American Journal of Human Genetics 2006 - Abstracts
| American Journal of Human Genetics 2006 | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. | Biological sciences | Feuk, Lars; Kalervo, Aino; Lipsanen-Nyman, Martina, Skaug, Jennifer; Nakabayashi, Kazuhiko, Rivlin, Joseph; Roberts, Wendy; Senman, Lili; Summers, Anne, Szatmari, Peter; Wong, Virginia | |||
| Accommodating chromosome inversions in linkage analysis. | Biological sciences | Kenneth Lange, Gary K. Chen, Erin Slaten, Roel A. Ophoff | |||
| A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. | Biological sciences | James R. Lupski, Sarah J. Lindsay, Mehrdad Khajavi, Matthew E. Hurles | |||
| A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.(Clinical report) | Biological sciences | Peter Lichter, Charles L. Bevins, Elke Schaeffeler, Matthias Schwab, Klaus Fellermann, Daniel E. Stange, Hartmut Schmalzl, Jan Wehkamp, Walter Reinisch, Alexander Teml, Bernhard Radlwimmer, Eduard F. Stange | |||
| A coalescence-guided hierarchical Bayesian method for haplotype interface. | Biological sciences | Yu Zhang, Tianhua Niu, Jun S. Liu | |||
| A common haplotype of the glucokinase gene alters fasting glucose and birth weight: Association in six studies and population-genetics analyses.(Report) | Biological sciences | George Davey Smith, Luigi Ferrucci, David Melzer, Andrew T. Hattersley, Susan Ring, Anna Maria Corsi, Michael N. Weedon, Vanessa J. Clark, Yudong Qian, Yoav Ben-Shlomo, Nicholas Timpson, Shah Ebrahim, Debbie A. Lawlor, Marcus E. Pembrey, Terry J. Wilkin, Linda D. Voss, Alison N. Jeffrey, Brad Metcalf, Anna Murray, Bridget Knight, Bev Shields, Anna Di Rienzo, Tim M. Frayling | |||
| A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. | Biological sciences | Jouni Uitto, Aryeh Metzker, Mordechai Choder, Eli Sprecher, Dan Geiger, Margarita Indelman, Dani Bercovich, Reuven Bergman, Gabriele Richard, Orit Topaz, Ilana Chefetz, Yoram Altschuler | |||
| A fast method for computing high-significance disease association in large population-based studies.(Clinical report) | Biological sciences | Ron Shamir, Gad Kimmel | |||
| A flexible Bayesian framework for modeling haplotype association with disease, allowing for dominance effects of the underlying causative variants. | Biological sciences | Andrew P. Morris | |||
| A genomewide search finds major susceptibility loci for nicotine dependence on chromosome 10 in African Americans.(Clinical report) | Biological sciences | Karen M. Crews, Robert C. Elston, Grant Somes, Jennie Z. Ma, Thomas J. Payne, Dong Zhang, Ming D. Li, Xiang-Yang Lou, Randolph T. Dupont, Nancy J. Williams | |||
| A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping. | Biological sciences | Chao Tian, David A. Hinds, Russell Shigeta, Rick Kittles, Dennis G. Ballinger, Michael F. Seldin | |||
| A geographically explicit genetic model of worldwide human-settlement history. | Biological sciences | Andrea Manica, Hua Liu, Franck Prugnolle, Francois Balloux | |||
| A mutation of beta-actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness and dystonia. | Biological sciences | Bianca Fontanella, Antonio Davila, Germana Meroni, Vincent Procaccio, Gloria Salazar, Shoichiro Ono, Melanie L. Styers, Marla Gearing, Richard Jimenez, Jorge Juncos, Claire-Anne Gutekunst, Estelle Sontag, Jean Marie Sontag, Victor Faundez, Bruce H. Wainer | |||
| Analysis of high-resolution HapMap of DTNBP1 (dysbindin) suggests no consistency between reported common variant associations and schizophrenia. | Biological sciences | Edward M. Scolnick, Mark J. Daly, Mousumi Mutsuddi, Derek W. Morris, Pamela Sklar, Skye G. Waggoner | |||
| A new autosomal recessive form of stickler syndrome is caused by a mutation in the COL9A1 gene.(Clinical report) | Biological sciences | Hiroaki Suzuki, Guy Van Camp, Rikkert L. Snoeckx, Nele Hilgert, Jenneke van den Ende, Hisakumi Fukuoka, Michio Wagatsuma, R.M. Erica Smets, Filip Vanhoenacker, Frank Declau, Paul Van De Heyning, Shin-ichi Usami | |||
| A new method for detecting human recombination hotspots and its applications to the HapMap ENCODE data. | Biological sciences | Jun Li, Michael Q. Zhang, Xuegong Zhang | |||
| An expectation-maximization algorithm for the analysis of allelic expression imbalance. | Biological sciences | M.D. Teare, J. Heighway, M.F. Santibanez Koref | |||
| A novel mutations in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. | Biological sciences | Lynn B. Jorde, Frank G. Whitby, Michael J. Bamshad, John C. Carey, David H. Viskochil, Reha M. Toydemir, Anna E. Brassington, Pinar Bayrak-Toydemir, Patrycja A. Krakowiak, Nicola Longo | |||
| Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. | Biological sciences | William J. McKenna, Alison Evans, Syrris, Petros; Ward, Deirdre | |||
| Association of polymorphisms in the angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community. | Biological sciences | Lindsay A. Farrer, Robert P. Friedland, Clinton T. Baldwin, Yan Meng, Abdalla Bowirrat, Kristin Waraska, Rivka Inzelberg | |||
| Biochemical and genetic analysis of ANK in arthritis and bone disease.(Report) | Biological sciences | David M. Kingsley, Kyle A. Gurley, Richard J. Reimer | |||
| Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among northern Europeans. | Biological sciences | Thomas Meyer, Hans-Hilger Ropers, Niels Tommerup, Reiner Siebert, Mette Gilling, Vera M. Kalscheuer, Jorn S. Dullinger, Karen Brondum-Nielsen, Simon N. Thomas, Stefan Gesk, Simone Metzke-Heidemann, Zeynep Tumer | |||
| Cathepsin D deficiency is associated with a human neurodegenerative disorder. | Biological sciences | Paul Saftig, Jutta Gartner, Robert Steinfeld, Konstanze Reinhardt, Kathrin Schreiber, Merle Hillebrand, Ralph Kraetzner, Wolfgang Bruck | |||
| Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. | Biological sciences | Margaret A. Pericak-Vance, Jonathan L. Haines, William K. Scott, Michael A. Hauser, Silke Schmidt, Paul Gallins, Frank Wong, Yu Sarah Chen, Kylee Spencer, Nathalie Schnetz-Boutaud, Eric A. Postel, Anita Agarwal | |||
| Cis- and trans-acting gene regulation is associated with osteoarthritis. | Biological sciences | Gerd-Rudiger Burmester, Andreas Radbruch, Sandra Mahr, Thomas Haupi, Carsten Perka, Matthias Hauschild, Dietmar Hilke, Dirk Koczan, Hans-Jurgen Thiesen, Udo Gobel, Veit Krenn, Brigitte Muller, Andreas Grutzkau, Jasper Neidel | |||
| Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.(Clinical report) | Biological sciences | David Altshuler, Leif Groop, Vamsi Mootha, Richa Saxena, I.W. de Bakker, Karyn Singer, Noel Burtt, Joel N. Hirchhorn, Daniel Gaudet, Bo Isomma, Mark J. Daly, Kristin G. Ardlie | |||
| Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. | Biological sciences | Jean-Pierre Fryns, Charis Eng, Capucine Delnatte, Damien Sanlaville, Jean-Francois Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Oliver Goulet, Francis Jaubert, Michael Vekemans, Stanislas Lyonnet, Serge Romana, Dominique Stoppa-Lyonnet | |||
| Contrasting linkage-disequilibrium patterns between cases and controls as a novel association-mapping method. | Biological sciences | Dmitri V. Zaykin, Zhaoling Meng, Margaret G. Ehm | |||
| Coverage and power in genomewide association studies. | Biological sciences | Eric Jorgenson, John S. Witte | |||
| CRYBA4, a novel human cataract gene, is also involved in microphthalmia. | Biological sciences | Gail Billingsley, Sathiyavedu T. Santhiya, Andrew D. Paterson, Koji Ogata, Shoshana Wodak, S. Mohsen Hosseini, Shyam Manohar Manisastry, Perumalsamy Vijayalakshmi, Pudhiya Mundyat Gopinath, Jochen Graw, Elise Heon | |||
| Detecting disease-causing mutations in the human genome by haplotype matching. | Biological sciences | Kerry L. Bubb, Maynard V. Oslon | |||
| Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: Multiple significant associations with alcohol dependence. | Biological sciences | Henry R. Kranzler, Nicholas J. Schork, Joel Gelernter, Xingguang Luo, Lingjun Zuo, Shuang Wang | |||
| Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. | Biological sciences | Eric Vilain, Stanley F. Nelson, Arnaud Lacombe, Hane Lee, Laila Zahed, Mahmoud Choucair, Jean-Marc Muller, Wael Salameh | |||
| Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.(phosphatase and tensin homolog )(Clinical report) | Biological sciences | Lei Shen, Robert Pilarski, Xiao-Ping Zhou, Marta S. Sarquis, Shipra Agarwal, Chris Eng | |||
| Double inactivation of NF1 in tibial pseudarthrosis.(Clinical report) | Biological sciences | David A. Stevenson, Holly Zhou, Shadi Ashrafi, Ludwine M. Messiaen, John C. Carey, Jacques L. DEAstous, Stephen D. Santora, David H. Viskochil | |||
| DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.(Clinical report) | Biological sciences | Hugh Calkins, Harry C. Dietz, Mark M. Awad, Darshan Dalal, Cho Eunpi, Nuria Amat-Alarcon, Cynthia James, Crystal Tichnell, April Tucker, Stuart D. Russell, David A. Bluemke, Daniel P. Judge | |||
| Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. | Biological sciences | Mingyao Li, Michael Boenke, Goncalo Abecasis | |||
| Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis. | Biological sciences | E. Ekelund, Saaf A., M. Tengvall-Linder, Melen E., J. Link, J. Barker, N.J. Reynolds, S.J. Meggitt, J. Kere, C.-F. Wahlgren, G. Pershagen, M. Wickman, M. Norderskjold, I. Kockum, M. Bradley | |||
| ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.(Clinical report) | Biological sciences | Ulla Hodgson, Ville Pulkkinen, Morag Dixon, Myriam Peyrard-Janvid, Marko Rehn, Paivi Lahermo, Vesa Ollikainen, Kaisa Salmenkivi, Vuokko Kinnula, Juha Kere, Pentti Tukiainen, Tarja Laitinen | |||
| Epigenetic regulation of human gamma-glutamyl hydrolase activity in acute lymphoblastic leukemia cells. | Biological sciences | Raul C. Ribeiro, Mary V. Relling, William E. Evans, Ching-Hon Pui, Cheng Cheng, Qing Cheng, Kristine R. Crews | |||
| Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. | Biological sciences | Hanns Lochmuller, Christoph Hubner, Katrin Hoffmann, Juliane S. Muller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H. Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem, Eugen Boltshauser, Beril Talim, Rita Horvath, Valerie Delague, Peter N. Robinson, Stefan Mundlos | |||
| Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites. | Biological sciences | Marianne Paulsen, Connie Lund, Zarqa Akram, Jakob R. Winther, Nina Horn, Lisbeth Birk Moller | |||
| Exact test of Hardy-Weinberg equilibrium and homogeneity of disequilibrium across strata.(Report) | Biological sciences | Daniel J. Schaid, Anthony J. Batzler, Gregory D. Jenkins, Michelle A.T. Hildebrandt | |||
| Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. | Biological sciences | Ellen Wilch, Mei Zhu, Kirk B. Burkhart, Martha Regier, Jill L. Elfenbein, Rachel A. Fisher, Karen H. Friderici | |||
| Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. | Biological sciences | Norbert Hubner, Herbert Schulz, Min Ae Lee-Kirsch, Maolian Gong, Franz Ruschendorf, Annette Stein, Christiane Pfeiffer, Annalisa Ballarini, Manfred Gahr, Maja Linne | |||
| Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 1 3q.(Clinical report) | Biological sciences | Shiro Ikegawa, Akihiko Mabuchi, Shigeru Nakamura, Yoshio Takatori | |||
| Fibulin-4: A novel gene for an autosomal recessive cutis laxa syndrome. | Biological sciences | Lihua Y. Marmorstein, Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim, Brad Angle, Zsolt Urban | |||
| Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: Evidence for genetic epistasis with chromosome 16q12. | Biological sciences | Robert R. Graham, Carl D. Langefeld, Patrick M. Gaffney, Peter R. Rodine, Kathy L. Moser, Timothy W. Behrens, Ward A. Ortmann, Adrienne H. Williams | |||
| Genetic heterogeneity in Italian families with IgA nephropathy: Suggestive linkage for two novel IgA nephropathy Loci.(Report) | Biological sciences | Francesco Paolo Schena, Luigi Bisceglia, Giuseppina Cerullo, Paola Forabosco, Diletta Domenica Torres, Francesco Scolari, Michele Di Perna, Marina Foramitti, Antonio Amoroso, Sara Bertok, Jurgen Floege, Peter Rene Mertens, Klaus Zerres, Efstathios Alexopoulos, Dimitrios Kirmizis, Mazzucco Ermelinda, Leopoldo Zelanta | |||
| Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden. | Biological sciences | Ake Lernmark, Andrew F. Siegel, Leroy Hood, Jared C. Roach, Kerry Deutsch, Sarah Li, Lynn M. Bekris, Derek C. Einhaus, Colleen M. Sheridan, Gustavo Glusman, Marta Janer | |||
| Genetic variation in the CCL18-CCL3-CCL4 chemokine gene cluster influences HIV type 1 transmission and AIDS disease progression .(Clinical report) | Biological sciences | James J. Goedert, John Phair, Ping An, Susan Buchbinder, Sharyne Donfield, Cheryl Winkler, William Modi S., James Lautenbrger, Kevin Scott, Gregory D. Kirk, Stephen OEBrien | |||
| Genomewide association analysis of human narcolepsy and a new resistance gene. | Biological sciences | Minae Kawashima, Akira Oka, Gen Tamiya, Hirohiko Hohjoh, Takeo Juji, Takashi Ebisawa, Yotaka Honda, Hidetoshi Inoko, Katsushi Tokunaga | |||
| Genome wide linkage for opioid dependence and related traits. | Biological sciences | Henry R. Kranzler, Lindsay Farrer, Victor Hesselbrock, Bruce Rounsaville, Joel Gelernter, James Poling, Carolien Panhuysen, Roger Weiss, Marsha Wilcox, Susan Sonne, Hongyu Zhao | |||
| Genomewide linkage screen for Waldenstrom macroglobulinemia susceptibility loci in high-risk families.(Clinical report) | Biological sciences | Margaret A. Tucker, Mary L. McMaster, Lynn R. Goldin, Yan Bai, Monica Ter-Minassian, Stefan Boehringer, Therese R. Giambarresi, Linda G. Vasquez | |||
| Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. | Biological sciences | Stylianos E. Antonarakis, Uppala Radhakrishna, Uppala Ratnamala, Mathew Gaines, Soraya Beiraghi, David Hutchings, Jeffrey Golla, Syed A. Husain, Prakash S. Gambhir, Jayesh J. Sheth, Frenny J. Sheth, Ghati K. Chetan, Mohammed Naveed, Jitendra V. Solanki, Uday C. Patel, Dilipkumar C. Master, Rafiq Memon, Gregory S. Antonarakis, Swapan K. Nath | |||
| Germline missense mutations affecting KRAS isoform B are associated with a severe noonan syndrome phenotype. | Biological sciences | Bruno Dallapiccola, Antonio Pizzuti, Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sarkozy, Cristina Digilio, Antonio Palleschi, Paola Grammatico, Giuseppe Zampino, Bruce D. Gelb, Marco Tartaglia | |||
| Haplotype homozygosity and derived alleles in the human genome. | Biological sciences | Andrew E. Fry, Clare J. Trafford, Martin A. Kimber, Man-Suen Chan, Kirk A. Rockett, Dominic P. Kwiatkowski | |||
| High incidence of later-onset fabry disease revealed by newborn screening.(Clinical report) | Biological sciences | Robert J. Desnick, Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone | |||
| HLA and genomewide allele sharing in dizygotic twins.(Report) | Biological sciences | Nicholas G. Martin, Andrew C. Heath, Grant W. Montgomery, Dorret I. Boomsma, Gu Zhu, Jouke Jan Hottenga, David L. Duffy, Peter M. Visscher | |||
| HLA-B maternal-fetal genotype matching increases risk of schizophrenia. | Biological sciences | Janet S. Sinsheimer, Leena Peltonen, Jouko Lonnqvist, Christina G.S. Palmer, Hsin-Ju Hsieh, Elaine F. Reed, J. Arthur Woodward | |||
| Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. | Biological sciences | Sophie Valleix, Florence Niel, Brigitte Nedelec, Marie-Paule Algros, Claire Schwartz, Bernard Delbosc, Marc Delpech, Bernadette Kantelip | |||
| Human adaptive evolution at myostatin (GDF8), a regulator of muscle growth.(Report) | Biological sciences | Robert E. Ferrell, Wen-Hsiung Li, Matthew A. Saunders, Jeffrey M. Good, Elizabeth C. Lawrence, Michael W. Nachman | |||
| Human genomic deletions mediated by recombination between Alu elements. | Biological sciences | Richard Cordaux, Mark A. Batzer, Hui Wang, Matthew Dyer, Shurjo Sen K., Kyudong Han, Jianxin Wang, Jungnam Lee, Pauline A. Callinan, Ping Liang | |||
| Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). | Biological sciences | Don J. Mahuran, Xiaolian Fan, Huiwen Zhang, Sunqu Zhang, Richard D. Bagshaw, Michael B. Tropak, John W. Callahan | |||
| Imprinting at the SMPD1 locus: Implications for acid sphingomyelinase-deficient Niemann-Pick disease.(sphingomyelinase) | Biological sciences | Edward H. Schuchman, Calogera M. Simonaro, Jae-Ho Park, Efrat Eliyahu, Nataly Shtraizent, Margaret M. McGovern | |||
| Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.(Report) | Biological sciences | Konrad Bork, Roberto Colombo, Hans Christian Hennies, Sven Cichon, Ludovic Martin, Felicitas Muller, Karen Van Driessche, Anna Karpushova, Wim Stevens, Thomas Renne, Christian Drouet, Markus M. Nothen | |||
| Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. | Biological sciences | M. Campbell, N. A. Oates, J. van Vliet, D. L. Duffy, H. Y. Kroes, N. G. Martin, D. I. Boomsma, M. G. Coulthard, E. Whitelaw, S. Chong | |||
| Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. | Biological sciences | Renzo Guerrini, Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Giorgio Casari | |||
| Intra- and interindividual epigenetic variation in human germ cells. | Biological sciences | James M. Flanagan, Violeta Popendikyte, Natalija Pozdniakovaite, Martha Sobolev, Abbas Assadzadeh, Axel Schumacher, Masood Zangeneh, Lynette Lau, Carl Virtanen, Sun-Chong Wang, Arturas Petronis | |||
| Leigh syndrome with nephropathy and Co[Q.sub.10] deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.(Report) | Biological sciences | Salvatore DiMauro, Michio Hirano, Markus Schuelke, Luis Carlos Lopez, Catarina M. Quinzil, Tomotake Kanki, Richard J.T. Rodenburg, Ali Naini | |||
| Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate. | Biological sciences | James F. Gusella, Giorgio Casari, Irene Pichler, Fabio Marroni, Claudia Beu Volpato, Christine Klein, Alessandro De Grandi, Peter P. Pramstaller | |||
| Linkage analysis using co-phenotypes in the BRIGHT study reveals novel potential susceptibility loci for hypertension. | Biological sciences | Martin Farrall, John Webster, G. Mark Lathrop, David G. Clayton, Chris Wallace, Nilesh J. Samani, Stephen J. Newhouse, Abiodun K. Onipinla, Beverley Burke, Johannie Gungadoo, Richard J. Dobson, Ann Carolina B. Marcano, Ming-Zhan Xue, Morris Brown, John M. Connell, Anna Dominiczak, Charles Mein, Mark J. Caulfield, Patricia B. Munroe | |||
| Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. | Biological sciences | Evan E. Eichler, Donna G. Albertson, Steven A. McCarroll, Devin P. Locke, Sean D. McGrath, Tera L. Newman, Ze Chang, David M. Altshuler, Daniel Pinkel, Stuart Schwartz | |||
| Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity. | Biological sciences | Francesca Capon, Ashley Reece, Rathi Ravindrarajah, Eddie Chung | |||
| Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. | Biological sciences | Jean-Pierre Fryns, Han G. Brunner, Ben C.J. Hamel, David Genevieve, Tjitske Kleefstra, Astrid R. Oudakker, Jeanne Amiel, Willy M. Nillesen, Alex Magee, Valerie Cormier-Daire, Hilde van Esch, Erik A. Sistermans, Bert B.A. de Vries | |||
| LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: Evidence of two distinct founding events beginning two millennia ago. | Biological sciences | Thomas D. Bird, John G. Nutt, John W. Roberts, Cyrus P. Zabetian, Carolyn M. Hutter, Dora Yearout, Alexis N. Lopez, Stewart A. Factor, Alida Griffith, Berta C. Leis, Donald S. Higgins, Denise M. Kay, Karen L. Edwards, Ali Samii, Haydeh Payami | |||
| Mapping trait loci by use of infrared ancestral recombination graphs. | Biological sciences | Richard Durbin, Mark J. Minichiello | |||
| Mapping tumor-suppressor genes with multipoint statistics from copy-number-variation data. | Biological sciences | Iuliana Ionita, Raoul-Sam Daruwala, Bud Mishra | |||
| Medical genetics in the genomic medicine of the 21st century. | Biological sciences | Charles J. Epstein | |||
| Meiotic recombination and spatial proximity in the etiology of the recurrent (t11;22).(Clinical report) | Biological sciences | Hiroki Kurahashi, Terry Ashley, Ann P. Gaeth, Hidehito Inagaki, Allen Seftel, Maimon M. Cohen, Lorinda K. Anderson, Beverly S. Emanuel | |||
| Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers.(Clinical report) | Biological sciences | Entela Bua, Jody Johnson, Allen Herbst, Bridget Delong, Debbie McKenzie, Shahriar Salamat, Judd M. Aiken | |||
| Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.(Clinical report) | Biological sciences | Jay D. Horton, Helen H. Hobbs, Jonathan C. Cohen, Zhenze Zhao, Yetsa Tuakli-Wosornu, Thomas A. Lagace, Lisa Kinch, Nicholas V. Grishin | |||
| Monte Carlo pedigree disequilibrium test for markers on the X chromosome. | Biological sciences | Yang Liu, Jie Ding, Shili Lin | |||
| Multilocus association mapping using variable-length Markov chains. | Biological sciences | Sharon R. Browning | |||
| Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.(Report) | Biological sciences | Craig T. Basson, Patrick T. Ellinor, Arnd Heuser, Eva R. Plovie, Katja S. Grossmann, Jordan T. Shin, Thomas Wichter, Sabine Sasse-Klaassen, Ludwig Thierfelder, Calum A. MacRae, Brenda Gerull | |||
| Mutant POLG2 disrupts DNA polymerase gama subunits and causes progressive external opthalmoplegia. | Biological sciences | Douglass M. Turnbull, Robert W. Taylor, Matthew J. Longley, William C. Copeland, Susanna Clark, Cynthia Yu Wai Man, Gavin Hudson, Steve E. Durham, Simon Nightingale, Patrick F. Chinnery | |||
| Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. | Biological sciences | Wycisk, Katharina Agnes; Zeitz, Christina; Feil, Silke; Wittmer, Mariana, Forster, Ursula; Neidhardt, John; Wissinger, Bernd, Zrenner, Eberhart; Wilke, Robert | |||
| Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. | Biological sciences | Kimitsuna Watanabe, Hui Zhao, Min-Xin Guan, Qingfeng Yan, Xiaoming Li, Yelena Bykhovaskaya, Jaime Gallo-Teran, Petr Hajek, Noriko Umeda, Gema Garrido, Emebet Mengesha, Tsutomu Suzuki, Ignacio del Castillo, Jennifer Lynne Peters, Ronghua Li, Yaping Qian; Xinjian Wang, Ester Ballana, Mordechai Shohat, Jianxin Lu; Estivill, Xavier, Nathan Fischel-Ghodsian | |||
| Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes. | Biological sciences | Yan Li, Charis Eng, Marcus G. Pezzolesi | |||
| Mutations in CABP4, the gene encoding the [Ca.sup.2}-binding protein 4, cause autosomal recessive night blindness. | Biological sciences | Daniel F. Schorderet, Christina Zeitz, Barbara Kloeckener-Gruissem, Ursula Forster, Susanne Kohl, Istvan Magyar, Bernd Wissinger, Gabor Matyas, Francois-Xavier Borruat, Eberhart Zrenner, Francis L. Munier, Wolfgang Berger | |||
| Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. | Biological sciences | Ayse Corut, Abdurrahman Senyigit, Sibel Aylin Ugur, Sedat Altin, Ugur Ozcelik, Haluk Calisir, Zeki Yildirim, Ayhan Gocmen, Aslihan Tolun | |||
| Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.(centrosomal protein ) | Biological sciences | Han G. Brunner, Frans P.M. Cremers, Thomas Meitinger, Tim M. Strom, Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer, Irma Lopez, Maarten L. Arends, Krysta E.J. Voesenek, Marijke N. Zonneveid, Carel B. Hoyng, Ingeborgh van den Born, Klaus Rohrschneider | |||
| Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. | Biological sciences | Richard C. Trembath, Neil V. Morgan, Han G. Brunner, Jenny E.V. Morton, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Christine Oley, Colin A. Johnson, Eammon R. Maher | |||
| Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. | Biological sciences | D. Haas, S. Ferdinandusse, P. Kostopoulos, S. Denis, H. Rusch, H. Overmars, U. Dillmann, Reith W., R.J.A. Wanders, M. Duran, M. Marziniak | |||
| Mutations in the gene encoding the sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.(Report) | Biological sciences | David Jones, Adam Butler, Andy Yates, Martin Bobrow, Richard Wooster, Charles E. Schwartz, Claire Stevens, Deborah Thompson, Michael R. Stratton, David Richardson, Gillian Turner, Rachel Harrison, Patrick S. Tarpey, Jon Teague, Sarah Edkins, Sarah O'Meara, Nancy Carpenter, Tim Avis, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ying Luo, Huw Dorkins, Douglas F. Easton, Richard J. Simensen, Ed Dicks, Kristian Gray, Kelly Halliday, Julia Butler, Uma Mallya, Jenny Moon, Roger E. Stevenson, Katy Hills, Jonathon Hinton, Andrew Menzies, Tatiano Mironenko, Janet Perry, Sara Widaa, Rachael Catford, Michael Partington, Jozef Gecz, Keiran Raine, Rebecca Shepherd, Alexandra Small, Calli Tofts, Jennifer Varian, Sofie West | |||
| Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.(Report) | Biological sciences | K. Zerres, C. Bergmann, J. Senderek, D. Anhuf, C.T. Thiel, A.B. Ekici, P. Poblete-Gutierrez, M. Van Steensel, D. Seelow, G. Nurnberg, H.H. Schild, P. Nurnberg, A. Reis, J. Frank | |||
| Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans. | Biological sciences | Huimin Wu, Jill A. Cowing, Michel Michaelides, Susan E. Wilkie, Glen Jeffery, Sharon A. Jenkins, Viktoria Mester, Alan C. Bird, Anthony G. Robson, Graham E. Holder, Anthony T. Moore, David M. Hunt, Andrew R. Webster | |||
| Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. | Biological sciences | Margaret A. Pericak-Vance, Stephan Zuchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Marth A. Nance, Perry C. Gaskell, Jeffrey M. Vance, Allison E. Ashley-Koch | |||
| Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. | Biological sciences | Konrad, Martin; Schaller, Andre; Seelow, Dominik; Pandey, Amit V.; Waldegger, Siegfried, Lesslauer, Annegret; Vitzthum, Helga; Suzuki, Yoshiro; Luk, John M.; Becker, Christian | |||
| Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. | Biological sciences | J. Cox, S. Scott, C.G. Woods, S. Stricker, P. Seemann, R. Stern, E. Sherridan, K. Springell, E. Roberts, S.M. Sharif, C. Toomes, G. Karbani, Bond, J.; Kumar, D., L. Al-Gazali, S. Mundlos | |||
| Mutations of presenilin genes in dilated cardiomyopathy and heart failure.(Report) | Biological sciences | Michael Litt, Ray E. Hershberger, Duanxiang Li, Sharie B. Parks, Jessica D. Kushner, Deirdre Nauman, Donna Burgess, Susan Ludwigsen, Julie Partain, Randal R. Nixon, Charles N. Allen, Robert P. Irwin, Petra M. Jakobs | |||
| Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. | Biological sciences | Brunella Franco, Isabella Wimplinger, Georg Rosenberger, Manuela Morleo, Iaconis, Daniel, Orth, Ulrike, Andreas Gal, Kerstin Kutsch | |||
| Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14. | Biological sciences | Jouni Uitto, Eli Sprecher, Dan Geiger, Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, Kristen Holland, Susan Huson, Hans Christian Hennies, Margarita Indelman, Dani Bercovich, Reuven Bergman, John A. McGrath, Gabriele Richard | |||
| Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. | Biological sciences | Kurenai Tanji, Eduardo Bonilla, Salvatore DiMauro, Michio Hirano, Darryl C. De Vivo, Charalampos L. Karadimas, Tuan H. Vu, Stephen A. Holve, Penelope Chronopoulou, Catarina Quinzii, Stanley D. Johnsen, Janice Kurth, Elizabeth Eggers, Lluis Palenzuela | |||
| NOTCH2 mutations cause alagille syndrome, a heterogeneous disorder of the Notch signaling pathway.(Clinical report) | Biological sciences | Ryan McDaniell, Daniel M. Warthen, Pedro A. Sanchez-Lara, Athma Pai, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner | |||
| Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.(Clinical report) | Biological sciences | J.M. Friedman, Steven J.M. Jones, Patricia Birch, Giulia C. Kennedy, Manqiu Cao, Martin Krzywinski, Dione K. Bailey, Gary Wilson, Agnes Baross, Allen D. Delaney, Adrian Ally, Laura Arbour, Jennifer Asano, Sarah Barber, Mabel Brown-John, Susanna Chan, David L. Charest, Noushin Farnoud, Nicole Fernandes, Stephane Flibotte, Anne Go, William T. Gibson, Robert A. Holt, Sylvie Langlois Haiyan I. Li, Barbara C. McGillivray, Tarun Nayar, Trevor J. Pugh, Evica Rajcan-Separovic, Jacqueline E. Schein, Angelique Schnerch, Asim Siddiqui, Margot I. Van Allen, Siu-Li Yong, Farah Zahir, Patrice Eydoux, Marco A. Marra | |||
| Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. | Biological sciences | M. Silberstein, A. Tzemach, N. Dovgolevsky, M. Fishelson, A. Schuster, D. Geiger | |||
| Ordered genotypes: An extended ITO method and a general formula for genetic covariance. | Biological sciences | Feng Dai, Daniel E. Weeks | |||
| Origins of the Human Genome Project: Why sequence the human genome when 96% of it is junk? | Biological sciences | Paul Berg | |||
| Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. | Biological sciences | Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White, Margot E. Kalf, Karoly Szuhai, Johan T. den Dunnen, Martijin H. Breuning, Raoul C.M. Hennekam | |||
| PLA2G6 mutation underlines infantile neuroaxonal dystrophy. | Biological sciences | Ohad S. Birk, Aharon Galil, Khalil Elbedour, Zamir Shorer, Rachel Levy, Ilan Shelef, Ginat Narkis, Gideon Vardi | |||
| Polymorphism in maternal LRP8 gene is associated with fetal growth.(Clinical report) | Biological sciences | Xin Xu, Nan Laird, Lin Wang, Xiaobin Wang, Barry Zukerman, Philip Stubblefield | |||
| Powerful multilocus tests of genetic association in the presence of gene-gene and gene-environment interactions.(Report) | Biological sciences | Sholom Wacholder, Nilanjan Chatterjee, Zeynep Kalaylioglu, Roxana Moslehi, Ulrike Peters | |||
| Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.(Report) | Biological sciences | John R. Heckenlively, Andrew R. Webster, James S. Friedman, Bo Chang, Chitra Kannabiran, Christina Chakarova, Hardeep P. Singh, Subhadra Jalali, Norman L. Hawes, Kari Branham, Mohammad Othman, Elena Filippova, Debra A. Thompson, Sten Andreasson, Samuel G. Jacobson, Shomi S. Bhattacharya, Anand Swaroop | |||
| Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease. | Biological sciences | Peter P. De Deyn, Christine Van Broeckhoven, Cornelia M. van Duijn, Jessie Theuns, Nathalie Brouwers, Sebastiaan Engelborghs, Kristel Sleegers, Veerle Bogaerts, Ellen Corsmit, Tim De Pooter | |||
| Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. | Biological sciences | James Cox, C. Geoffrey Woods, Martin McKibbin, Gulshan Karbani, Rowena Stern, Mustaq Ahmed, Kelly Springell, F. Lucy Raymond, Jacquelyn Bond, Daniel J. Hampshire, Richard Sandford, David Clayton, Moin D. Mohamed, Saghira Malik Sharif, Chris F. Inglehearn | |||
| Reconstructing genetic ancestry blocks in admixed individuals.(Clinical report) | Biological sciences | Neil Risch, Hua Tang, Marc Coram, Pei Wang, Xiaofeng Zhu | |||
| Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes. | Biological sciences | Cisca Wijmenga, Lude Franke, Harm van Bakel, Like Fokkens, Edwin D. de Jong, Michael Egmont-Peterson | |||
| Reduction of sample heterogeneity through use of population substructure: An example from a population of African American families with sarcoidosis.(Clinical report) | Biological sciences | Michael C. Iannuzzi, Robert C. Elston, Cheryl L. Thompson, Benjamin A. Rybicki, Sudha K. Iyengar, Courtney Gray-McGuire | |||
| Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.(Report) | Biological sciences | Colin A. Sieff, David G. Nathan, Jeffrey M. Lipton, Bertil Glader, Alan H. Beggs, Hanna T. Gazda, Agnieszka Grabowska, Lilia B. Merida-Long, Elzbieta Latawiec, Hal E. Schneider, Adrianna Vlachos, Eva Atsidaftos, Sarah E. Ball, Karen A. Orfali, Edyta Niewiadomska, Lydie Da Costa, Gil Tchernia, Charlotte Niemeyer, Joerg J. Meerpohl, Joachim Stahl, Gerhard Schratt, Karen Backer, Carolyn Wong | |||
| Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.(Clinical report) | Biological sciences | Olga Britanova, Victor Tarabykin, Michael J. Depew, Manuela Schwark, Bethan L. Thomas, Isabelle Miletich, Paul Sharpe | |||
