string(238) "select * FROM articoli_opac WHERE fonte <> 'ISI' AND fonte='ACNP' AND fasc_anno_pubbl='2002' AND fasc_issn='00029297' order by level desc, fasc_key desc, NULLIF(regexp_replace(pagina_ini, E'\\D', '', 'g'), '')::int asc offset 25 limit 25" ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-50 | 51-75 | 76-85

Articles table of contents

Results : 26-50/85

Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization

Authors: White, Stefan Kalf, Margot Liu, Qiang Villerius, Michel Engelsma, Dieuwke Kriek, Marjolein Vollebregt, Ellen Bakker, Bert van Ommen, Gert-Jan B. Breuning, Martijn H. den Dunnen, Johan T.

Journal: American journal of human genetics

Citation: White, Stefan et al., Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization, American journal of human genetics , 71(2), 2002, pp. 365-374

Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17

Authors: Kehrer-Sawatzki, Hildegard Schreiner, Bettina Tänzer, Simone Platzer, Mathias Müller, Stefan Hameister, Horst

Journal: American journal of human genetics

Citation: Kehrer-sawatzki, Hildegard et al., Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17, American journal of human genetics , 71(2), 2002, pp. 375-388

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-.1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Authors: Takahara, Kazuhiko Schwarze, Ulrike Imamura, Yasutada Hoffman, Guy G. Toriello, Helga Smith, Lynne T. Byers,Peter H. Greenspan, Daniel S.

Journal: American journal of human genetics

Citation: Takahara, Kazuhiko et al., Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-.1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I, American journal of human genetics , 71(3), 2002, pp. 451-465

A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia

Authors: Zerjal, Tatiana Wells, Spencer R. Yuldasheva, Nadira Ruzibakiev, Ruslan Tyler-Smith, Chris

Journal: American journal of human genetics

Citation: Zerjal, Tatiana et al., A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia, American journal of human genetics , 71(3), 2002, pp. 466-482

A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24

Authors: Hakonarson, Hakon Bjornsdottir, Unnur S. Halapi, Eva Palsson, Snaebjorn Adalsteinsdottir, Elva Gislason, David Finnbogason, Gudmundur Gislason, Thorarinn Kristjansson, Kristleifur Arnason, Thor Birkisson, Illugi Frigge, Michael L. Kong, Augustine Gulcher, Jeffrey R. Stefansson, Kari

Journal: American journal of human genetics

Citation: Hakonarson, Hakon et al., A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24, American journal of human genetics , 71(3), 2002, pp. 483-491

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Authors: Hackman, Peter Vihola, Anna Haravouri, Henna Marchand, Sylvie Sarparanta, Jaakko de Seze, Jerome Labeit, Siegfried Witt, Christian Peltonen, Leena Richard, Isabelle Udd, Bjarne

Journal: American journal of human genetics

Citation: Hackman, Peter et al., Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin, American journal of human genetics , 71(3), 2002, pp. 492-500

Contributions of 18 Additional DNA Sequence Variations in the Gene Encoding Apolipoprotein E to Explaining Variation in Quantitative Measures of Lipid Metabolism

Authors: Stengård, Jari H. Clark, Andrew G. Weiss, Kenneth M. Kardia, Sharon Nickerson, Deborah A. Salomaa, Veikko Ehnholm, Christian Boerwinkle, Eric Sing, Charles F.

Journal: American journal of human genetics

Citation: H. Stengård, Jari et al., Contributions of 18 Additional DNA Sequence Variations in the Gene Encoding Apolipoprotein E to Explaining Variation in Quantitative Measures of Lipid Metabolism, American journal of human genetics , 71(3), 2002, pp. 501-517

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Authors: Eymard-Pierre, Eleonore Lesca, Gaetan Dollet, Sandra Santorelli, Filippo Maria di Capua, Matteo Bertini, Enrico Boespflug-Tanguy, Odile

Journal: American journal of human genetics

Citation: Eymard-pierre, Eleonore et al., Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene, American journal of human genetics , 71(3), 2002, pp. 518-527

DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5. of the CYP1A2 Gene: Implications for Human Population History and Natural Selection

Authors: Wooding, S.P. Watkins, W.S. Bamshad, M.J. Dunn, D.M. Weiss, R.B. Jorde, L.B.

