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Results : 76-100/181

Extensive Normal Copy Number Variation of a .-Defensin Antimicrobial-Gene Cluster

Authors: Hollox, E.J. Armour, J.A.L. Barber, J.C.K.

Journal: American journal of human genetics

Citation: Hollox, E.j et al., Extensive Normal Copy Number Variation of a .-Defensin Antimicrobial-Gene Cluster, American journal of human genetics , 73(3), 2003, pp. 591-600

Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test

Authors: Mitchell, Adele A. Cutler, David J. Chakravarti, Aravinda

Journal: American journal of human genetics

Citation: A. Mitchell, Adele et al., Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test, American journal of human genetics , 72(3), 2003, pp. 598-610

Genomewide Linkage Scan for Schizophrenia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 10q22

Authors: Fallin, M. Daniele Lasseter, Virginia K. Wolyniec, Paula S. McGrath, John A. Nestadt, Gerald Valle,David Liang, Kung-Lee Pulver, Ann E.

Journal: American journal of human genetics

Citation: Fallin, M. Daniele et al., Genomewide Linkage Scan for Schizophrenia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 10q22, American journal of human genetics , 73(3), 2003, pp. 601-611

A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data

Authors: Epstein, Michael P. Lin, Xihong Boehnke, Michael

Journal: American journal of human genetics

Citation: P. Epstein, Michael et al., A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data, American journal of human genetics , 72(3), 2003, pp. 611-620

Novel Case-Control Test in a Founder Population Identifies P-Selectin as an Atopy-Susceptibility Locus

Authors: Bourgain, Catherine Hoffjan, Sabine Nicolae, Raluca Newman, Dina Steiner, Lori Walker, Karen Reynolds, Rebecca Ober, Carole McPeek, Mary Sara

Journal: American journal of human genetics

Citation: Bourgain, Catherine et al., Novel Case-Control Test in a Founder Population Identifies P-Selectin as an Atopy-Susceptibility Locus, American journal of human genetics , 73(3), 2003, pp. 612-626

Extensive Linkage Disequilibrium, a Common 16.7-Kilobase Deletion, and Evidence of Balancing Selection in the Human Protocadherin . Cluster

Authors: Noonan, James P. Li, Jun Nguyen, Loan Caoile, Chenier Dickson, Mark Grimwood, Jane Schmutz, Jeremy Feldman, Marcus W. Myers, Richard M.

Journal: American journal of human genetics

Citation: P. Noonan, James et al., Extensive Linkage Disequilibrium, a Common 16.7-Kilobase Deletion, and Evidence of Balancing Selection in the Human Protocadherin . Cluster, American journal of human genetics , 72(3), 2003, pp. 621-635

Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes

Authors: Yang, Quanhe Khoury, Muin J. Botto, Lorenzo Friedman, J.M. Flanders, W. Dana

Journal: American journal of human genetics

Citation: Yang, Quanhe et al., Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes, American journal of human genetics , 72(3), 2003, pp. 639-649

Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

Authors: Badano, José L: Ansley, Stephen J. Leitch, Carmen C. Lewis, Richard Alan Lupski, James R. Katsanis, Nicholas

Journal: American journal of human genetics

Citation: Badano, José L: et al., Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2, American journal of human genetics , 72(3), 2003, pp. 650-658

The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates

Authors: Howell, Neil Bogolin Smejkal, Christy Mackey, D.A. Chinnery, P.F. Tunbull, D.M. Herrnstadt, Corinna

Journal: American journal of human genetics

Citation: Howell, Neil et al., The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates, American journal of human genetics , 72(3), 2003, pp. 659-670

Informative Missingness in Genetic Association Studies: Case-Parent Designs

Authors: Allen, Andrew S. Rathouz, Paul J. Satten, Glen A.

