string(237) "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 0 limit 25" ACNP - Italian Periodicals Catalogue
Results: 1-25 | 26-50 | 51-75 | 76-90    

Articles table of contents

Results : 1-25/90
Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H
Authors: Delague, Valérie Jacquier, Arnaud Hamadouche, Tarik Poitelon, Yannick Baudot, Cécile Boccaccio, Irène Chouery, Eliane Chaouch, Malika Kassouri, Nora Jabbour, Rosette Grid, Djamel Mégarbané, André Haase, Georg Lévy, Nicolas
Journal: American journal of human genetics
Citation: Delague, Valérie et al., Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H, American journal of human genetics , 81(1), 2007, pp. 1-16
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome
Authors: Stoetzel, Corinne Muller, Jean Laurier, Virginie Davis, Erica E. Zaghloul, Norann A Vicaire, Serge Jacquelin, Cécile Plewniak, Frédéric Leitch, Carmen C. Sarda, Pierre Hamel, Christian De Ravel, Thomy J.L. Lewis, Richard Alan Friederich, Evelyne Thibault, Christelle Danse, Jean-Marc Verloes, Alain Bonneau, Dominique Katsanis, Nicholas Poch, Olivier Dollfus, Hélène
Journal: American journal of human genetics
Citation: Stoetzel, Corinne et al., Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome, American journal of human genetics , 80(1), 2007, pp. 1-11
Functional Variants in the Promoter Region of Chitinase 3.Like 1 (CHI3L1) and Susceptibility to Schizophrenia
Authors: Zhao, Xinzhi Tang, Ruqi Gao, Bo Shi, Yongyong Zhou, Jian Guo, Shengzhen Zhang, Jing Wang, Yabing Tang, Wei Meng, Junwei Li, Sheng Wang, Hongsheng Ma, Gang Lin, Chuwen Xiao, Yue Feng, Guoyin Lin, Zhiguang Zhu, Shaomin Xing, Yangling Sang, Hong He, Lin
Journal: American journal of human genetics
Citation: Zhao, Xinzhi et al., Functional Variants in the Promoter Region of Chitinase 3.Like 1 (CHI3L1) and Susceptibility to Schizophrenia, American journal of human genetics , 80(1), 2007, pp. 12-18
A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population
Authors: Liu, Fan Arias-Vásquez, Alejandro Sleegers, Kristel Aulchenko, Yurii S Kayser, Manfred Sanchez-Juan, Pascual Feng, Bing-Jian Bertoli-Avella, Aida M. Van Swieten, John Axenovich, Tatiana I. Heutink, Peter Van Broeckhoven, Christine Oostra, Ben A. Van Duijn, Cornelia M.
Journal: American journal of human genetics
Citation: Liu, Fan et al., A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population, American journal of human genetics , 81(1), 2007, pp. 17-31
Genome Scanning by Composite Likelihood
Authors: Morton, Newton Maniatis, Nikolas Zhang, Weihua Ennis, Sarah Collins, Andrew
Journal: American journal of human genetics
Citation: Morton, Newton et al., Genome Scanning by Composite Likelihood, American journal of human genetics , 80(1), 2007, pp. 19-28
A Mitochondrial Stratigraphy for Island Southeast Asia
Authors: Hill, Catherine Soares, Pedro Mormina, Maru Macaulay, Vincent Clarke, Dougie Blumbach, Petya B. Vizuete-Forster, Matthieu Forster, Peter Bulbeck, David Oppenheimer, Stephen Richards, Martin
Journal: American journal of human genetics
Citation: Hill, Catherine et al., A Mitochondrial Stratigraphy for Island Southeast Asia, American journal of human genetics , 80(1), 2007, pp. 29-43
Conversion and Compensatory Evolution of the .-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State
Authors: Plotnikova, Olga V. Kondrashov, Fyodor A. Vlasov, Peter K. Grigorenko, Anastasia P. Ginter, Evgeny K. Rogaev, Evgeny I.
Journal: American journal of human genetics
Citation: V. Plotnikova, Olga et al., Conversion and Compensatory Evolution of the .-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human CRYGD Gene to an Ancestral State, American journal of human genetics , 81(1), 2007, pp. 32-43
Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu
Authors: Valente, Lucia Tiranti, Valeria Marsano, René Massimiliano Malfatti, Edoardo Fernandez-Vizarra, Erika Donnini, Claudia Mereghetti, Paolo De Gioia, Luca Burlina, Alberto Castellan, Claudio Comi, Giacomo P. Savasta, Salvatore Ferrero, Iliana Zeviani, Massimo
Journal: American journal of human genetics
Citation: Valente, Lucia et al., Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu, American journal of human genetics , 80(1), 2007, pp. 44-58
Evidence of Amino Acid Diversity.Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ
Authors: Hamm, David Mautz, Brian S. Wolfner, Mariana F. Aquadro, Charles F. Swanson, Willie J.
