string(238) "select * FROM articoli_opac WHERE fonte <> 'ISI' AND fonte='ACNP' AND fasc_anno_pubbl='2007' 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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Results: 1-25 | 26-50 | 51-75 | 76-90

Articles table of contents

Results : 51-75/90

Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians

Authors: Fuku, Noriyuki Park, Kyong Soo Yamada, Yoshiji Nishigaki, Yutaka Cho, Young Min Matsuo, Hitoshi Segawa, Tomonori Watanabe, Sachiro Kato, Kimihiko Yokoi, Kiyoshi Nozawa, Yoshinori Lee, Hong Kyu Tanaka, Masashi

Journal: American journal of human genetics

Citation: Fuku, Noriyuki et al., Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians, American journal of human genetics , 80(3), 2007, pp. 407-415

Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

Authors: Nielsen, Karsten Bork Sørensen, Suzette Cartegni, Luca Corydon, Thomas Juhl Doktor, Thomas Koed Schroeder, Lisbeth Dahl Reinert, Line Sinnathamby Elpeleg, Orly Krainer, Adrian R Gregersen, Niels Kjems, Jørgen Andresen, Brage Storstein

Journal: American journal of human genetics

Citation: Nielsen, Karsten Bork et al., Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer, American journal of human genetics , 80(3), 2007, pp. 416-432

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Authors: Kranz, Christian Jungeblut, Christoph Denecke, Jonas Erlekotte, Anne Sohlbach, Christina Debus, Volker Kehl, Hans Gerd Harms, Erik Reith, Anna Reichel, Sonja Gröbe, Helfried Hammersen, Gerhard Schwarzer, Ulrich Marquardt, Thorsten

Journal: American journal of human genetics

Citation: Kranz, Christian et al., A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy, American journal of human genetics , 80(3), 2007, pp. 433-440

Evidence of Positive Selection on a Class I ADH Locus

Authors: Han, Yi Gu, Sheng Oota, Hiroki Osier, Michael V. Pakstis, Andrew J. Speed, William C. Kidd, Judith R. Kidd, Kenneth K.

Journal: American journal of human genetics

Citation: Han, Yi et al., Evidence of Positive Selection on a Class I ADH Locus, American journal of human genetics , 80(3), 2007, pp. 441-456

First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

Authors: Jaspers, Nicolaas G.J. Raams, Anja Cirillo Silengo, Margherita Wijgers, Nils Niedernhofer, Laura J. Robinson, Andria Rasile Giglia-Mari, Giuseppina Hoogstraten, Deborah Kleijer, Wim J. Hoeijmakers, Jan H.J. Vermeulen, Wim

Journal: American journal of human genetics

Citation: Jaspers, Nicolaas G.j et al., First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure, American journal of human genetics , 80(3), 2007, pp. 457-466

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

Authors: Basel-Vanagaite, Lina Attia, Revital Ishida-Yamamoto, Akemi Rainshtein, Limor Amitai, Dan Ben Lurie, Raziel Pasmanik-Chor, Metsada Indelman, Margarita Zvulunov, Alex Saban, Shirley Magal, Nurit Sprecher, Eli Shohat, Mordechai

Journal: American journal of human genetics

Citation: Basel-vanagaite, Lina et al., Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase, American journal of human genetics , 80(3), 2007, pp. 467-477

Overcoming the Winner.s Curse: Estimating Penetrance Parameters from Case-Control Data

Authors: Zöllner, Sebastian Pritchard, Jonathan K.

Journal: American journal of human genetics

Citation: Zöllner, Sebastian et K. Pritchard, Jonathan, Overcoming the Winner.s Curse: Estimating Penetrance Parameters from Case-Control Data, American journal of human genetics , 80(4), 2007, pp. 605-615

Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

Authors: Lu, Weining Van Eerde, Albertien M. Fan, Xueping Quintero-Rivera, Fabiola Kulkarni, Shashikant Ferguson, Heather Kim, Hyung-Goo Fan, Yanli Xi, Qiongchao Li, Qing-gang Sanlaville, Damien Andrews, William Sundaresan, Vasi Bi, Weimin Yan, Jiong Giltay, Jacques C Wijmenga, Cisca De Jong, Tom P. V.M. Feather, Sally A. Woolf, Adrian S. Maas, Richard L.

Journal: American journal of human genetics

Citation: Lu, Weining et al., Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux, American journal of human genetics , 80(4), 2007, pp. 616-632

Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

Authors: Potocki, Lorraine Bi, Weimin Treadwell-Deering, Diane Carvalho, Claudia M.B. Eifert, Anna Friedman, Ellen M. Glaze, Daniel Krull, Kevin Lee, Jennifer A. Lewis, Richard Alan Mendoza-Londono, Roberto Robbins-Furman, Patricia Shaw, Chad Shi, Xin Weissenberger, George Withers, Marjorie Yatsenko, Svetlana A. Zackai, Elaine H. Stankiewicz, Pawel Lupski, James R.