Journal: American journal of human genetics

Citation: S. Allen, Andrew et al., Informative Missingness in Genetic Association Studies: Case-Parent Designs, American journal of human genetics , 72(3), 2003, pp. 671-680

Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

Authors: Sung, Sandy S. Brassington, Anna-Marie E. Grannatt, Kathryn Rutherford, Ann Whitby, Frank G. Krakowiak, Patrycja A. Jorde, Lynn B. Carey, John C. Bamshad, Mike

Journal: American journal of human genetics

Citation: S. Sung, Sandy et al., Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes, American journal of human genetics , 72(3), 2003, pp. 681-690

Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease

Authors: Li, Airong Davila, Sonia Furu, Laszlo Qian, Qi Tian, Xin Kamath, Patrick S. King, Bernard F. Torres, Vicente E. Somlo, Stefan

Journal: American journal of human genetics

Citation: Li, Airong et al., Mutations in PRKCSH Cause Isolated Autosomal Dominant Polycystic Liver Disease, American journal of human genetics , 72(3), 2003, pp. 691-703

HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites

Authors: Rossman, Milton D. Thompson, Bruce Frederick, Margaret Maliarik, Mary Iannuzzi, Michael C. Rybicki, Benjamin A. Pandey, Janardan P. Newman, Lee S. Magira, Eleni Beznik-Cizman, Bojana Monos, Dimitri ACCESS Group

Journal: American journal of human genetics

Citation: D. Rossman, Milton et al., HLA-DRB11101: A Significant Risk Factor for Sarcoidosis in Blacks and Whites, American journal of human genetics , 73(4), 2003, pp. 720-735

Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families

Authors: Tomer, Yaron Ban, Yoshiyuki Concepcion, Erlinda Barbesino, Giuseppe Villanueva, Ronald Greenberg, David A. Davies, Terry F.

Journal: American journal of human genetics

Citation: Tomer, Yaron et al., Common and Unique Susceptibility Loci in Graves and Hashimoto Diseases: Results of Whole-Genome Screening in a Data Set of 102 Multiplex Families, American journal of human genetics , 73(4), 2003, pp. 736-747

Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions

Authors: Miller, Brian J. Wang, Daolong Krahe, Ralf Wright, Fred A.

Journal: American journal of human genetics

Citation: J. Miller, Brian et al., Pooled Analysis of Loss of Heterozygosity in Breast Cancer: a Genome Scan Provides Comparative Evidence for Multiple Tumor Suppressors and Identifies Novel Candidate Regions, American journal of human genetics , 73(4), 2003, pp. 748-767

Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries

Authors: Behar, Doron M. Thomas, Mark G. Skorecki, Karl Hammer, Michael F. Bulygina, Ekaterina Rosengarten, Dror Jones, Abigail L. Held, Karen Moses, Vivian Goldstein, David Bradman, Neil Weale, Michael E.

Journal: American journal of human genetics

Citation: M. Behar, Doron et al., Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries, American journal of human genetics , 73(4), 2003, pp. 768-779

A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions

Authors: Seddon, Johanna M. Santangelo, Susan L. Book, Kathryn Chong, Sandy Cote, Jennifer

Journal: American journal of human genetics

Citation: M. Seddon, Johanna et al., A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions, American journal of human genetics , 73(4), 2003, pp. 780-790

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Authors: Hanks, Sandra Adams, Sarah Douglas, Jenny Arbour, Laura Atherton, David J. Balci, Sevim Bode, Harald Campbell, Mary E. Feingold, Murray Keser, Gökhan Kleijer, Wim Mancini, Grazia McGrath, John A. Muntoni, Francesco Nanda, Arti Dawn Teare, M. Warman, Matthew Pope, E. Michael Superti-Furga, Andrea Futreal, P. Andrew Rahman, Nazneen

Journal: American journal of human genetics

Citation: Hanks, Sandra et al., Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis, American journal of human genetics , 73(4), 2003, pp. 791-800

Using the Noninformative Families in Family-Based Association Tests: A Powerful New Testing Strategy

Authors: Lange,"DeMeo, Dawn L. Silverman, Edwin K. Weiss, Scott T. Laird, Nan M.