Journal: American journal of human genetics
Citation: Hamm, David et al., Evidence of Amino Acid Diversity.Enhancing Selection within Humans and among Primates at the Candidate Sperm-Receptor Gene PKDREJ, American journal of human genetics , 81(1), 2007, pp. 44-52
Identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families
Authors: Shi, Min Umbach, David M. Weinberg, Clarice R.
Journal: American journal of human genetics
Citation: Shi, Min et al., Identification of Risk-Related Haplotypes with the Use of Multiple SNPs from Nuclear Families, American journal of human genetics , 81(1), 2007, pp. 53-66
X-APL: An Improved Family-Based Test of Association in the Presence of Linkage for the X Chromosome
Authors: Chung, Ren-Hua Morris, Richard W Zhang, Li Li, Yi-Ju Martin, Eden R.
Journal: American journal of human genetics
Citation: Chung, Ren-hua et al., X-APL: An Improved Family-Based Test of Association in the Presence of Linkage for the X Chromosome, American journal of human genetics , 80(1), 2007, pp. 59-68
The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
Authors: Maystadt, Isabelle Rezsöhazy, René Barkats, Martine Duque, Sandra Vannuffel, Pascal Remacle, Sophie Lambert, Barbara Najimi, Mustapha Sokal, Etienne Munnich, Arnold Viollet, Louis Verellen-Dumoulin, Christine
Journal: American journal of human genetics
Citation: Maystadt, Isabelle et al., The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset, American journal of human genetics , 81(1), 2007, pp. 67-76
Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations
Authors: Liquori, Christina L. Berg, Michel J. Squitieri, Ferdinando Leedom, Tracey P. Ptacek, Louis Johnson, Eric W. Marchuk, Douglas A.
Journal: American journal of human genetics
Citation: L. Liquori, Christina et al., Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations, American journal of human genetics , 80(1), 2007, pp. 69-75
Orofacial Cleft Risk Is Increased with Maternal Smoking and Specific Detoxification-Gene Variants
Authors: Shi, Min Christensen, Kaare Weinberg, Clarice R. Romitti, Paul Bathum, Lise Lozada, Anthony Morris, Richard W. Lovett, Michael Murray, Jeffrey C.
Journal: American journal of human genetics
Citation: Shi, Min et al., Orofacial Cleft Risk Is Increased with Maternal Smoking and Specific Detoxification-Gene Variants, American journal of human genetics , 80(1), 2007, pp. 76-90
The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
Authors: O.Driscoll, Mark Dobyns, William B. Van Hagen, Johanna M. Jeggo, Penny A.
Journal: American journal of human genetics
Citation: O.driscoll, Mark et al., The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset, American journal of human genetics , 81(1), 2007, pp. 77-86
A New Genetic Disorder in Mitochondrial Fatty Acid .-Oxidation: ACAD9 Deficiency
Authors: He, M Rutledge, S.L. Palmer, C.A. Murdoch, G. Majumder, N. Nicholls, R.D. Pei, Z. Watkins, P.A. Vockley, J.
Journal: American journal of human genetics
Citation: M. He, et al., A New Genetic Disorder in Mitochondrial Fatty Acid .-Oxidation: ACAD9 Deficiency, American journal of human genetics , 81(1), 2007, pp. 87-103
A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome
Authors: Wong, Kendy K. DeLeeuw, Ronald J. Dosanjh, Nirpjit S. Kimm, Lindsey R. Cheng, Ze Horsman, Douglas E. MacAulay, Calum Ng, Raymond T. Brown, Carolyn J. Eichler, Evan E. Lam, Wan L.
