string(238) "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 50 limit 25" ACNP - Italian Periodicals Catalogue

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Articles table of contents

Results : 51-75/126

A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol

Authors: Kotowski, Ingrid K. Pertsemlidis, Alexander Luke, Amy Cooper, Richard S. Vega, Gloria L. Cohen, Jonathan C. Hobbs, Helen H.

Journal: American journal of human genetics

Citation: K. Kotowski, Ingrid et al., A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol, American journal of human genetics , 78(3), 2006, pp. 410-422

Deciphering the Ancient and Complex Evolutionary History of Human Arylamine N-Acetyltransferase Genes

Authors: Patin, Etienne Barreiro, Luis B. Sabeti, Pardis C. Austerlitz, Frédéric Luca, Francesca Sajantila, Antti Behar, Doron M. Semino, Ornella Sakuntabhai, Anavaj Guiso, Nicole Gicquel, Brigitte McElreavey, Ken Harding, Rosalind M. Heyer, Evelyne Quintana-Murci, Lluís

Journal: American journal of human genetics

Citation: Patin, Etienne et al., Deciphering the Ancient and Complex Evolutionary History of Human Arylamine N-Acetyltransferase Genes, American journal of human genetics , 78(3), 2006, pp. 423-436

A Comparison of Phasing Algorithms for Trios and Unrelated Individuals

Authors: Marchini, Jonathan Cutler, David Patterson, Nick Stephens, Matthew Eskin, Eleazar Halperin, Eran Lin, Shin Qin, Zhaohui S. Munro, Heather M. Abecasis, Gonçalo R. Donnelly, Peter

Journal: American journal of human genetics

Citation: Marchini, Jonathan et al., A Comparison of Phasing Algorithms for Trios and Unrelated Individuals, American journal of human genetics , 78(3), 2006, pp. 437-450

A Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon

Authors: Fllermann, Klaus Stange, Daniel E. Schaeffeler, Elke Schmalzl, Hartmut Wehkamp, Jan Bevins, Charles L Reinisch, Walter Teml, Alexander Schwab, Matthias Lichter, Peter Radlwimmer, Bernhard Stange, Eduard F.

Journal: American journal of human genetics

Citation: Fllermann, Klaus et al., A Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the Colon, American journal of human genetics , 79(3), 2006, pp. 439-448

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

Authors: Van Camp, Guy Snoeckx, Rikkert L Hilgert, Nele Van den Ende, Jenneke Fukuoka, Hisakumi Wagatsuma, Michio Suzuki, Hiroaki Smets, R.M. Erica Vanhoenacker, Filip Declau, Frank Van De Heyning, Paul Usami, Shin-ichi

Journal: American journal of human genetics

Citation: Van Camp, Guy et al., A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene, American journal of human genetics , 79(3), 2006, pp. 449-457

Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase ./..Subunits Precursor Gene

Authors: Kudo, Mariko Brem, Michael S. Canfield, William M.

Journal: American journal of human genetics

Citation: Kudo, Mariko et al., Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase ./..Subunits Precursor Gene, American journal of human genetics , 78(3), 2006, pp. 451-463

The Value of Molecular Haplotypes in a Family-Based Linkage Study

Authors: Gillanders, E.M. Pearson, J.V. Sorant, A.J.M. Trent, J.M. O.Connell, J.R. Bailey-Wilson, J.E.

Journal: American journal of human genetics

Citation: Gillanders, E.m et al., The Value of Molecular Haplotypes in a Family-Based Linkage Study, American journal of human genetics , 79(3), 2006, pp. 458-468

Bladder Cancer Predisposition: A Multigenic Approach to DNA-Repair and Cell-Cycle.Control Genes

Authors: Wu, Xifeng Gu, Jian Grossman, H. Barton Amos, Christopher I. Etzel, Carol Huang, Maosheng Zhang, Qing Millikan, Randal E. Lerner, Seth Dinney, Colin P. Spitz, Margaret R.

