string(238) "select * FROM articoli_opac WHERE fonte <> 'ISI' AND fonte='ACNP' AND fasc_anno_pubbl='2004' AND fasc_issn='00029297' order by level desc, fasc_key desc, NULLIF(regexp_replace(pagina_ini, E'\\D', '', 'g'), '')::int asc offset 50 limit 25" ACNP - Italian Periodicals Catalogue
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Articles table of contents

Results : 51-75/138
High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene
Authors: Kehrer-Sawatzki, H. Kluwe, L. Sandig, C. Kohn, M. Wimmer, K. Krammer, U. Peyrl, A. Jenne, D.E. Hansmann, I. Mautner, V.-F.
Journal: American journal of human genetics
Citation: H. Kehrer-sawatzki, et al., High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene, American journal of human genetics , 75(3), 2004, pp. 410-423
Assessing Whether an Allele Can Account in Part for a Linkage Signal: The Genotype-IBD Sharing Test (GIST)
Authors: Li, Chun Scott, Laura J. Boehnke, Michael
Journal: American journal of human genetics
Citation: Li, Chun et al., Assessing Whether an Allele Can Account in Part for a Linkage Signal: The Genotype-IBD Sharing Test (GIST), American journal of human genetics , 74(3), 2004, pp. 418-431
Efficient Computation of Significance Levels for Multiple Associations in Large Studies of Correlated Data, Including Genomewide Association Studies
Authors: Dudbridge, Frank Koeleman, Bobby P.C.
Journal: American journal of human genetics
Citation: Dudbridge, Frank et Koeleman, Bobby P.c, Efficient Computation of Significance Levels for Multiple Associations in Large Studies of Correlated Data, Including Genomewide Association Studies, American journal of human genetics , 75(3), 2004, pp. 424-435
Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information
Authors: Fingerlin, Tasha E. Boehnke, Michael Abecasis, Gonçalo R.
Journal: American journal of human genetics
Citation: E. Fingerlin, Tasha et al., Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information, American journal of human genetics , 74(3), 2004, pp. 432-443
A Genomewide Scan for Early-Onset Coronary Artery Disease in 438 Families: The GENECARD Study
Authors: Hauser, Elizabeth R. Crossman, David C. Granger, Christopher B. Haines, Jonathan L. Jones, Christopher J.H. Mooser, Vincent McAdam, Brendan Winkelmann, Bernhard R. Wiseman, Alan H. Muhlestein, J. Brent Bartel, Alan G. Dennis, Charles A. Dowdy, Elaine Estabrooks, Susan Eggleston, Karen Francis, Sheila Roche, Kath Clevenger, Paula W. Huang, Liling Pedersen, Bonnie Shah, Svati Schmidt, Silke Haynes, Carol West, Sandra Asper, Donny Booze, Michael Sharma, Sanjay Sundseth, Scott Middleton, Lefkos Roses, Allen D. Hauser, Michael A. Vance, Jeffrey M. Pericak-Vance, Margaret A. Kraus, William E:
Journal: American journal of human genetics
Citation: R. Hauser, Elizabeth et al., A Genomewide Scan for Early-Onset Coronary Artery Disease in 438 Families: The GENECARD Study, American journal of human genetics , 75(3), 2004, pp. 436-447
Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age
Authors: Asselt, Kristel M., Van Kok, Helen S. Putter, Hein Wijimenga, Cisca Peeters, Petra H.M. Schouw, Yvonne T., Van : der Grobbee, Diederick E. te Velde, Egbert R. Mosselman, Sietse Pearson, Peter L.
Journal: American journal of human genetics
Citation: Asselt, Kristel M., Van et al., Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age, American journal of human genetics , 74(3), 2004, pp. 444-453
Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12
Authors: Stambolian, Dwight Ibay, Grace Reider, Lauren Dana, Debra Moy, Chris Schlifka, Melissa Holmes, Taura Ciner, Elise Bailey-WIlson, Joan E.
