ITA
ENG

Results: 1-25 | 26-50 | 51-75 | 76-85

Articles table of contents

Results : 1-25/85

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5. Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency

Authors: Marie, S. Race, V. Nassogne, M.C. Vincent, M. F. Berghe, G. Van : den

Journal: American journal of human genetics

Citation: S. Marie, et al., Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5. Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency, American journal of human genetics , 71(1), 2002, pp. 14-21

BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance

Authors: Katsanis, Nicholas Eichers, Erica R. Ansley, Stephan J. Lewis, Richard Alan Kayserili, Hülya Hoskins, Bethan E. Scambler, Peter J. Beales, Philip L. Lupski, James R.

Journal: American journal of human genetics

Citation: Katsanis, Nicholas et al., BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance, American journal of human genetics , 71(1), 2002, pp. 22-29

Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome

Authors: Urbán, Zsolt Riazi, Sheila Seidl, Thomas L. Katahira, Jodi Smoot, Leslie B. Chitayat, David Boyd, Charles D. Hinek, Aleksander

Journal: American journal of human genetics

Citation: Urbán, Zsolt et al., Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome, American journal of human genetics , 71(1), 2002, pp. 30-44

A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21

Authors: Bartlett, Christopher W. Flax, Judy F. Logue, Mark W. Vieland, Veronica J. Bassett, Anne S. Tallal, Paula Brzustowicz, Linda M.

Journal: American journal of human genetics

Citation: W. Bartlett, Christopher et al., A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21, American journal of human genetics , 71(1), 2002, pp. 45-55

Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci

Authors: Etzel, Carol J. Guerra, Rudy

Journal: American journal of human genetics

Citation: J. Etzel, Carol et Guerra, Rudy, Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci, American journal of human genetics , 71(1), 2002, pp. 56-65

A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis Enteropathica

Authors: Wang, Kun Zhou, Bing Kuo, Yien-Ming Zemansky, Jason Gitschier, Jane

Journal: American journal of human genetics

Citation: Wang, Kun et al., A Novel Member of a Zinc Transporter Family Is Defective in Acrodermatitis Enteropathica, American journal of human genetics , 71(1), 2002, pp. 66-73

CARD15 Genetic Variation in a Quebec Population: Prevalence, Genotype-Phenotype Relationship, and Haplotype Structure

Authors: Vermeire, Severine Wild, Gary Kocher, Karry Cousineau, Josee Dufresne, Line Bitton, Alain Langelier, Diane Pare, Pierre Lapointe, Gilles Cohen, Albert Daly, Mark J. Rioux, John D.

Journal: American journal of human genetics

Citation: Vermeire, Severine et al., CARD15 Genetic Variation in a Quebec Population: Prevalence, Genotype-Phenotype Relationship, and Haplotype Structure, American journal of human genetics , 71(1), 2002, pp. 74-83

A Global Perspective on Genetic Variation at the ADH Genes Reveals Unusual Patterns of Linkage Disequilibrium and Diversity

Authors: Osier, Michael V. Pakstis, Andrew J. Soodyall, Himla Comas, David Goldman, David Odunsi, Adekunle Okonofua, Friday Parnas, Josef Shulz, Leslie O. Bertranpetit, Jaume Bonne-Tamir, Batsheva Lu, Ru-Band Kidd, Judith R. Kidd, Kenneth K.

Journal: American journal of human genetics

Citation: V. Osier, Michael et al., A Global Perspective on Genetic Variation at the ADH Genes Reveals Unusual Patterns of Linkage Disequilibrium and Diversity, American journal of human genetics , 71(1), 2002, pp. 84-99

Presence of Large Deletions in Kindreds with Autism

Authors: Yu, Chang-En Dawson, Geraldine Munson, Jeffrey D.Souza, Ian Osterling, Julie Estes, Annette Leutenegger, Anne-Louise Flodman, Pamela Smith, Moyra Raskind, Wendy H. Spence, Anne M. McMahon, William Wijsman, Ellen M. Schellenberg, Gerard D.