Journal: American journal of human genetics
Citation: K. Wong, Kendy et al., A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome, American journal of human genetics , 80(1), 2007, pp. 91-104
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome.Related Disorders
Authors: Brancati, Francesco Barrano, Giuseppe Silhavy, Jennifer L. Marsh, Sarah E. Travaglini, Lorena Bielas, Stephanie L. Amorini, Maria Zablocka, Dominika Kayserili, Hulya Al-Gazali, Lihadh Bertini, Enrico Boltshauser, Eugen D'Hooghe, Marc Fazzi, Elisa Fenerci, Elif Y. Hennekam, Raoul C.M. Kiss, Andrea Lees, Melissa M. Marco, Elysa Phadke, Shubha R. Gleeson, Joseph G
Journal: American journal of human genetics
Citation: Brancati, Francesco et al., CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome.Related Disorders, American journal of human genetics , 81(1), 2007, pp. 104-113
Genomewide Linkage Scan for Split.Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1
Authors: Naveed, Mohammed Nath, Swapan K. Gaines, Mathew Al-Ali, Mahmoud T. Al-Khaja, Najib Hutchings, David Golla, Jeffrey Deutsch, Samuel Bottani, Armand Antonarakis, Stylianos E. Ratnamala, Uppala Radhakrishna, Uppala
Journal: American journal of human genetics
Citation: Naveed, Mohammed et al., Genomewide Linkage Scan for Split.Hand/Foot Malformation with Long-Bone Deficiency in a Large Arab Family Identifies Two Novel Susceptibility Loci on Chromosomes 1q42.2-q43 and 6q14.1, American journal of human genetics , 80(1), 2007, pp. 105-111
Multipoint Linkage-Disequilibrium Mapping with Haplotype-Block Structure
Authors: Zheng, Maoxia McPeek, Mary Sara
Journal: American journal of human genetics
Citation: Zheng, Maoxia et Mcpeek, Mary Sara, Multipoint Linkage-Disequilibrium Mapping with Haplotype-Block Structure, American journal of human genetics , 80(1), 2007, pp. 112-125
Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor Specimens by Use of Affymetrix Single-Nucleotide.Polymorphism Genotyping Microarrays
Authors: Yamamoto, Go Nannya, Yasuhito Kato, Motohiro Sanada, Masashi Levine, Ross L. Kawamata, Norihiko Norihiko, Akira Kurokawa, Mineo Chiba, Shigeru Gilliland, D. Gary Koeffler, H. Phillip Ogawa, Seishi
Journal: American journal of human genetics
Citation: Yamamoto, Go et al., Highly Sensitive Method for Genomewide Detection of Allelic Composition in Nonpaired, Primary Tumor Specimens by Use of Affymetrix Single-Nucleotide.Polymorphism Genotyping Microarrays, American journal of human genetics , 81(1), 2007, pp. 114-126
Identification of the Genetic Basis for Complex Disorders by Use of Pooling-Based Genomewide Single-Nucleotide.Polymorphism Association Studies
Authors: Pearson, John V. Huentelman, Matthew J. Halperin, Rebecca F. Tembe, Waibhav D Melquist, Melquist Homer, Nils Brun, Marcel Szelinger, Szabolcs Coon, Keith D. Zismann, Victoria L. Webster, Jennifer A. Beach, Thomas Sando, Sigrid B. Aasly, Jan O Heun, Reinhard Jessen, Frank Kölsch, Heike Tsolaki, Magdalini Daniilidou, Makrina Reiman, Eric M. Craig, David W.
Journal: American journal of human genetics
Citation: V. Pearson, John et al., Identification of the Genetic Basis for Complex Disorders by Use of Pooling-Based Genomewide Single-Nucleotide.Polymorphism Association Studies, American journal of human genetics , 80(1), 2007, pp. 126-139
RNA Interference.Mediated Suppression and Replacement of Human Rhodopsin In Vivo
Authors: O'Reilly, Mary Palfi, Arpad Chadderton, Naomi Millington-Ward, Sophia Ader, Marius Cronin, Thérèse Tuohy, Thérèse Auricchio, Alberto Hildinger, Markus Tivnan, Amanda McNally, Niamh Humphries, Marian M. Kiang, Anna-Sophia Humphries, Pete Kenna, Paul F. Farrar, G. Jane
Journal: American journal of human genetics
Citation: O'Reilly, Mary et al., RNA Interference.Mediated Suppression and Replacement of Human Rhodopsin In Vivo, American journal of human genetics , 81(1), 2007, pp. 127-135
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
Authors: Siintola, Eija Topcu, Meral Aula, Nina Lohi, Hannes Minassian, Berge A. Paterson, Andrew D. Liu, Xiao-Qing Wilson, Callum Lahtinen, Ulla Anttonen, Anna-Kaisa Lehesjoki, Anna-Elina
Journal: American journal of human genetics
Citation: Siintola, Eija et al., The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter, American journal of human genetics , 81(1), 2007, pp. 136-146
An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
Authors: Upadhyaya, M. Huson, S.M. Davies, M. Thomas, N. Chuzhanova, N. Giovannini, S. Evans, D.G. Howard, E. Kerr, B. Griffiths, S. Consoli, C. Side, L. Adams, D. Pierpont, M. Hachen, R. Barnicoat, A. Li, H. Wallace, P. Van Biervliet, J.P. Stevenson, D. Messiaen, L.
Journal: American journal of human genetics
Citation: M. Upadhyaya, et al., An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation, American journal of human genetics , 80(1), 2007, pp. 140-151
Results: 1-25 | 26-50 | 51-75 | 76-90