Journal: American journal of human genetics

Citation: Wu, Xifeng et al., Bladder Cancer Predisposition: A Multigenic Approach to DNA-Repair and Cell-Cycle.Control Genes, American journal of human genetics , 78(3), 2006, pp. 464-479

Mitochondrial DNA.Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers

Authors: Bua, Entel Johnson, Jody Herbst, Allen Delong, Bridget McKenzie, Debbie Salamat, Shahriar M. Aiken, Judd

Journal: American journal of human genetics

Citation: Bua, Entel et al., Mitochondrial DNA.Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers, American journal of human genetics , 79(3), 2006, pp. 469-480

A Fast Method for Computing High-Significance Disease Association in Large Population-Based Studies

Authors: Kimmel, Gad Shamir, Ron

Journal: American journal of human genetics

Citation: Kimmel, Gad et Shamir, Ron, A Fast Method for Computing High-Significance Disease Association in Large Population-Based Studies, American journal of human genetics , 79(3), 2006, pp. 481-492

X Chromosome.Inactivation Patterns of 1,005 Phenotypically Unaffected Females

Authors: Amos-Landgraf, James M Cottle, Amy Plenge, Robert M. Friez, Mike Schwartz, Charles E Longshore, John Willard, Huntington F

Journal: American journal of human genetics

Citation: M. Amos-landgraf, James et al., X Chromosome.Inactivation Patterns of 1,005 Phenotypically Unaffected Females, American journal of human genetics , 79(3), 2006, pp. 493-499

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

Authors: Friedman, J.M. Baross, Ágnes Delaney, Allen D. Ally, Adrian Arbour, Laura Asano, Jennifer Bailey, Dione K. Barber, Sarah Birch, Patricia Brown-John, Mabel Cao, Manqiu Chan, Susanna Charest, David L. Farnoud, Noushin Fernandes, Nicole Flibotte, Stephane Go, Anne Gibson, William T. Holt, Robert A. Jones, Steven J.M Marra, Marco A.

Journal: American journal of human genetics

Citation: Friedman, J.m et al., Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation, American journal of human genetics , 79(3), 2006, pp. 500-513

Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote

Authors: Zhao, Zhenze Tuakli-Wosornu, Yetsa Lagace, Thomas A. Kinch, Lisa Grishin, Nicholas V. Horton, Jay D. Cohen, Jonathan C. Hobbs, Helen H.

Journal: American journal of human genetics

Citation: Zhao, Zhenze et al., Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote, American journal of human genetics , 79(3), 2006, pp. 514-523

Meiotic Recombination and Spatial Proximity in the Etiology of the Recurrent t(11;22)

Authors: Ashley, Terry Gaeth, Ann P. Inagaki, Hidehito Seftel, Allen Cohen, Maimon M Anderson, Lorinda K. Kurahashi, Hiroki Emanuel, Beverly S.

Journal: American journal of human genetics

Citation: Ashley, Terry et al., Meiotic Recombination and Spatial Proximity in the Etiology of the Recurrent t(11;22), American journal of human genetics , 79(3), 2006, pp. 524-538

Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

Authors: Del Campo, Miguel Antonell, Anna Magano, Luis F. Muñoz, Francisco J Flores, Raquel Bayés, Mònica Pérez Jurado, Luis A.

Journal: American journal of human genetics

Citation: Del Campo, Miguel et al., Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension, American journal of human genetics , 78(4), 2006, pp. 533-542

An Expectation-Maximization Algorithm for the Analysis of Allelic Expression Imbalance

Authors: Teare, M.D. Heighway, J. Santibáñez Koref, M.F.

Journal: American journal of human genetics

Citation: Teare, M.d et al., An Expectation-Maximization Algorithm for the Analysis of Allelic Expression Imbalance, American journal of human genetics , 79(3), 2006, pp. 539-543

Genome Scan for Loci Predisposing to Anxiety Disorders Using a Novel Multivariate Approach: Strong Evidence for a Chromosome 4 Risk Locus

Authors: Kaabi, Belhassen Gelernter, Joel Woods, Scott W. Goddard, Andrew Page, Grier P. Elston, Robert C.

Journal: American journal of human genetics

Citation: Kaabi, Belhassen et al., Genome Scan for Loci Predisposing to Anxiety Disorders Using a Novel Multivariate Approach: Strong Evidence for a Chromosome 4 Risk Locus, American journal of human genetics , 78(4), 2006, pp. 543-553

New Complexities in the Genetics of Stuttering: Significant Sex-Specific Linkage Signals

Authors: Suresh, Rathi Ambrose, Nicoline Roe, Cheryl Pluzhnikov, Anna Wittke-Thompson, Jacqueline K C.-Y. Ng, Maggie Wu, Xiaolin Cook, Edwin H. Lundstrom, Cecilia Garsten, Marie Ezrati, Ruth Yairi, Ehud Cox, Nancy J.