Journal: American journal of human genetics

Citation: Potocki, Lorraine et al., Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype, American journal of human genetics , 80(4), 2007, pp. 633-649

Peakwide Mapping on Chromosome 3q13 Identifies the Kalirin Gene as a Novel Candidate Gene for Coronary Artery Disease

Authors: Wang, Liyong Hauser, Elizabeth R. Shah, Svati H. Pericak-Vance, Margaret A. Haynes, Carol Crosslin, David Harris II, Marco Nelson, Sarah Hale, A. Brent Granger, Christopher B. Haines, Jonathan L. Jones, Christopher J.H. Crossman, David Seo, David Gregory, Simon G. Kraus, William E. Goldschmidt-Clermont, Pascal J. Vance, Jeffery M.

Journal: American journal of human genetics

Citation: Wang, Liyong et al., Peakwide Mapping on Chromosome 3q13 Identifies the Kalirin Gene as a Novel Candidate Gene for Coronary Artery Disease, American journal of human genetics , 80(4), 2007, pp. 650-663

A Genetic Association Study of Chromosome 11q22-24 in Two Different Samples Implicates the FXYD6 Gene, Encoding Phosphohippolin, in Susceptibility to Schizophrenia

Authors: Choudhury, Khalid McQuillin, Andrew Puri, Vinay Pimm, Jonathan Datta, Susmita Thirumalai, Srinivasa Krasucki, Robert Lawrence, Jacob Bass, Nicholas J Quested, Digby Crombie, Caroline Fraser, Gillian Walker, Nicholas Nadeem, Haitham Johnson, Sophie Curtis, David St-Clair, David M. Gurling, Hugh M.D.

Journal: American journal of human genetics

Citation: Choudhury, Khalid et al., A Genetic Association Study of Chromosome 11q22-24 in Two Different Samples Implicates the FXYD6 Gene, Encoding Phosphohippolin, in Susceptibility to Schizophrenia, American journal of human genetics , 80(4), 2007, pp. 664-672

Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol

Authors: Paré, Guillaume Serre, David Brisson, Diane Anand, Sonia S. Montpetit, Alexandre Tremblay, Gérald Engert, James C. Hudson, Thomas J. Gaudet, Daniel

Journal: American journal of human genetics

Citation: Paré, Guillaume et al., Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol, American journal of human genetics , 80(4), 2007, pp. 673-682

Leveraging the HapMap Correlation Structure in Association Studies

Authors: Zaitlen, Noah Kang, Hyun Min Eskin, Eleazer Halperin, Eran

Journal: American journal of human genetics

Citation: Zaitlen, Noah et al., Leveraging the HapMap Correlation Structure in Association Studies, American journal of human genetics , 80(4), 2007, pp. 683-691

The Strength of Selection on Ultraconserved Elements in the Human Genome

Authors: Chen, Christina T.L. Wang, Jen C. Cohen, Barak A.

Journal: American journal of human genetics

Citation: Chen, Christina T.l et al., The Strength of Selection on Ultraconserved Elements in the Human Genome, American journal of human genetics , 80(4), 2007, pp. 692-704

Association Mapping via Regularized Regression Analysis of Single-Nucleotide.Polymorphism Haplotypes in Variable-Sized Sliding Windows

Authors: Li, Yi Sung, Wing-Kin Liu, Jian Jun

Journal: American journal of human genetics

Citation: Li, Yi et al., Association Mapping via Regularized Regression Analysis of Single-Nucleotide.Polymorphism Haplotypes in Variable-Sized Sliding Windows, American journal of human genetics , 80(4), 2007, pp. 705-715

Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels

Authors: Reich, David Patterson, Nick Ramesh, Vijaya De Jager, Philip L. McDonald, Gavin J. Tandon, Arti Choy, Edwin Hu, Donglei Tamraz, Bani Pawlikowska, Ludmila Wassel, Christina Lynn Huntsman, Scott Waliszewska, Alicja Rossin, Elizabeth Li, Rongling Garcia, Melissa Reiner, Alexander Ferrell, Robert Cummings, Steve Kwok, Pui-Yan Ziv, Elad

Journal: American journal of human genetics

Citation: Reich, David et al., Admixture Mapping of an Allele Affecting Interleukin 6 Soluble Receptor and Interleukin 6 Levels, American journal of human genetics , 80(4), 2007, pp. 716-726

Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies

Authors: Kryukov, Gregory V. Pennacchio, Len A. Sunyaev, Shamil R.