| Schizophrenia and oxidative stress: Glutamate cysteine ligase modifier as a susceptibility gene. | Biological sciences | Jurg Ott, Josef Parnas, Thomas Werge, Mirjana Tosic, Sandra Barral, Pierre Bovet, Patricia Deppen, Fulvia Gheorghita, Marie-Louise Matthey, Martin Preisig, Michael Saraga, Alessandra Solida, Sally Timm, August G. Wang, Michel Cuenod, Kim Quang Do | |||
| Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. | Biological sciences | John J. Voorhees, Enno Christophers, Rajan P. Nair, Stefan Jenisch, Philip E. Stuart, Michael Weichenthal, James T. Elder, Ioana Nistor, Goncalo R. Abecasis, Ravi Hiremagalore, Henry W. Lim, Nicholas V. C. Chia | |||
| Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. | Biological sciences | Robert A. Hegele, Henian Cao, Dora M. Liu, Gary A. Costain, Valentine Charlton-Menys, N. Wilson Rodger, Paul N. Durrington | |||
| Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder. | Biological sciences | Guanshan Zhu, Xiang-Zhang Hu, Robert H. Lipsky, Longina A. Akhtar, Julie Taubman | |||
| Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. | Biological sciences | Stylianos E. Antonarakis, Giuseppe Merla, Cedric Howald, Charlotte N. Henrichsen, Robert Lyle, Carine Wyss, Marie-Therese Zabot, Alexandre Reymond | |||
| The affected-/discordant-sib-pair design can guarantee validity of multipoint model-free linkage analysis of incomplete pedigrees when there is marker-marker disequilibrium. | Biological sciences | Robert C. Elston, Qing Lu, Chao Xing, Ritwik Sinha, Guan Xing | |||
| The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alphaB-crystallin and HSP27d. | Biological sciences | Rong Li, Alan R. Prescott, Ming Der Perng, Mu Su, Shu Fang Wen, Terry Gibbon, Michael Brenner, Roy A. Quinlan | |||
| The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males. | Biological sciences | Han G. Brunner, Andrew O.M. Wilkie, John B. Mulliken, Stephen R.F. Twigg, Kazuya Matsumoto, Alexa M.J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Hoogeboom, Jeannette M., Irene M.J. Mathijssen, M. Teresa Lourenco, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Steven A. Wall | |||
| The value of molecular haplotypes in a family-based linkage study.(Clinical report) | Biological sciences | E.M. Gillanders, J.V. Pearson, A.J.M. Sorant, J.M. Trent, J.R. O'Connell, J.E. Bailey-Wilson | |||
| Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation. | Biological sciences | Charis Eng, Trinidad Caldes, Attila Patocs, Frank Weber, Lei Shen, Koichi Fukino, Geroge L. Mutter | |||
| Trait components provide tools to dissect the genetic susceptibility of migraine.(Clinical report) | Biological sciences | V. Anttila, M. Kallela, G. Oswell, M. A. Kaunisto, D. R. Nyholt, E. Hamalainen, H. Havanka, M. Ilmavirta, J. Terwilliger, E. Sobel, L. Peltonen, J. Kaprio, M. Farkkila, M. Wessman, A. Palotie | |||
| Tricellulin is a tight-junction protein necessary for hearing.(Report) | Biological sciences | Saima Riazuddin, Thomas B. Friedman, Zubair M. Ahmed, Ayala Lagziel, James M. Anderson, Alan S. Fanning, Shin-ichiro Kitajiri, Khusnooda Ramzan, Shaheen N. Khan, Parna Chattaraj, Penelope L. Friedman, Inna A. Belyantseva, Andrew Forge, Sheikh Riazuddin | |||
| UBE2A, which encodes an ubiquitin-conjugating enzyme, is mutated in novel x-linked mental retardation syndrome.(Clinical report) | Biological sciences | Rafaella M.P. Nascimento, Paulo A. Otto, Arjan P.M. de Brouwer, Angela M. Vianna-Morgante | |||
| Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: Application to Taybi-Linder syndrome. | Biological sciences | Annick Toutain, Anne-Louise Leutenegger, Audrey Labalme, Emmanuelle Genin, Elisabeth Steichen, Francoise Clerget-Darpoux, Patrick Edery | |||
| Variance calculations for identity-by-descent estimation. | Biological sciences | Nan M. Laird, Deborah Blacker, Matthew B. McQueen | |||
| Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment.(Clinical report) | Biological sciences | Madhukar H. Trivedi, Husseini Manji, Maurizio Fava, Stephen R. Wisniewski, Francis J. McMohan, Alexander F. Wilson, Silvia Buervenich, Alexa J. Sorant, Dennis Charney, George J. Papanicolaou, Robert Lipsky, Gonzalo Laje, John A. Rush | |||
| X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.(Clinical report) | Biological sciences | Charles E. Schwartz, Huntington F. Willard, Amos-Landgraf, James M., Amy Cottle, Robert M. Plenge, Mike Friez, John Longshore | |||
| ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. | Biological sciences | Walter Paulus, Wolfgang Engel, Ashraf U. Mannan, Philip Krawen, Simone M. Sauter, Johann Boehm, Agnieszka Chronowska, Juergen Neesen | |||
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