Journal: American journal of human genetics

Citation: Wooding, S.p et al., DNA Sequence Variation in a 3.7-kb Noncoding Sequence 5. of the CYP1A2 Gene: Implications for Human Population History and Natural Selection, American journal of human genetics , 71(3), 2002, pp. 528-542

Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus

Authors: Graham, Robert R. Ortmann, Ward A. Langefeld, Carl D. Jawaheer, Damini Selby, Scott A. Rodine, Peter R. Baechler, Emily C. Rohlf, Kristine E. Shark, Katherine B. Espe, Karl J. Green, Linda E. Nair, Rajan P. Stuart, Philip E. Elder, James T. King, Richard A. Moser, Kathy L. Gaffney, Patrick M. Bugawan, Teodorica L. Erlich, Henry A. Rich, Stephen S. Gregersen, Peter K. Behrens, Timothy W.

Journal: American journal of human genetics

Citation: R. Graham, Robert et al., Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus, American journal of human genetics , 71(3), 2002, pp. 543-553

Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism.Based Map Defines Genetic Variation at PSORS1, the Major Psoriasis-Susceptibility Locus

Authors: Veal, Colin D. Capon, Francesca Allen, Michael H. Heath, Emma K. Evans, Julie C. Jones, Andrew Patel, Shanta Burden, David Tillman, David Barker, Jonathan N.W.N Trembath, Richard C.

Journal: American journal of human genetics

Citation: D. Veal, Colin et al., Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism.Based Map Defines Genetic Variation at PSORS1, the Major Psoriasis-Susceptibility Locus, American journal of human genetics , 71(3), 2002, pp. 554-564

Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate

Authors: Ophoff, Roel A. Escamilla, Michael A. Service, Susan K. Spesny, Mitzi Gallegos, Alvaro Mathews, Carol Neylan, Thomas Batki, Steven L. Roche, Erin Ramirez, Margarita Silva, Sandra De Mille, Melissa C. Dong, Penny Leon, Pedro E. Reus, Victor I. Sandkuijl, Lodewijk A. Freimer, Nelson B. Meshi, Dar B. Poon, Wingman Molina, Julio

Journal: American journal of human genetics

Citation: A. Ophoff, Roel et al., Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate, American journal of human genetics , 71(3), 2002, pp. 565-574

Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits

Authors: Lange, Christoph Laird, Nan M.

Journal: American journal of human genetics

Citation: Lange, Christoph et M. Laird, Nan, Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits, American journal of human genetics , 71(3), 2002, pp. 575-584

Dissecting the Genetic Complexity of the Association between Human Leukocyte Antigens and Rheumatoid Arthritis

Authors: Jawaheer, Damini Li, Wentian Graham, Robert R. Chen, Wei Damle, Aarti Xiao, Xiangli Monteiro, Joanita Khalili, Houman Lee, Annette Lundsten, Robert Begovich, Ann Bugawan, Teodorica Erlich, Henry Elder, James T. Criswell, Lindsey A. Seldin, Michael F. Amos, Christopher I. Behrens, Timothy W. Gregsen, Peter K.

Journal: American journal of human genetics

Citation: Jawaheer, Damini et al., Dissecting the Genetic Complexity of the Association between Human Leukocyte Antigens and Rheumatoid Arthritis, American journal of human genetics , 71(3), 2002, pp. 585-594

Contribution of BRCA1 and BRCA2 Mutations to Breast and Ovarian Cancer in Pakistan

Authors: Liede, Alexander Malik, Imtiaz A. Aziz, Zeba de los Rios, Patricia Kwan, Elaine Narod, Steven A.

Journal: American journal of human genetics

Citation: Liede, Alexander et al., Contribution of BRCA1 and BRCA2 Mutations to Breast and Ovarian Cancer in Pakistan, American journal of human genetics , 71(3), 2002, pp. 595-606

Predictors of the Risk of Mortality in Neurofibromatosis 2

Authors: Evans, D. Gareth R. Baser, Michael E. Friedman, J.M. Aeschliman, Dana Joe, Harry Wallace, Andrew J. Ramsden, Richard T.

