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 25 limit 25" ACNP - Italian Periodicals Catalogue

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

Articles table of contents

Results : 26-50/90

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Authors: Valdmanis, Paul N. Meijer, Inge A. Reynolds, Annie Lei, Adrienne MacLeod, Patrick Schlesinger, David Zatz, Mayana Reid, Evan Dion, Patrick A. Drapeau, Pierre Rouleau, Guy A.

Journal: American journal of human genetics

Citation: N. Valdmanis, Paul et al., Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia, American journal of human genetics , 80(1), 2007, pp. 152-161

A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies

Authors: Wakefield, Jon

Journal: American journal of human genetics

Citation: Wakefield, Jon, A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies, American journal of human genetics , 81(2), 2007, pp. 208-227

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Authors: Winnepenninckx, Brigitta Debacker, Kim Ramsay, Jacqueline Smeets, Dominique Smits, Arie FitzPatrick, David R. Kooy, Frank R.

Journal: American journal of human genetics

Citation: Winnepenninckx, Brigitta et al., CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1, American journal of human genetics , 80(2), 2007, pp. 221-231

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA.Haplogroup Background

Authors: Hudson, Gavin Carelli, Valerio Spruijt, Liesbeth Gerards, Mike Mowbray, Catherine Achilli, Alessandro Pyle, Angela Elson, Joanna Howell, Neil La Morgia, Chiara Valentino, Maria Lucia Huoponen, Kirsi Savontaus, Marja-Liisa Nikoskelainen, Eeva Sadun, Alfredo A. Salomao, Solange R. Belfort Jr., Rubens Griffiths, Philip Yu-Wai-Man, Patrick De Coo, Rene F.M. Chinnery, Patrick F.

Journal: American journal of human genetics

Citation: Hudson, Gavin et al., Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA.Haplogroup Background, American journal of human genetics , 81(2), 2007, pp. 228-233

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia.Absent Radius Syndrome

Authors: Klopocki, Eva Schulze, Harald Strauß, Gabriele Ott, Claus-Eric Hall, Judith Trotier, Fabienne Fleischhauer, Silke Greenhalgh, Lynn Newbury-Ecob, Ruth A. Neumann, Luitgard M. Habenicht, Rolf König, Rainer Seemanova, Eva Megarbane, André Ropers, Hans-Hilger Ullmann, Reinhard Horn, Denise Mundlos, Stefan

Journal: American journal of human genetics

Citation: Klopocki, Eva et al., Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia.Absent Radius Syndrome, American journal of human genetics , 80(2), 2007, pp. 232-240

Combining Evidence of Natural Selection with Association Analysis Increases Power to Detect Malaria-Resistance Variants

Authors: Ayodo, George Price, Alkes L. Keinan, Alon Ajwang, Arthur Otieno, Michael F Orago, Alloys S.S Patterson, Nick Reich, David

Journal: American journal of human genetics

Citation: Ayodo, George et al., Combining Evidence of Natural Selection with Association Analysis Increases Power to Detect Malaria-Resistance Variants, American journal of human genetics , 81(2), 2007, pp. 234-242

A Three.Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation

Authors: Duffy, David L. Montgomery, Grant W. Chen, Wei Zhao, Zhen Zhen Le, Lien James, Michael R. Hayward, Nicholas K. Martin, Nicholas G Sturm, Richard A.

Journal: American journal of human genetics

Citation: L. Duffy, David et al., A Three.Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation, American journal of human genetics , 80(2), 2007, pp. 241-252

Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

Authors: Maertens, Ophélia De Schepper, Sofie Vandesompele, Jo Brems, Hilde Heyns, Ine Janssens, Sandra Speleman, Frank Legius, Eric Messiaen, Ludwine

Journal: American journal of human genetics

Citation: Maertens, Ophélia et al., Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1, American journal of human genetics , 81(2), 2007, pp. 243-251

Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance

Authors: Prandini, Paola Deutsch, Samuel Lyle, Robert Gagnebin, Maryline Delucinge Vivier, Celine Delorenzi, Mauro Gehrig, Corinne Descombes, Patrick Sherman, Stephanie Dagna Bricarelli, Franca Baldo, Chiara Novelli, Antonio Dallapiccola, Bruno Antonarakis, Stylianos E.