Journal: American journal of human genetics
Citation: Stambolian, Dwight et al., Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12, American journal of human genetics , 75(3), 2004, pp. 448-459
The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade
Authors: Salas, Antonio Richards, Martin Lareu, Marìa-Victoria Scozzari, Rosaria Coppa, Alfredo Torroni, Antonio Macaulay, Vincent Carracedo, Ángel
Journal: American journal of human genetics
Citation: Salas, Antonio et al., The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade, American journal of human genetics , 74(3), 2004, pp. 454-465
A Major Lung Cancer Susceptibility Locus Maps to Chromosome 6q23.25
Authors: Bailey-Wilson, J. E. Amos, C.I. Pinney, S.M. Petersen, G.M. de Andrade, M. Wiest, J.S. Fain, P. Schwartz, A.G. You, M. Franklin, W. Klein, C. Gazdar, A. Rothschild, H. Mandal, D. Coons, T. Slusser, J. Lee, J. Gaba, C. Kupert, E. Perez, A. Zhou, X. Zeng, D. Liu, Q. Zhang, Q. Seminara, D. Minna, J. Anderson, M.W.
Journal: American journal of human genetics
Citation: E. Bailey-wilson, J. et al., A Major Lung Cancer Susceptibility Locus Maps to Chromosome 6q23.25, American journal of human genetics , 75(3), 2004, pp. 460-474
Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan
Authors: Inagaki, Katsuhiko Suzuki, Tamio Shimizu, Hiroshi Ishii, Norihisa Umezawa, Yoshinori Tada, Joji Kikuchi, Noriaki Takata, Minoru Takamori, Kenji Kishibe, Mari Tanaka, Michi Miyamura, Yoshinori Ito, Shiro Tomita, Yasushi
Journal: American journal of human genetics
Citation: Inagaki, Katsuhiko et al., Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan, American journal of human genetics , 74(3), 2004, pp. 466-471
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
Authors: Schwarz, Markus Thiel, Christian Lübbehusen, Jürgen Dorland, Bert de Koning, Tom von Figura, Kurt Lehle, Ludwig Körner, Christian
Journal: American journal of human genetics
Citation: Schwarz, Markus et al., Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik, American journal of human genetics , 74(3), 2004, pp. 472-481
Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor.like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)
Authors: Chiang, Annie P. Nishimura, Darryl Searby, Charles Elbedour, Khalil Carmi, Rivka Ferguson, Amanda L. Secrist, Jenifer Braun, Terry Casavant, Thomas Stone, Edwin M. Sheffield, Val C.
Journal: American journal of human genetics
Citation: P. Chiang, Annie et al., Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor.like Gene as the Cause of Bardet-Biedl Syndrome (BBS3), American journal of human genetics , 75(3), 2004, pp. 475-484
Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease
Authors: Abecasis, Gonçalo R. Yashar, Beverly M. Zhao, Yu Ghiasvand, Noor M. Zareparsi, Sepideh Branham, Kari E.H. Reddick, Adam C. Trager, Edward H. Yoshida, Shigeo Bahling, John Filippova, Elena Elner, Susan Johnson, Mark W. Vine, Andrew K. Sieving, Paul A. Jacobson, Samuel G. Richards, Julia E. Swaroop, Anand
Journal: American journal of human genetics
Citation: R. Abecasis, Gonçalo et al., Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease, American journal of human genetics , 74(3), 2004, pp. 482-494
Incorporating Genotyping Uncertainty in Haplotype Inference for Single-Nucleotide Polymorphisms
Authors: Kang, Hosung Qin, Zhaohui S. Niu, Tianhua Liu, Jun S.
Journal: American journal of human genetics
Citation: Kang, Hosung et al., Incorporating Genotyping Uncertainty in Haplotype Inference for Single-Nucleotide Polymorphisms, American journal of human genetics , 74(3), 2004, pp. 495-510
X-Chromosome Inactivation Patterns Are Unbalanced and Affect the Phenotypic Outcome in a Mouse Model of Rett Syndrome
Authors: Young, Juan I. Zoghbi, Huda Y.
Journal: American journal of human genetics
Citation: I. Young, Juan et Y. Zoghbi, Huda, X-Chromosome Inactivation Patterns Are Unbalanced and Affect the Phenotypic Outcome in a Mouse Model of Rett Syndrome, American journal of human genetics , 74(3), 2004, pp. 511-520
Human Male Recombination Maps for Individual Chromosomes
Authors: Sun, Fei Oliver-Bonet, Maria Liehr, Thomas Starke, Heike Ko, Evelyn Rademaker, Alfred Navarro, Joaquima Benet, Jordi Martin, Renée
Journal: American journal of human genetics
Citation: Sun, Fei et al., Human Male Recombination Maps for Individual Chromosomes, American journal of human genetics , 74(3), 2004, pp. 521-531
The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations
Authors: Luis, J.R. Rowold, D.J. Regueiro, M. Caeiro, B. Cinnio.lu, C. Roseman, C. Underhill, P.A. Cavalli-Sforza, L.L. Herrera, R.J.