Journal: American journal of human genetics

Citation: R. Evans, D. Gareth et al., Predictors of the Risk of Mortality in Neurofibromatosis 2, American journal of human genetics , 71(4), 2002, pp. 715-723

Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations

Authors: Yoshida, Taketoshi Kanegane, Hirokazu Osato, Motomi Yanagida, Masatoshi Miyawaki, Toshio Ito, Yoshiaki Shigesada, Katsuya

Journal: American journal of human genetics

Citation: Yoshida, Taketoshi et al., Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations, American journal of human genetics , 71(4), 2002, pp. 724-738

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Authors: Ferreiro, Ana Quijano-Roy, Susana Pichereau, Claire Moghadaszadeh, Behzad Goemans, Nathalie Bönnemann, Carsten Jungbluth, Heinz Straub, Volker Villanova, Marcello Leroy, Jean-Paul Romero, Norma B. Martin, Jean-Jacques Muntoni, Francesco Voit, Thomas Estournet, Brigitte RIchard, Pascale Fardeau, Michel Guicheney, Pascale

Journal: American journal of human genetics

Citation: Ferreiro, Ana et al., Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies, American journal of human genetics , 71(4), 2002, pp. 739-749

Association between a High-Expressing Interferon-. Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients

Authors: Dabora, Sandra L. Roberts, Penelope Nieto, Andres Perez, Ron Jozwiak, Sergiusz Sims, Katherine Kwiatkowski, David J. Franz, David Bissler, John Thiele, Elizabeth A.

Journal: American journal of human genetics

Citation: L. Dabora, Sandra et al., Association between a High-Expressing Interferon-. Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients, American journal of human genetics , 71(4), 2002, pp. 750-758

High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex

Authors: Cullen, Michael Perfetto, Stephen P. Klitz, William Nelson, George Carrington, Mary

Journal: American journal of human genetics

Citation: Cullen, Michael et al., High-Resolution Patterns of Meiotic Recombination across the Human Major Histocompatibility Complex, American journal of human genetics , 71(4), 2002, pp. 759-776

A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27

Authors: Auranen, Mari Vanhala, Raija Varilo, Teppo Ayers, Kristin Kempas, Elli Ylisaukko-oja, Tero Sinsheimer, Janet S. Peltonen, Leena Järvelä, Irma

Journal: American journal of human genetics

Citation: Auranen, Mari et al., A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27, American journal of human genetics , 71(4), 2002, pp. 777-790

Gene Expression Phenotype in Heterozygous Carriers of Ataxia Telangiectasia

Authors: Watts, Jason A. Morley, Michael Burdick, Joshua T. Fiori, Jennifer L. Ewens, Warren J. Spielman, Richard S. Cheung, Vivian G.

Journal: American journal of human genetics

Citation: A. Watts, Jason et al., Gene Expression Phenotype in Heterozygous Carriers of Ataxia Telangiectasia, American journal of human genetics , 71(4), 2002, pp. 791-800

Elevated Minisatellite Mutation Rate in the Post-Chernobyl Families from Ukraine

Authors: Dubrova, Yuri E. Grant, Gemma Chumak, Anatoliy Stezhka, Vasyl A. Karakasian, Angela N.

Journal: American journal of human genetics

Citation: E. Dubrova, Yuri et al., Elevated Minisatellite Mutation Rate in the Post-Chernobyl Families from Ukraine, American journal of human genetics , 71(4), 2002, pp. 801-809

Determining the One, Two, Three, or Four Long and Short Loci of Human Complement C4 in a Major Histocompatibility Complex Haplotype Encoding C4A or C4B Proteins

Authors: Chung, Erwin K. Yang, Yan Rennebohm, Robert M. Blanchong, Carol A. Yung Yu, C. Rupert, Kristi L. Jones, Karla N.

Journal: American journal of human genetics

Citation: K. Chung, Erwin et al., Determining the One, Two, Three, or Four Long and Short Loci of Human Complement C4 in a Major Histocompatibility Complex Haplotype Encoding C4A or C4B Proteins, American journal of human genetics , 71(4), 2002, pp. 810-822

Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

Authors: Inoue, Ken Osaka, Hitoshi Thurston, Virginia C. Clarke, Joe T.R. Yoneyama, Akira Rosenbarker, Lisa Bird, Thomas D. Hodes, M.E. Shaffer, Lisa G. Lupski, James R.

Journal: American journal of human genetics

Citation: Inoue, Ken et al., Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females, American journal of human genetics , 71(4), 2002, pp. 838-853

Results: 1-25 | 26-50 | 51-75 | 76-85