LEPPERT, MARK : rechercher sur Z-Library

Bovill, Edwin G., Hasstedt, Sandra J., Leppert, Mark F., Long, George L.

Année:

1993

Fichier:

PDF, 698 KB

1993

Hereditary Thrombophilia as a Model for Multigenic Disease

Journal:

Thrombosis and Haemostasis

Année:

1999

Langue:

english

Fichier:

PDF, 114 KB

english, 1999

Microcephaly with simplified gyral pattern in six related children

Peiffer, Andy, Singh, Nanda, Leppert, Mark, Dobyns, William B., Carey, John C.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 741 KB

english, 1999

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

Andy Peiffer, Joel Thompson, Carole Charlier, Brith Otterud, Tena Varvil, Chris Pappas, Craig Barnitz, Kristen Gruenthal, Renée Kuhn, Mark Leppert

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 309 KB

english, 1999

Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study

Kevin M. Flanigan, Lynne Kerr, Mark B. Bromberg, Claire Leonard, Jay Tsuruda, Ping Zhang, Ignacio Gonzalez-Gomez, Ronald Cohn, Kevin P. Campbell, Mark Leppert

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2000

C to T nucleotide substitution in codon 713 of amyloid precursor protein gene not found in 86 unrelated schizophrenics from multiplex families

Hilary Coon, Mark Hoff, John Holik, Lynn E. Delisi, Timothy Crowe, Robert Freedman, Gail Shields, Angela M. Boccio, Melissa Lerman, Elliot S. Gershon, Pablo V. Gejman, Mark Leppert, William Byerley

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 402 KB

english, 1993

Genomic scan for genes predisposing to schizophrenia

Hilary Coon, Steven Jensen, John Holik, Mark Hoff, Marina Myles-Worsley, Fred Reimherr, Paul Wender, Merilyne Waldo, Robert Freedman, Mark Leppert, William Byerley

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 1.40 MB

english, 1994

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12

Steven B. Bleyl, Lorenzo D. Botto, John C. Carey, Luciana T. Young, Michael J. Bamshad, Mark F. Leppert, Kenneth Ward

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 175 KB

english, 2006

Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2)

Hilary Coon, Diane Dunn, Janet Lainhart, Judith Miller, Cindy Hamil, Agatino Battaglia, Raffaella Tancredi, Mark F. Leppert, Robert Weiss, William McMahon

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 71 KB

english, 2005

Linkage analysis of Tourette syndrome in a large utah pedigree

Stacey Knight, Hilary Coon, Michael Johnson, Mark F. Leppert, Nicola J. Camp, William M. McMahon

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 182 KB

english, 2010

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

Kathryn J. Swoboda, Emmanuel Kanavakis, Athina Xaidara, Justine E. Johnson, Mark F. Leppert, Mylynda B. Schlesinger-Massart, Louis J. Ptacek, Kenneth Silver, Sotiris Youroukos

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 171 KB

english, 2004

Discordance of T-cell receptor β-chain genes in familial multiple sclerosis

Sharon G. Lynch, Dr. John W. Rose, Jack H. Petajan, Dora Stauffer, Craig Kamerath, Mark Leppert

Journal:

Dr. Louis J. Ptacek, Launce Gouw, Hubert Kwieciński, Philip McManis, Jerry R. Mendell, Richard J. Barohn, Aflfred L. George JR., Rebert L. Barchi, Margaret Robertson, Mark F. Leppert

Année:

1991

Langue:

english

Fichier:

PDF, 728 KB

english, 1991

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

Journal:

Wade S. Samowitz, Karen Curtin, Mark F. Leppert, Martha L. Slattery

Année:

1993

Langue:

english

Fichier:

PDF, 1.01 MB

english, 1993

Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancer

Journal:

Genes, Chromosomes and Cancer

Année:

2001

Langue:

english

Fichier:

PDF, 70 KB

english, 2001

Reduced dermatopontin expression is a molecular link between uterine leiomyomas and keloids

William H. Catherino, Phyllis C. Leppert, Matthew H. Stenmark, Mark Payson, Clariss Potlog-Nahari, Lynnette K. Nieman, James H. Segars

Journal:

Genes, Chromosomes and Cancer

Année:

2004

Langue:

english

Fichier:

PDF, 2.17 MB

english, 2004

Prognostic significance of p53 mutations in colon cancer at the population level

Wade S. Samowitz, Karen Curtin, Khe-ni Ma, Sandra Edwards, Donna Schaffer, Mark F. Leppert, Martha L. Slattery

Journal:

International Journal of Cancer

Année:

2002

Langue:

english

Fichier:

PDF, 79 KB

english, 2002

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer

Deborah W Neklason, Therese M Tuohy, Jeffery Stevens, Brith Otterud, Lisa Baird, Richard A Kerber, Wade S Samowitz, Scott K Kuwada, Mark F Leppert, Randall W Burt

Journal:

Hereditary Cancer in Clinical Practice

Année:

2010

Langue:

english

Fichier:

PDF, 127 KB

english, 2010

R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1)