Journal: American journal of human genetics

Citation: Yu, Chang-en et al., Presence of Large Deletions in Kindreds with Autism, American journal of human genetics , 71(1), 2002, pp. 100-115

Analysis of the RNASEL Gene in Familial and Sporadic Prostate Cancer

Authors: Wang, Liang McDonnell, Shannon K. Elkins, David A. Slager, Susan L. Christensen, Eric Marks, Angela F. Cunningham, Julie M. Peterson, Brett J. Jacobsen, Steven J. Cerhan, James R. Blute, Michael L. Schaid, Daniel J. Thibodeau, Stephen N.

Journal: American journal of human genetics

Citation: Wang, Liang et al., Analysis of the RNASEL Gene in Familial and Sporadic Prostate Cancer, American journal of human genetics , 71(1), 2002, pp. 116-123

Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations

Authors: Pankratz, Nathan Nichols, WIlliam C. Uniacke, Sean K. Halter, Cheryl Rudolph, Alice Shults, Cliff Conneally, Michael P. Foroud, Tatiana the Parkinson Study Group

Journal: American journal of human genetics

Citation: Pankratz, Nathan et al., Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations, American journal of human genetics , 71(1), 2002, pp. 124-135

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

Authors: Jackson, Andrew P. Eastwood, Helen Bell, Sandra M. Adu, Jimi Toomes, Carmel Carr, Ian M. Roberts, Emma Hampshire, Daniel J. Crow, Yanik J. Mighell, Alan J. Karbani, Gulshan Jafri, Hussain Rashid, Yasmin Mueller, Robert F. Markham, Alexander F. Woods, Geoffrey C.

Journal: American journal of human genetics

Citation: P. Jackson, Andrew et al., Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain, American journal of human genetics , 71(1), 2002, pp. 136-142

Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L

Authors: Watkins, David Ru, Ming Hwang, Hye-Yeon Kim, Caroline D. Murray, Angus Philip, Noah S. Kim, William Legakis, Helen Wai, Timothy Hilton, John F. Ge, Bing Doré, Carole Hosack, Angela Wilson, Aaron Gravel, Roy A. Shane, Barry Hudson, Thomas J. Rosenblatt, David S.

Journal: American journal of human genetics

Citation: Watkins, David et al., Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L, American journal of human genetics , 71(1), 2002, pp. 143-153

Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes

Authors: Schrijver, Iris Liu, Wanguo Odom, Raanan Brenn, Thomas Oefner, Peter Furthmayr, Heinz Francke, Uta

Journal: American journal of human genetics

Citation: Schrijver, Iris et al., Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes, American journal of human genetics , 71(2), 2002, pp. 223-237

Powerful Regression-Based Quantitative-Trait Linkage Analysis of General Pedigrees

Authors: Sham, Pak C. Purcell, Shaun Cherny, Stacey S. Abecasis, Gonçalo R.

Journal: American journal of human genetics

Citation: C. Sham, Pak et al., Powerful Regression-Based Quantitative-Trait Linkage Analysis of General Pedigrees, American journal of human genetics , 71(2), 2002, pp. 238-253

Absence of Age Effect on Meiotic Recombination between Human X and Y Chromosomes

Authors: Shi, Quinghua Spriggs, Elizabeth Field, Leigh L. Rademaker, Alfred Ko, Evelyn Barclay, Leona Martin, Renée H.

Journal: American journal of human genetics

Citation: Shi, Quinghua et al., Absence of Age Effect on Meiotic Recombination between Human X and Y Chromosomes, American journal of human genetics , 71(2), 2002, pp. 254-261

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Authors: Astuto, L. M. Bork, J. M. Weston, M. D. Askew, J. W. Fields, R. R. Orten, D. J. Ohliger, S. J. Riazuddin, S. Morell, R. J. Khan, S. Riazuddin, S. Kremer, H. van Hauwe, P. Moller, C. G. Cremers, C. W. R. J. Ayuso, C. Heckenlively, J. R. Rohrschneider, K. Spandau, U. Greenberg, J. Ramesar, R. Reardon, W. Bitoun, P. Millan, J. Legge, R. Friedman, T. B. Kimberling, W. J.

