman D, Berrettini WH, Kaye WH, The Price Foundation Collaborative Group (www.anbn.org) WH, Candidate gene analysis of the Price Foundation anorexia nervosa affected relative pair dataset Current drug targets CNS and neurological disorders2:41-51 2003 |
| PubMed ID: 12769811 |
| |
| Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM, Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet33(1):97-101 2003 |
| PubMed ID: 12496757 |
| |
| Gazzoli I, Kolodner RD, Regulation of the human MSH6 gene by the Sp1 transcription factor and alteration of promoter activity and expression by polymorphisms Molecular and cellular biology23:7992-8007 2003 |
| PubMed ID: 14585961 |
| |
| Glatt CE, Tampilic M, Christie C, DeYoung J, Freimer NB, Re-screening serotonin receptors for genetic variants identifies population and molecular genetic complexity American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics124:92-100 2003 |
| PubMed ID: 14681923 |
| |
| Hardenbol P, Banér J, Jain M, Nilsson M, Namsaraev EA, Karlin-Neumann GA, Fakhrai-Rad H, Ronaghi M, Willis TD, Landegren U, Davis RW, Multiplexed genotyping with sequence-tagged molecular inversion probes Nature biotechnology21:673-8 2003 |
| PubMed ID: 12730666 |
| |
| Ho RH, Leake BF, Roberts RL, Lee W, Kim RB, Ethnicity-dependent polymorphism in Na+-taurocholate cotransporting polypeptide (SLC10A1) reveals a domain critical for bile acid substrate recognition The Journal of biological chemistry279:7213-22 2003 |
| PubMed ID: 14660639 |
| |
| Hosono S, Faruqi AF, Dean FB, Du Y, Sun Z, Wu X, Du J, Kingsmore SF, Egholm M,
Lasken RS, Unbiased whole-genome amplification directly from clinical samples. Genome Res13(5):954-64 2003 |
| PubMed ID: 12695328 |
| |
| Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ, Ackerman MJ, A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels Circulation research93:821-8 2003 |
| PubMed ID: 14500339 |
| |
| Pipo JR, Feng JH, Yamamoto T, Ohsaki Y, Nanba E, Tsujino S, Sakuragawa N, Martiniuk F, Ninomiya H, Oka A, Ohno K, New GAA mutations in Japanese patients with GSDII (Pompe disease). Pediatr Neurol29(4):284-7 2003 |
| PubMed ID: 14643388 |
| |
| Thomae BA, Rifki OF, Theobald MA, Eckloff BW, Wieben ED, Weinshilboum RM, Human catecholamine sulfotransferase (SULT1A3) pharmacogenetics: functional genetic polymorphism Journal of neurochemistry87:809-19 2003 |
| PubMed ID: 14622112 |
| |
| Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ, Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy Circulation108:445-51 2003 |
| PubMed ID: 12860912 |
| |
| Dean FB, Hosono S, Fang L, Wu X, Faruqi AF, Bray-Ward P, Sun Z, Zong Q, Du Y, Du J, Driscoll M, Song W, Kingsmore SF, Egholm M, Lasken RS, Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci U S A99(8):5261-6 2002 |
| PubMed ID: 11959976 |
| |
| Peters LM, Anderson DW, Griffith AJ, Grundfast KM, San Agustin TB, Madeo AC,
Friedman TB, Morell RJ, Mutation of a transcription factor, TFCP2L3, causes progressive autosomal
dominant hearing loss, DFNA28. Hum Mol Genet11(23):2877-85 2002 |
| PubMed ID: 12393799 |
| |
| Thomae BA, Eckloff BW, Freimuth RR, Wieben ED, Weinshilboum RM, Human sulfotransferase SULT2A1 pharmacogenetics: genotype-to-phenotype studies The pharmacogenomics journal2:48-56 2002 |
| PubMed ID: 11990382 |
| |
| Van Driest SL, Will ML, Atkins DL, Ackerman MJ, A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden
cardiac death in childhood. Am J Cardiol90(10):1123-7 2002 |
| PubMed ID: 12423715 |
| |
