string(239) "select * FROM articoli_opac WHERE fonte <> 'ISI' AND fonte='ACNP' AND fasc_anno_pubbl='2006' AND fasc_issn='00029297' order by level desc, fasc_key desc, NULLIF(regexp_replace(pagina_ini, E'\\D', '', 'g'), '')::int asc offset 100 limit 25" ACNP - Italian Periodicals Catalogue

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Results: << | 101-125 | 126-126

Articles table of contents

Results : 101-125/126

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

Authors: Zhou, Haiyan Brockington, Martin Jungbluth, Heinz Monk, David Stanier, Philip Sewry, Caroline A. Moore, Gudrun E. Muntoni, Francesco

Journal: American journal of human genetics

Citation: Zhou, Haiyan et al., Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies, American journal of human genetics , 79(5), 2006, pp. 859-868

Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs

Authors: Smeitink, Jan A.M. Elpeleg, Orly Antonicka, Anna Diepstra, Heleen Saada, Ann Smits, Paulien Sasarman, Florin Vriend, Gert Jacob-Hirsch, Jasmine Shaag, Avraham Rechavi, Gideon Welling, Brigitte Horst, Jürgen Rodenburg, Richard J. Van den Heuvel, Bert Shoubridge, Eric A.

Journal: American journal of human genetics

Citation: Smeitink, Jan A.m et al., Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs, American journal of human genetics , 79(5), 2006, pp. 869-877

Mutations of the Mitochondrial Holocytochrome c.Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

Authors: Wimplinger, Isabella Morleo, Manuela Rosenberger, Georg Iaconis, Daniela Orth, Ulrike Meinecke, Peter Lerer, Israela Ballabio, Andrea Gal, Andreas Franco, Brunella Kutsche, Kerstin

Journal: American journal of human genetics

Citation: Wimplinger, Isabella et al., Mutations of the Mitochondrial Holocytochrome c.Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome, American journal of human genetics , 79(5), 2006, pp. 878-889

A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination

Authors: Lindsay, Sarah J. Khajavi, Mehrdad Lupski, James R. Hurles, Matthew E.

Journal: American journal of human genetics

Citation: J. Lindsay, Sarah et al., A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination, American journal of human genetics , 79(5), 2006, pp. 890-902

Multilocus Association Mapping Using Variable-Length Markov Chains

Authors: Browning, Sharon R.

Journal: American journal of human genetics

Citation: R. Browning, Sharon, Multilocus Association Mapping Using Variable-Length Markov Chains, American journal of human genetics , 78(6), 2006, pp. 903-913

Analysis of High-Resolution HapMap of DTNBP1 (Dysbindin) Suggests No Consistency between Reported Common Variant Associations and Schizophrenia

Authors: Mutsuddi, Mousumi Morris, Derek W. Waggoner, Skye G. Daly, Mark J. Scolnick, Edward M. Sklar, Pamela

Journal: American journal of human genetics

Citation: Mutsuddi, Mousumi et al., Analysis of High-Resolution HapMap of DTNBP1 (Dysbindin) Suggests No Consistency between Reported Common Variant Associations and Schizophrenia, American journal of human genetics , 79(5), 2006, pp. 903-909

Mapping Trait Loci by Use of Inferred Ancestral Recombination Graphs

Authors: Minichiello, Mark J. Durbin, Richard

Journal: American journal of human genetics

Citation: J. Minichiello, Mark et Durbin, Richard, Mapping Trait Loci by Use of Inferred Ancestral Recombination Graphs, American journal of human genetics , 79(5), 2006, pp. 910-922

Variance Calculations for Identity-by-Descent Estimation

Authors: McQueen, Matthew B. Blacker, Deborah Laird, Nan M.

Journal: American journal of human genetics

Citation: B. Mcqueen, Matthew et al., Variance Calculations for Identity-by-Descent Estimation, American journal of human genetics , 78(6), 2006, pp. 914-921

Online System for Faster Multipoint Linkage Analysis via Parallel Execution on Thousands of Personal Computers

Authors: Silberstein, M. Tzemach, A. Dovgolevsky, N. Fishelson, M. Schuster, A. Geiger, D.