Journal: American journal of human genetics

Citation: Suresh, Rathi et al., New Complexities in the Genetics of Stuttering: Significant Sex-Specific Linkage Signals, American journal of human genetics , 78(4), 2006, pp. 554-563

Stuttering is a speech disorder long recognized to have a genetic component. Recent linkage studies mapped a susceptibility locus for stuttering to chromosome 12 in 46 highly inbred families ascertained in Pakistan. We report here on linkage studies in 100 families of European descent ascertained in the United States, Sweden, and Israel. These families included 252 individuals exhibiting persistent stuttering, 45 individuals classified as recovered from stuttering, and 19 individuals too young t

Authors: Carelli, Valerio Achilli, Alessandro Valentino, Maria Lucia Rengo, Chiara Semino, Ornella Pala, Maria Olivieri, Anna Mattiazzi, Marina Pallotti, Francesco Carrara, Franco Zeviani, Massimo Leuzzi, Vincenzo Carducci, Carla Valle, Giorgio Simionati, Barbara Mendieta, Luana Salomao, Solange Belfort Jr, Rubens Sadun, Alfredo A Torroni, Antonio

Journal: American journal of human genetics

Citation: Carelli, Valerio et al., Stuttering is a speech disorder long recognized to have a genetic component. Recent linkage studies mapped a susceptibility locus for stuttering to chromosome 12 in 46 highly inbred families ascertained in Pakistan. We report here on linkage studies in 100 families of European descent ascertained in the United States, Sweden, and Israel. These families included 252 individuals exhibiting persistent stuttering, 45 individuals classified as recovered from stuttering, and 19 individuals too young t, American journal of human genetics , 78(4), 2006, pp. 564-574

A Murine Model for Human Sepiapterin-Reductase Deficiency

Authors: Yang, Seungkyoung Jae Lee, Young Kim, Jin-Man Park, Sean Peris, Joanna Laipis, Philip Park, Young Shik Chung, Jae-Hoon Oh, Suk Paul

Journal: American journal of human genetics

Citation: Yang, Seungkyoung et al., A Murine Model for Human Sepiapterin-Reductase Deficiency, American journal of human genetics , 78(4), 2006, pp. 575-587

Biases and Reconciliation in Estimates of Linkage Disequilibrium in the Human Genome

Authors: Pe.er, Itsik Chretien, Yves R De Bakker, Paul I.W. Barrett, Jeffrey C. Daly, Mark J. Altshuler, David M

Journal: American journal of human genetics

Citation: Pe.er, Itsik et al., Biases and Reconciliation in Estimates of Linkage Disequilibrium in the Human Genome, American journal of human genetics , 78(4), 2006, pp. 588-603

Reduction of Sample Heterogeneity through Use of Population Substructure: An Example from a Population of African American Families with Sarcoidosis

Authors: Thompson, Cheryl L. Rybicki, Benjamin A. Iannuzzi, Michael C. Elston, Robert C. Iyengar, Sudha K. Gray-McGuire, Courtney

Journal: American journal of human genetics

Citation: L. Thompson, Cheryl et al., Reduction of Sample Heterogeneity through Use of Population Substructure: An Example from a Population of African American Families with Sarcoidosis, American journal of human genetics , 79(4), 2006, pp. 600-613

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Authors: Bliek, Jet Terhal, Paulien Van den Bogaard, Marie-José Maas, Saskia Hamel, Ben Salieb-Beugelaar, Georgette Simon, Marleen Letteboer, Tom Van der Smagt, Jasper Kroes, Hester Mannens, Marcel

Journal: American journal of human genetics

Citation: Bliek, Jet et al., Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype, American journal of human genetics , 78(4), 2006, pp. 604-614

Genetic Mapping at 3-Kilobase Resolution Reveals Inositol 1,4,5-Triphosphate Receptor 3 as a Risk Factor for Type 1 Diabetes in Sweden

Authors: Roach, Jared C. Deutsch, Kerry Li, Sarah Siegel, Andrew F. Bekris, Lynn M. Einhaus, Derek C. Sheridan, Colleen M. Glusman, Gustavo Hood, Leroy Lernmark, Åke Janer, Marta

Journal: American journal of human genetics

Citation: C. Roach, Jared et al., Genetic Mapping at 3-Kilobase Resolution Reveals Inositol 1,4,5-Triphosphate Receptor 3 as a Risk Factor for Type 1 Diabetes in Sweden, American journal of human genetics , 79(4), 2006, pp. 614-627

A Fine-Scale Linkage-Disequilibrium Measure Based on Length of Haplotype Sharing

Authors: Wang, Yan Zhao, Lue Ping Dudoit, Sandrine

Journal: American journal of human genetics

Citation: Wang, Yan et al., A Fine-Scale Linkage-Disequilibrium Measure Based on Length of Haplotype Sharing, American journal of human genetics , 78(4), 2006, pp. 615-628

Results: 1-25 | 26-50 | 51-75 | 76-100 | >>