| Weston A, Ensey J, Kreiss K, Keshava C, McCanlies E, Racial differences in prevalence of a supratypic HLA-genetic marker immaterial to pre-employment testing for susceptibility to chronic beryllium disease American journal of industrial medicine41:457-65 2002 |
| PubMed ID: 12173370 |
| |
| Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA, Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA286(18):2264-9 2001 |
| PubMed ID: 11710892 |
| |
| Heinimann K, Thompson A, Locher A, Furlanetto T, Bader E, Wolf A, Meier R, Walter K, Bauerfeind P, Marra G, Muller H, Foernzler D, Dobbie Z, Nontruncating APC germ-line mutations and mismatch repair deficiency play a minor role in APC mutation-negative polyposis. Cancer Res61(20):7616-22 2001 |
| PubMed ID: 11606402 |
| |
| Lucas, J.L. and Sadee, W., Single Nucleotide Polymorphisms of the Human M1 Muscarinic Acetylcholine Receptor Gene AAPS PharmSci3(4):article 31 2001 |
| PubMed ID: 12049494 |
| |
| Tanus-Santos JE, Desai M, Flockhart DA, Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants. Pharmacogenetics11(8):719-25 2001 |
| PubMed ID: 11692081 |
| Catalog ID | Sex | Age at Sampling | Family | Relationship | Gene | Mutation | Affected |
| NA17201 | Male | 25 YR | 700 | | CYP2C19 | 21158G>A (Mono) | No |
| NA17286 | Female | 73 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17289 | Female | 73 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17242 | Female | 65 YR | | | | | No |
| NA17247 | Female | 65 YR | | | HLA-B | HLA-B*5701 (Mono) | No |
| NA17251 | Female | 63 YR | | | | | No |
| NA17233 | Female | 56 YR | | | | | No |
| NA17279 | Female | 54 YR | | | | | No |
| NA17218 | Female | 51 YR | | | | | No |
| NA17273 | Female | 51 YR | | | | | No |
| NA17290 | Female | 5 YR | | | HLA-B | HLA-B*5701 (Mono) | No |
| NA17224 | Female | 48 YR | | | | | No |
| NA17245 | Female | 48 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17246 | Female | 46 YR | | | CYP2C19, CYP2D6 | IVSDS3, G>A, +1 (Mono), TRP120ARG (Mono) | No |
| NA17215 | Female | 44 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17217 | Female | 44 YR | | | | | No |
| NA17230 | Female | 37 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17250 | Female | 35 YR | | | | | No |
| NA17238 | Female | 34 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17266 | Female | 34 YR | | | | | No |
| NA17267 | Female | 34 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17229 | Female | 33 YR | | | | | No |
| NA17294 | Female | 33 YR | | | | | No |
| NA17208 | Female | 32 YR | | | | | No |
| NA17257 | Female | 32 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17262 | Female | 32 YR | | | | | No |
| NA17234 | Female | 31 YR | | | | | No |
| NA17252 | Female | 28 YR | | | CYP2C9, CYP2D6 | 15489579A>C (Mono), IVSDS3, G>A, +1 (Mono) | No |
| NA17260 | Female | 28 YR | | | | | No |
| NA17261 | Female | 28 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17284 | Female | 28 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17239 | Female | 27 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17258 | Female | 27 YR | | | | | No |
| NA17213 | Female | 26 YR | | | | | No |
| NA17236 | Female | 26 YR | | | CYP2D6 | 2850C>T (Mono), ARG296CYS AND SER486THR (Mono) | No |
| NA17263 | Female | 26 YR | | | | | No |
| NA17265 | Female | 25 YR | | | | | No |
| NA17256 | Female | 24 YR | | | | | No |
| NA17296 | Female | 24 YR | | | CYP2D6 | 2613_2615delAGA (Mono) | No |
| NA17202 | Female | 23 YR | | | | | No |
| NA17204 | Female | 23 YR | | | | | No |