Journal: American journal of human genetics

Citation: M. Silberstein, et al., Online System for Faster Multipoint Linkage Analysis via Parallel Execution on Thousands of Personal Computers, American journal of human genetics , 78(6), 2006, pp. 922-935

Mutation-Positive and Mutation-Negative Patients with Cowden and Bannayan-Riley-Ruvalcaba Syndromes Associated with Distinct 10q Haplotypes

Authors: Pezzolesi, Marcus G. Li, Yan Zhou, Xiao-Ping Pilarski, Robert Shen, Lei Eng, Charis

Journal: American journal of human genetics

Citation: G. Pezzolesi, Marcus et al., Mutation-Positive and Mutation-Negative Patients with Cowden and Bannayan-Riley-Ruvalcaba Syndromes Associated with Distinct 10q Haplotypes, American journal of human genetics , 79(5), 2006, pp. 923-934

Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

Authors: Theuns, Jessie Brouwers, Nathalie Engelborghs, Sebastiaan Sleegers, Kristel Bogaerts, Veerle Corsmit, Ellen De Pooter, Tim Van Duijn, Cornelia M De Deyn, Peter P. Van Broeckhoven, Christine

Journal: American journal of human genetics

Citation: Theuns, Jessie et al., Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease, American journal of human genetics , 78(6), 2006, pp. 936-946

A Mutation of .-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia

Authors: Procaccio, Vincent Salazar, Gloria Ono, Shoichiro Styers, Melanie L. Gearing, Marla Davila, Antonio Jimenez, Richard Juncos, Jorge Gutekunst, Claire-Anne Meroni, Germana Fontanella, Bianca Sontag, Estelle Sontag, Jean Marie Faundez, Victor Wainer, Bruce H.

Journal: American journal of human genetics

Citation: Procaccio, Vincent et al., A Mutation of .-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia, American journal of human genetics , 78(6), 2006, pp. 947-960

Total-Genome Analysis of BRCA1/2-Related Invasive Carcinomas of the Breast Identifies Tumor Stroma as Potential Landscaper for Neoplastic Initiation

Authors: Weber, Frank Shen, Lei Fukino, Koichi Patocs, Attila Mutter, George L. Caldes, Trinidad Eng, Charis

Journal: American journal of human genetics

Citation: Weber, Frank et al., Total-Genome Analysis of BRCA1/2-Related Invasive Carcinomas of the Breast Identifies Tumor Stroma as Potential Landscaper for Neoplastic Initiation, American journal of human genetics , 78(6), 2006, pp. 961-972

Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene: Multiple Significant Associations with Alcohol Dependence

Authors: Luo, Xingguang Kranzler, Henry R. Luo, Lingjun Wang, Shuang Schork, Nicholas J. Gelernter, Joel

Journal: American journal of human genetics

Citation: Luo, Xingguang et al., Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene: Multiple Significant Associations with Alcohol Dependence, American journal of human genetics , 78(6), 2006, pp. 973-987

Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder

Authors: Steinfeld, Robert Reinhardt, Konstanze Schreiber, Kathrin Hillebrand, Merle Kraetzner, Ralph Brück, Wolfgang Saftig, Paul Gärtner, Jutta

Journal: American journal of human genetics

Citation: Steinfeld, Robert et al., Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder, American journal of human genetics , 78(6), 2006, pp. 988-998

A Common Haplotype of the Glucokinase Gene Alters Fasting Glucose and Birth Weight: Association in Six Studies and Population-Genetics Analyses

Authors: Weedon, Michael N. Clark, Vanessa J. Qian, Yudong Ben-Shlomo, Yoav Timpson, Nicholas Ebrahim, Shah Lawlor, Debbie A. Pembrey, Marcus E. Ring, Susan Wilkin, Terry J. Voss, Linda D Jeffery, Alison N. Metcalf, Brad Ferrucci, Luigi Corsi, Anna Maria Murray, Anna Melzer, David Knight, Bridget Shields, Bev Smith, George Davey Frayling, Tim M.

Journal: American journal of human genetics

Citation: N. Weedon, Michael et al., A Common Haplotype of the Glucokinase Gene Alters Fasting Glucose and Birth Weight: Association in Six Studies and Population-Genetics Analyses, American journal of human genetics , 79(6), 2006, pp. 991-1001

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Authors: Twigg, Stephen R.F. Matsumoto, Kazuya Kidd, Alexa M.J Goriely, Anne Taylor, Indira B. Fisher, Richard B. Hoogeboom, A. Jeannette M. Mathijssen, Irene M.J. Lourenço, M. Teresa Morton, Jenny E.V. Sweeney, Elizabeth Wilson, Louise C. Brunner, Han G. Mulliken, John B. Wall, Steven A. Wilkie, Andrew O.M

Journal: American journal of human genetics

Citation: Twigg, Stephen R.f et al., The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males, American journal of human genetics , 78(6), 2006, pp. 999-1010