Journal: American journal of human genetics

Citation: M. Astuto, L. et al., CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness, American journal of human genetics , 71(2), 2002, pp. 262-275

Heterozygous Submicroscopic Inversions Involving Olfactory Receptor.Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation

Authors: Giglio, Sabrina Calvari, Vladimiro Gregato, Giuliana Gimelli, Giorgio Camanini, Silvia Giorda, Roberto Ragusa, Angela Guerneri, Silvana Selicorni, Angelo Stumm, Marcus Tonnies, Holger Ventura, Mario Zollino, Marcella Neri, Giovanni Barber, John Wieczorek, Dagmar Rocchi, Mariano Zuffardi, Orsetta

Journal: American journal of human genetics

Citation: Giglio, Sabrina et al., Heterozygous Submicroscopic Inversions Involving Olfactory Receptor.Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation, American journal of human genetics , 71(2), 2002, pp. 276-285

Species Differences in TSIX/Tsix Reveal the Roles of These Genes in X-Chromosome Inactivation

Authors: Migeon, Barbara R. Lee, Catherine H. Chowdhury, Ashis K. Carpenter, Heater

Journal: American journal of human genetics

Citation: R. Migeon, Barbara et al., Species Differences in TSIX/Tsix Reveal the Roles of These Genes in X-Chromosome Inactivation, American journal of human genetics , 71(2), 2002, pp. 286-293

Atypical 5. Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping

Authors: Hefferon, Timothy W. Broackes-Carter, Fiona C. Harris, Ann Cutting, Garry R.

Journal: American journal of human genetics

Citation: W. Hefferon, Timothy et al., Atypical 5. Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping, American journal of human genetics , 71(2), 2002, pp. 294-303

Testing for Population Subdivision and Association in Four Case-Control Studies

Authors: Ardlie, Kristin G. Lunetta, Kathryn L. Seielstad, Mark

Journal: American journal of human genetics

Citation: G. Ardlie, Kristin et al., Testing for Population Subdivision and Association in Four Case-Control Studies, American journal of human genetics , 71(2), 2002, pp. 304-311

A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements

Authors: Myers, Jeremy S. Vincent, Bethaney J. Udall, Hunt Scott Watkins, W. Morrish, Tammy A. Kilroy, Gail E. Swergold, Gary D. Henke, Jurgen Henke, Lotte Moran, John V. Jorde, Lynn B. Batzer, Mark A.

Journal: American journal of human genetics

Citation: S. Myers, Jeremy et al., A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements, American journal of human genetics , 71(2), 2002, pp. 312-326

Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I

Authors: Brouha, Brook Meischl, Cristof Ostertag, Eric de Boer, Martin Zhang, Yue Neijens, Herman Roos, Dirk Kazazian Jr., Haig H.

Journal: American journal of human genetics

Citation: Brouha, Brook et al., Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I, American journal of human genetics , 71(2), 2002, pp. 327-336

Genetic Variation in the 6p22.3 Gene DTNBP1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated with Schizophrenia

Authors: Straud, Richard E. Jiang, Yuxin MacLean, Charles J. Ma, Yunlong Webb, Bradley T. Myakishev, Maxim V. Harris-Kerr, Carole Wormley, Brandon Sadek, Hannah Kadambi, Bharat Cesare, Anthony J. Gibberman, Avi Wang, Xu O'Neill, Anthony F. Walsh, Dermot Kendler, Kenneth S.

Journal: American journal of human genetics

Citation: E. Straud, Richard et al., Genetic Variation in the 6p22.3 Gene DTNBP1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated with Schizophrenia, American journal of human genetics , 71(2), 2002, pp. 337-348

Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families

Authors: Marazita, Mary L. Field, L. Leigh Cooper, Margaret E. Tobias, Rose Maher, Brion S. Peanchitlertkajorn, Supakit Liu, You-e

Journal: American journal of human genetics

Citation: L. Marazita, Mary et al., Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families, American journal of human genetics , 71(2), 2002, pp. 349-364

Results: 1-25 | 26-50 | 51-75 | 76-85