Journal: American journal of human genetics

Citation: Prandini, Paola et al., Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance, American journal of human genetics , 81(2), 2007, pp. 252-263

Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q

Authors: Christy Chang, Yen-Pei Liu, Xin Ok Kim, James Dae Ikeda, Morna A. Layton, Marnie R Weder, Alan B Cooper, Richard S. Kardia, Sharon L.R. Rao, D.C Hunt, Steve C. Luke, Amy Boerwinkle, Eric Chakravarti, Aravinda

Journal: American journal of human genetics

Citation: Christy Chang, Yen-pei et al., Multiple Genes for Essential-Hypertension Susceptibility on Chromosome 1q, American journal of human genetics , 80(2), 2007, pp. 253-264

Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy

Authors: Clapp, Jannine Mitchell, Laura M. Bolland, Daniel J. Fantes, Judy Corcoran, Anne E. Scotting, Paul J. Armour, John A.L. Hewitt, Jane E.

Journal: American journal of human genetics

Citation: Clapp, Jannine et al., Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy, American journal of human genetics , 81(2), 2007, pp. 264-279

Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families

Authors: The Tourette Syndrome Association International Consortium for Genetics

Journal: American journal of human genetics

Citation: The Tourette Syndrome Association International Consortium For Genetics, Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families, American journal of human genetics , 80(2), 2007, pp. 265-272

A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes

Authors: Cargill, Michele Schrodi, Steven J. Chang, Monica Garcia, Veronica E. Brandon, Rhonda Callis, Kristina P. Matsunami, Nori Ardlie, Kristin G. Civello, Daniel Catanese, Joseph J. Leong, Diane U. Panko, Jackie M. McAllister, Linda B. Hansen, Christopher B. Papenfuss, Jason Prescott, Stephen M. White, Thomas J. Leppert, Mark F. Krueger, Gerald G. Begovich, Ann B.

Journal: American journal of human genetics

Citation: Cargill, Michele et al., A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes, American journal of human genetics , 80(2), 2007, pp. 273-290

Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy

Authors: Kirk, Edwin P. Sunde, Margaret Costa, Mauro W. Rankin, Scott A. Wolstein, Orit Castro, M. Leticia Butler, Tanya L. Hyun, Changbaig Guo, Guanglan Otway, Robyn Mackay, Joel P Waddell, Leigh B. Cole, Andrew D. Hayward, Christopher Keogh, Anne Macdonald, Peter Griffiths, Lyn Fatkin, Diane Sholler, Gary Fred Zorn, Aaron M Harvey, Richard P.

Journal: American journal of human genetics

Citation: P. Kirk, Edwin et al., Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy, American journal of human genetics , 81(2), 2007, pp. 280-291

Long-Term Rescue of a Lethal Inherited Disease by Adeno-Associated Virus.Mediated Gene Transfer in a Mouse Model of Molybdenum-Cofactor Deficiency

Authors: Kügler, S. Hahnewald, R. Garrido, M. Reiss, J.

Journal: American journal of human genetics

Citation: S. Kügler, et al., Long-Term Rescue of a Lethal Inherited Disease by Adeno-Associated Virus.Mediated Gene Transfer in a Mouse Model of Molybdenum-Cofactor Deficiency, American journal of human genetics , 80(2), 2007, pp. 291-297

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Authors: Boland, Elena Clayton-Smith, Jill Woo, Victoria G. McKee, Shane Manson, Forbes D.C. Medne, Livija Zackai, Elaine Swanson, Eric A. Fitzpatrick, David Millen,Kathleen J. Sherr, Elliott H. Dobyns, William B Black, Graeme C.M.