| NA17206 | Female | 23 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17209 | Female | 23 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17210 | Female | 22 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17216 | Female | 22 YR | | | | | No |
| NA17221 | Female | 22 YR | | | CYP2C9, CYP2D6 | 15489579A>C (Mono), DUP (Mono) | No |
| NA17275 | Female | 22 YR | | | | | No |
| NA17277 | Female | 22 YR | | | | | No |
| NA17293 | Female | 20 YR | | | CYP2D6 | 2613_2615delAGA (Mono) | No |
| NA17274 | Female | 19 YR | | | CYP2D6 | ARG296CYS AND SER486THR (Mono) | No |
| NA17299 | Female | | | | | | No |
| NA17228 | Male | 75 YR | | | | | No |
| NA17292 | Male | 73 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17285 | Male | 69 YR | | | | | No |
| NA17222 | Male | 68 YR | | | | | No |
| NA17211 | Male | 65 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17237 | Male | 63 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17281 | Male | 63 YR | | | CYP2D6 | 2613_2615delAGA (Mono) | No |
| NA17300 | Male | 63 YR | | | CYP2D6 | 1-BP DEL, 1707T (Mono) | No |
| NA17240 | Male | 60 YR | | | CYP2D6, HLA-B | HLA-B*5701 (Mono), PRO34SER (Mono) | No |
| NA17297 | Male | 60 YR | | | | | No |
| NA17255 | Male | 6 YR | | | | | No |
| NA17223 | Male | 57 YR | | | | | No |
| NA17248 | Male | 55 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono), PRO34SER (Mono) | No |
| NA17269 | Male | 55 YR | | | | | No |
| NA17287 | Male | 54 YR | | | | | No |
| NA17243 | Male | 52 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17212 | Male | 51 YR | | | | | No |
| NA17254 | Male | 45 YR | | | | | No |
| NA17244 | Male | 44 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17249 | Male | 44 YR | | | | | No |
| NA17259 | Male | 44 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17271 | Male | 44 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17298 | Male | 44 YR | | | | | No |
| NA17241 | Male | 40 YR | | | | | No |
| NA17225 | Male | 37 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17220 | Male | 36 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17226 | Male | 36 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17270 | Male | 34 YR | | | | | No |
| NA17214 | Male | 33 YR | | | | | No |
| NA17219 | Male | 33 YR | | | | | No |
| NA17291 | Male | 33 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17235 | Male | 31 YR | | | CYP2D6 | DEL (Mono) | No |
| NA17283 | Male | 31 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17288 | Male | 31 YR | | | HLA-B | HLA-B*5701 (Mono) | No |
| NA17295 | Male | 31 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17282 | Male | 30 YR | | | | | No |
| NA17207 | Male | 28 YR | | | | | No |
| NA17231 | Male | 28 YR | | | | | No |
| NA17203 | Male | 27 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17232 | Male | 27 YR | | | | | No |
| NA17253 | Male | 27 YR | | | | | No |
| NA17205 | Male | 26 YR | | | | | No |
| NA17268 | Male | 26 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17264 | Male | 25 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono) | No |
| NA17227 | Male | 18 YR | | | CYP2D6 | 2613_2615delAGA (Mono) | No |
| NA17272 | Male | 17 YR | | | CYP2D6 | IVSDS3, G>A, +1 (Mono), PRO34SER (Mono) | No |
| NA17278 | Male | 17 YR | | | | | No |
| NA17276 | Male | 15 YR | | | CYP2D6 | DEL (Mono) | No |
| NA17280 | Male | | | | CYP2C19, CYP2D6 | 1-BP DEL, 2549A (Mono), ARG296CYS AND SER486THR (Mono), TRP120ARG (Mono) | No |
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