Journal: American journal of human genetics
Citation: Luis, J.r et al., The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations, American journal of human genetics , 74(3), 2004, pp. 532-544
Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
Authors: Goldgar, David E. Easton, Douglas F. Deffenbaugh, Amie M. Monteiro, Alvaro N. A. Tavtigian, Sean V. Couch, Fergus J. Breast Cancer Information Core (BIC) Steering Committee
Journal: American journal of human genetics
Citation: E. Goldgar, David et al., Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2, American journal of human genetics , 75(4), 2004, pp. 535-544
Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I
Authors: Kranz, Christian Denecke, Jonas Lehle, Ludwig Sohlbach, Kristina Jeske, Stefanie Meinhardt, Friedhelm Rossi, Rainer Gudowius, Sonja Marquardt, Thorsten
Journal: American journal of human genetics
Citation: Kranz, Christian et al., Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I, American journal of human genetics , 74(3), 2004, pp. 545-551
Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region
Authors: Pashou, P. Feng, Y. Pakstis, A.J. Speed, W.C. DeMille, M.M. Kidd, J.R. Jaghori, B. Kurlan, R. Pauls, D.L. Sandor, P. Barr, C.L. Kidd, K.K.
Journal: American journal of human genetics
Citation: P. Pashou, et al., Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region, American journal of human genetics , 75(4), 2004, pp. 545-560
A Powerful Strategy to Account for Multiple Testing in the Context of Haplotype Analysis
Authors: Becker, Tim Knapp, Michael
Journal: American journal of human genetics
Citation: Becker, Tim et Knapp, Michael, A Powerful Strategy to Account for Multiple Testing in the Context of Haplotype Analysis, American journal of human genetics , 75(4), 2004, pp. 561-570
Transmission-Ratio Distortion and Allele Sharing in Affected Sib Pairs: A New Linkage Statistic with Reduced Bias, with Application to Chromosome 6q25.3
Authors: Lemire, Mathieu Roslin, Nicole M. Laprise, Catherine Hudson, Thomas J. Morgan, Kenneth
Journal: American journal of human genetics
Citation: Lemire, Mathieu et al., Transmission-Ratio Distortion and Allele Sharing in Affected Sib Pairs: A New Linkage Statistic with Reduced Bias, with Application to Chromosome 6q25.3, American journal of human genetics , 75(4), 2004, pp. 571-586
The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis
Authors: Timms, Andrew E. Crane, Alison M. Sims, Anne-Marie Cordell, Heather J. Bradbury, Linda A. Duuff, Gordon W. Calin, Andrei Cardon, Lon R. Abbott, Aaron Coyne, Mark R.E. Beynon, Owen Herzberg, Ibi Wordsworth, B. Paul Brown, Matthew A.
Journal: American journal of human genetics
Citation: E. Timms, Andrew et al., The Interleukin 1 Gene Cluster Contains a Major Susceptibility Locus for Ankylosing Spondylitis, American journal of human genetics , 75(4), 2004, pp. 587-595
Mutation History of the Roma/Gypsies
Authors: Morar, Bharti Gresham, David Angelicheva, Dora Tournev, Ivailo Gooding, Rebecca Guergueltcheva, Velina Schmidt, Carolin Abicht, Angela Lochmüller, Hanns Tordai, Attila Kalmàr, Lajos Nagy, Melinda Karcagi, Veronika Jeanpierre, Marc Herczegfalvi, Agnes Beeson, David Venkataraman, Viswanathan Carter, Kim Warwick Reeve, Jeff de Pablo, Rosario Ku.inskas, Vaidutis Kalaydjieva, Luba
Journal: American journal of human genetics
Citation: Morar, Bharti et al., Mutation History of the Roma/Gypsies, American journal of human genetics , 75(4), 2004, pp. 596-609
NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations
Authors: Gillia, Lynette A. McCallum, Jennifer Kaur, Maninder DeScipio, Cheryl Yaeger, Dinah Mariani, Allison Kline, Antoine D. Li, Hui-hua Devoto, Marcella Jackson, Laird G. Krantz, Ian D.
Journal: American journal of human genetics
Citation: A. Gillia, Lynette et al., NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations, American journal of human genetics , 75(4), 2004, pp. 610-623
Results: 1-25 | 26-50 | 51-75 | 76-100 | >>