Journal: American journal of human genetics

Citation: L. Lange,"demeo, Dawn et al., Using the Noninformative Families in Family-Based Association Tests: A Powerful New Testing Strategy, American journal of human genetics , 73(4), 2003, pp. 801-811

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

Authors: Walt, Joelle M. , Van: der Nicodemus, Kristin K. Martin, Eden R. Scott, William K. Nance, Martha A. Watts, Ray L. Hubble, Jean P. Haines, Jonathan L. Koller, William C. Lyons, Kelly Pahwa, Rajesh Stern, Matthew B. Colcher, Amy Hiner, Bradley C. Jankovic, Joseph Ondo, William G. Allen, Fred H. , Jr. Goetz, Chistopher G. Small, Gary W. Mastaglia, Frank Stajich, Jeffrey M. McLaurin, Adam C. Middleton, Lefkos T. Scott, Burton L. Schmechel, Donald E. Pericak-Vance, Margaret A. Vance, Jeffrey M.

Journal: American journal of human genetics

Citation: Walt, Joelle M. , Van: Der et al., Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease, American journal of human genetics , 72(4), 2003, pp. 804-811

Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection

Authors: Risch, Neil Tang, Hua Katzenstein, Howard Ekstein, Josef

Journal: American journal of human genetics

Citation: Risch, Neil et al., Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection, American journal of human genetics , 72(4), 2003, pp. 812-822

Genomewide Linkage and Linkage Disequilibrium Analyses Identify COL6A1, on Chromosome 21, as the Locus for Ossification of the Posterior Longitudinal Ligament of the Spine

Authors: Tanaka, Toshihiro Ikari, Katsunori Furoshima, Kozo Okada, Akihiro Tanaka, Hiroshi Furukawa, Ken-Ichi Yoshida, Kenichi Ikeda, Toshiyuki Ikegawa, Shiro Hunt, Steven C. Takeda, Jun Toh, Satoshi Harata, Seiko Nakajima, Toshiaki Inoue, Ituro

Journal: American journal of human genetics

Citation: Tanaka, Toshihiro et al., Genomewide Linkage and Linkage Disequilibrium Analyses Identify COL6A1, on Chromosome 21, as the Locus for Ossification of the Posterior Longitudinal Ligament of the Spine, American journal of human genetics , 73(4), 2003, pp. 812-822

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

Authors: Bailey, Jeffrey A. Liu, Ge Eichler, Evan E.

Journal: American journal of human genetics

Citation: A. Bailey, Jeffrey et al., An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications, American journal of human genetics , 73(4), 2003, pp. 823-834

ATLAS: A System to Selectively Identify Human-Specific L1 Insertions

Authors: Badge, Richard M. Alisch, Reid S. Moran, John V.

Journal: American journal of human genetics

Citation: M. Badge, Richard et al., ATLAS: A System to Selectively Identify Human-Specific L1 Insertions, American journal of human genetics , 72(4), 2003, pp. 823-838

Confirmation of the Type 2 Myotonic Dystrophy (CCTG)n Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

Authors: Bachinski, Linda L. Udd, Bjarne Meola, Giovanni Sansone, Valeria Bassez, Guillaume Eymard, Bruno Thronton, Charles A. Moxley, Richard T. Harper, Peter S. Rogers, Mark T. Jurkat-Rott, Karin Lehmann-Horn, Frank Wieser, Thomas Gamez, Josep Navarro, Carmen Bottani, Armand Kohler, Andre Shriver, Mark D. Sallinen, Riitta Wessman, Maija Zhang, Shanxiang Wright, Fred A. Krahe, Ralf

Journal: American journal of human genetics

Citation: L. Bachinski, Linda et al., Confirmation of the Type 2 Myotonic Dystrophy (CCTG)n Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect, American journal of human genetics , 73(4), 2003, pp. 835-848

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