Journal: American journal of human genetics

Citation: Boland, Elena et al., Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum, American journal of human genetics , 81(2), 2007, pp. 292-303

Inheritance of Mitochondrial DNA Recombinants in Double-Heteroplasmic Families: Potential Implications for Phylogenetic Analysis

Authors: Zsurka, Gábor Hampel, Kevin G. Kudina, Tatiana Kornblum, Cornelia Kraytsberg, Yevgenia Elger, Christian E. Khrapko, Konstantin Kunz, Wolfram S

Journal: American journal of human genetics

Citation: Zsurka, Gábor et al., Inheritance of Mitochondrial DNA Recombinants in Double-Heteroplasmic Families: Potential Implications for Phylogenetic Analysis, American journal of human genetics , 80(2), 2007, pp. 298-305

Bayesian Mapping of Quantitative Trait Loci for Multiple Complex Traits with the Use of Variance Components

Authors: Liu, Jianfeng Liu, Yongjun Liu, Xiaogang Deng, Hong-Wen

Journal: American journal of human genetics

Citation: Liu, Jianfeng et al., Bayesian Mapping of Quantitative Trait Loci for Multiple Complex Traits with the Use of Variance Components, American journal of human genetics , 81(2), 2007, pp. 304-320

GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies

Authors: Asai-Coakwell, Mika French, Curtis R. Berry, Karyn M. Ye, Ming Koss, Ron Somerville, Martin Mueller, Rosemary Van Heyningen, Veronica Waskiewicz, Andrew J. Lehmann, Ordan J.

Journal: American journal of human genetics

Citation: Asai-coakwell, Mika et al., GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies, American journal of human genetics , 80(2), 2007, pp. 306-315

Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

Authors: Martinez-Mir, Amalia Zlotogorski, Abraham Gordon, Derek Petukhova, Lynn Mo, Jianhong Gilliam, T. Conrad Londono, Douglas Haynes, Chad Ott, Jurg Hordinsky, Maria Nanova, Krassimira Norris, David Prince, Vera Duvic, Madeleine Christiano, Angela M.

Journal: American journal of human genetics

Citation: Martinez-mir, Amalia et al., Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata, American journal of human genetics , 80(2), 2007, pp. 316-328

Case-Control Association Testing with Related Individuals: A More Powerful Quasi-Likelihood Score Test

Authors: Thornton, Timothy McPeek, Mary Sara

Journal: American journal of human genetics

Citation: Thornton, Timothy et Mcpeek, Mary Sara, Case-Control Association Testing with Related Individuals: A More Powerful Quasi-Likelihood Score Test, American journal of human genetics , 81(2), 2007, pp. 321-337

ALAD Porphyria Is a Conformational Disease

Authors: Jaffe, Eileen K. Stith, Linda

Journal: American journal of human genetics

Citation: K. Jaffe, Eileen et Stith, Linda, ALAD Porphyria Is a Conformational Disease, American journal of human genetics , 80(2), 2007, pp. 329-337

Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium

Authors: Salonen, Jukka T. Uimari, Pekka Aalto, Juha-Matti Pirskanen, Mia Kaikkonen, Jari Todorova, Boryana Hyppönen, Jelena Korhonen, Veli-Pekka Asikainen, Janne Devine, Christopher Tuomainen, Tomi-Pekka Luedemann, Jan Nauck, Matthias Kerner, Wolfgang Stephens, Richard H New, John P. Ollier, William E. Gibson, J. Martin Payton, Antony Horan, Michael A. Darvasi, Ariel

Journal: American journal of human genetics

Citation: T. Salonen, Jukka et al., Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium, American journal of human genetics , 81(2), 2007, pp. 338-345

Sequence-Based Prioritization of Nonsynonymous Single-Nucleotide Polymorphisms for the Study of Disease Mutations

Authors: Jiang, Rui Yang, Hua Zhou, Linqi Jay Kuo, C.-C. Sun, Fengzhu Chen, Ting

Journal: American journal of human genetics

Citation: Jiang, Rui et al., Sequence-Based Prioritization of Nonsynonymous Single-Nucleotide Polymorphisms for the Study of Disease Mutations, American journal of human genetics , 81(2), 2007, pp. 346-360

Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism

Authors: Makino, Satoshi Kaji, Ryuji Ando, Satoshi Tomizawa, Maiko Yasuno, Katsuhito Goto, Satoshi Matsumoto, Shinnichi Tabuena, Ma. Daisy Maranon, Elma Dantes, Marita Lee, Lillian V. Ogasawara, Kazumasa Tooyama, Ikuo Akatsu, Hiroyasu Nishimura, Masataka Tamiya, Gen

Journal: American journal of human genetics

Citation: Makino, Satoshi et al., Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism, American journal of human genetics , 80(3), 2007, pp. 393-406

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