Powerful Multilocus Tests of Genetic Association in the Presence of Gene-Gene and Gene-Environment Interactions

Authors: Chatterjee, Nilanjan Kalaylioglu, Zeynep Moslehi, Roxana Peters, Ulrike Wacholder, Sholom

Journal: American journal of human genetics

Citation: Chatterjee, Nilanjan et al., Powerful Multilocus Tests of Genetic Association in the Presence of Gene-Gene and Gene-Environment Interactions, American journal of human genetics , 79(6), 2006, pp. 1002-1016

Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes

Authors: Franke, Lude Van Bakel Fokkens, Like De Jong, Edwin D. Egmont-Petersen, Mihael Wijmenga, Cisca

Journal: American journal of human genetics

Citation: Franke, Lude et al., Reconstruction of a Functional Human Gene Network, with an Application for Prioritizing Positional Candidate Genes, American journal of human genetics , 78(6), 2006, pp. 1011-1025

Biochemical and Genetic Analysis of ANK in Arthritis and Bone Disease

Authors: Gurley, Kyle A. Reimer, Richard J. Kingsley, David M.

Journal: American journal of human genetics

Citation: A. Gurley, Kyle et al., Biochemical and Genetic Analysis of ANK in Arthritis and Bone Disease, American journal of human genetics , 79(6), 2006, pp. 1017-1029

Mutant POLG2 Disrupts DNA Polymerase . Subunits and Causes Progressive External Ophthalmoplegia

Authors: Longley, Matthew J. Clark, Susanna Man, Cynthia Yu Wai Hudson, Gavin Durham, Steve E Taylor, Robert W. Nightingale, Simon Turnbull, Douglass M Copeland, William C. Chinnery, Patrick F.

Journal: American journal of human genetics

Citation: J. Longley, Matthew et al., Mutant POLG2 Disrupts DNA Polymerase . Subunits and Causes Progressive External Ophthalmoplegia, American journal of human genetics , 78(6), 2006, pp. 1026-1034

Mutations of Presenilin Genes in Dilated Cardiomyopathy and Heart Failure

Authors: Li, Duanxiang Parks, Sharie B. Kushner, Jessica D. Nauman, Deirdre Burgess, Donna Ludwigsen, Susan Partain, Julie Nixon, Randal R. Allen, Charles N. Irwin, Robert P. Jakobs, Petra M. Litt, Michael Hershberger, Ray E.

Journal: American journal of human genetics

Citation: Li, Duanxiang et al., Mutations of Presenilin Genes in Dilated Cardiomyopathy and Heart Failure, American journal of human genetics , 79(6), 2006, pp. 1030-1039

Tricellulin Is a Tight-Junction Protein Necessary for Hearing

Authors: Riazuddin, Saima Ahmed, Zubair M. Fanning, Alan S. Lagziel, Ayala Kitajiri, Shin-ichiro Ramzan, Khushnooda Khan, Shaheen N. Chattaraj, Parna Friedman, Penelope L. Anderson, James M. Belyantseva, Inna A. Forge, Andrew Riazuddin, Sheikh Friedman, Thomas B.

Journal: American journal of human genetics

Citation: Riazuddin, Saima et al., Tricellulin Is a Tight-Junction Protein Necessary for Hearing, American journal of human genetics , 79(6), 2006, pp. 1040-1051

HLA and Genomewide Allele Sharing in Dizygotic Twins

Authors: Montgomery, Grant W. Zhu, Gu Hottenga, Jouke Jan Duffy, David L. Heath, Andrew C Boomsma, Dorret I. Martin, Nicholas G. Visscher, Peter M.

Journal: American journal of human genetics

Citation: W. Montgomery, Grant et al., HLA and Genomewide Allele Sharing in Dizygotic Twins, American journal of human genetics , 79(6), 2006, pp. 1052-1058

Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

Authors: Friedman, James S. Chang, Bo Kannabiran, Chitra Chakarova, Christina Singh, Hardeep P. Jalali, Subhadra Hawes, Norman L. Branham, Kari Othman, Mohammad Filippova, Elena Thompson, Debra A. Webster, Andrew R. Andréasson, Sten Jacobson, Samuel G. Bhattacharya, Shomi S. Heckenlively, John R. Swaroop, Anand

Journal: American journal of human genetics

Citation: S. Friedman, James et al., Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration, American journal of human genetics , 79(6), 2006, pp. 1059-1070

Results: << | 101-125 | 126-126