Journal: American journal of human genetics

Citation: V. Kryukov, Gregory et al., Most Rare Missense Alleles Are Deleterious in Humans: Implications for Complex Disease and Association Studies, American journal of human genetics , 80(4), 2007, pp. 727-739

Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs

Authors: Eeds, A.M. Mortlock, D. Wade-Martins, R. Summar, M.L.

Journal: American journal of human genetics

Citation: Eeds, A.m et al., Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs, American journal of human genetics , 80(4), 2007, pp. 740-750

Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement

Authors: Gargiulo, Annagiusi Auricchio, Renata Barone, Maria Vittoria Cotugno, Gabriella Reardon, William Milla, Peter J. Ballabio, Andrea Ciccodicola, Alfredo Auricchio, Alberto

Journal: American journal of human genetics

Citation: Gargiulo, Annagiusi et al., Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement, American journal of human genetics , 80(4), 2007, pp. 751-758

The Methylenetetrahydrofolate Reductase 677C.T Polymorphism as a Modulator of a B Vitamin Network with Major Effects on Homocysteine Metabolism

Authors: Hustad, Steinar Midttun, Øivind Schneede, Jørn Vollset, Stein Emil Grotmol,Tom Ueland, Per Magne

Journal: American journal of human genetics

Citation: Hustad, Steinar et al., The Methylenetetrahydrofolate Reductase 677C.T Polymorphism as a Modulator of a B Vitamin Network with Major Effects on Homocysteine Metabolism, American journal of human genetics , 80(5), 2007, pp. 846-855

Genetic Linkage to Chromosome 22q12 for a Heavy-Smoking Quantitative Trait in Two Independent Samples

Authors: Saccone, Scott F. Pergadia, Michele L. Loukola, Anu Broms, Ulla Montgomery, Grant W. Wang, Jen C Agrawal, Arpana Dick, Danielle M. Heath, Andrew C. Todorov, Alexandre A. Maunu, Heidi Heikkilä, Kauko Morley, Katherine I. Rice, John P. Todd, Richard D. Kaprio, Jaakko Peltonen, Leena Martin, Nicholas G. Goate, Alison M. Madden, Pamela A.F.

Journal: American journal of human genetics

Citation: F. Saccone, Scott et al., Genetic Linkage to Chromosome 22q12 for a Heavy-Smoking Quantitative Trait in Two Independent Samples, American journal of human genetics , 80(5), 2007, pp. 856-866

Gene-Gene and Gene-Environment Interactions Involving HLA-DRB1, PTPN22, and Smoking in Two Subsets of Rheumatoid Arthritis

Authors: Källberg, Henrik Padyukov, Leonid Plenge, Robert M. Rönnelid, Johan Gregersen, Peter K Van der Helm-van Mil, Annette H.M. Toes, Rene E.M. Huizinga, Tom W. Klareskog, Lars Alfredsson, Lars

Journal: American journal of human genetics

Citation: Källberg, Henrik et al., Gene-Gene and Gene-Environment Interactions Involving HLA-DRB1, PTPN22, and Smoking in Two Subsets of Rheumatoid Arthritis, American journal of human genetics , 80(5), 2007, pp. 867-875

Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A

Authors: Heinzen, Erin L. Yoon, Woohyun Tate, Sarah K. Sen, Arjune Wood, Nicholas W. Sisodiya, Sanjay M. Goldstein, David B.

Journal: American journal of human genetics

Citation: L. Heinzen, Erin et al., Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A, American journal of human genetics , 80(5), 2007, pp. 876-883

The Himalayas as a Directional Barrier to Gene Flow

Authors: Gayden, Tenzin Cadenas, Alicia M. Regueiro, Maria Singh, Nanda B. Zhivotovsky, Lev A. Underhill, Peter A. Cavalli-Sforza, Luigi L. Herrera, Rene J.

Journal: American journal of human genetics

Citation: Gayden, Tenzin et al., The Himalayas as a Directional Barrier to Gene Flow, American journal of human genetics , 80(5), 2007, pp. 884-894

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

Authors: Kalb, Reinhard Neveling, Kornelia Hoehn, Holger Schneider, Hildegard Linka, Yvonne Batish, Sat Dev Hunt, Curtis Berwick, Marianne Callén, Elsa Surrallés, Jordi Casado, José A. Bueren, Juan Dasí, Ángeles Soulier, Jean Gluckman, Eliane Zwaan, C. Michel Van Spaendonk, Rosalina Pals, Gerard De Winter, Johan P. Joenje, Hans Schindler, Detlev

Journal: American journal of human genetics

Citation: Kalb, Reinhard et al., Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype, American journal of human genetics , 80(5), 2007, pp. 895-910

Results: 1-25 | 26-50 | 51-75 | 76-90