Ei-ichi Takahashi, Tada-aki Hori, Peter O'Connell, Mark Leppert, Ray White

Journal:

Journal of Human Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 714 KB

english, 1990

Human type II collagen gene (COL2A1) assigned to chromosome 12q13.1-q13.2 byin situhybridization with biotinylated DNA probe

Ei-ichi Takahashi, Tada-aki Hori, Jeanne B. Lawrence, John McNeil, Robert H. Singer, Peter O'Connell, Mark Leppert, Ray White

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 553 KB

english, 1989

SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex

Paul J. Norman, Mark A. Cook, B. Sean Carey, Christine V. F. Carrington, David H. Verity, Kamran Hameed, D. Dan Ramdath, Dasnayanee Chandanayingyong, Mark Leppert, Henry A. F. Stephens, R. W. Vaughan

Journal:

Immunogenetics

Année:

2004

Langue:

english

Fichier:

PDF, 497 KB

english, 2004

A genome-wide screen reveals evidence for a locus on chromosome

Hilary Coon, John H. Eckfeldt, Mark F. Leppert, Richard H. Myers, Donna K. Arnett, Gerardo Heiss, Michael A. Province, Steven C. Hunt

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 78 KB

english, 2002

Genome-wide linkage analysis replicates susceptibility locus for fasting plasma triglycerides: NHLBI Family Heart Study

Donna K. Arnett, Michael B. Miller, Hilary Coon, R. Curtis Ellison, Kari E. North, Michael Province, Mark Leppert, John H. Eckfeldt

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 142 KB

english, 2004

A longitudinal study of X-inactivation ratio in human females

Ionel Sandovici, Anna K. Naumova, Mark Leppert, Yendi Linares, Carmen Sapienza

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 247 KB

english, 2004

The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

Lisa Spirio, Jane Green, Jennifer Robertson, Margaret Robertson, Brith Otterud, John Sheldon, Erica Howse, Roger Green, Joanna Groden, Ray White, Mark Leppert

Journal:

Alka Malhotra, Kevin Cromer, Mark F. Leppert, Sandra J. Hasstedt

Année:

2000

Langue:

english

Fichier:

PDF, 9 KB

english, 2000

Variation in the checkpoint kinase 2gene is associated with type 2 diabetes in multiple populations

Kari E. North, Nora Franceschini, Christy L. Avery, Lisa Baird, Mariaelisa Graff, Mark Leppert, Jay H. Chung, Jinghui Zhang, Craig Hanis, Eric Boerwinkle, Kelly A. Volcik, Megan L. Grove, Thomas H. Mo

Journal:

Acta Diabetologica

Année:

2010

Langue:

english

Fichier:

PDF, 278 KB

english, 2010

The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees

Journal:

Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 215 KB

english, 2005

Inhibition of invasion-associated thromboxane synthase sensitizes experimental gliomas to γ-radiation

Anne Katrin Schauff, Ella L. Kim, Jan Leppert, Roger Nadrowitz, Robin Wuestenberg, Mark Alexander Brockmann, Alf Giese

Journal:

Journal of Neuro-Oncology

Année:

2009

Langue:

english

Fichier:

PDF, 420 KB

english, 2009

Novel K+ Channel Genes in Benign Familial Neonatal Convulsions

Mark Leppert

Journal:

Epilepsia

Année:

2000

Langue:

english

Fichier:

PDF, 205 KB

english, 2000

Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions

James F. Otto, Nanda A. Singh, E. Jill Dahle, Mark F. Leppert, Chris M. Pappas, Timothy H. Pruess, Karen S. Wilcox, H. Steve White

Journal:

Epilepsia

Année:

2009

Langue:

english

Fichier:

PDF, 196 KB

english, 2009

Construction of linkage maps with DNA markers for human chromosomes

White, Ray, Leppert, Mark, Bishop, D. Timothy, Barker, David, Berkowitz, Jon, Brown, Candace, Callahan, Patricia, Holm, Tom, Jerominski, Leslie

Journal:

Année:

1985

Fichier:

PDF, 576 KB

1985

A closely linked genetic marker for cystic fibrosis

White, Ray, Woodward, Scott, Leppert, Mark, O'Connell, Peter, Hoff, Mark, Herbst, John, Lalouel, Jean-Marc, Dean, Michael, Vande Woude, George

Journal:

Année:

1985

Fichier:

PDF, 346 KB

1985

Benign familial neonatal convulsions linked to genetic markers on chromosome 20

Quattlebaum, T., Stauffer, Dora, O'Connell, Peter, Nakamura, Yusuke, Lalouel, Jean-Marc, White, Ray, Leppert, Mark, Anderson, V. Elving

Journal:

Année:

1989

Fichier:

PDF, 219 KB

1989

10.1038/38653

White, Ray, Spirio, Lisa N., Samowitz, Wade, Robertson, Jennifer, Robertson, Margaret, Burt, Randall W., Leppert, Mark

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 960 KB

english, 1997

10.1038/3865

White, Ray, Spirio, Lisa N., Samowitz, Wade, Robertson, Jennifer, Robertson, Margaret, Burt, Randall W., Leppert, Mark

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 139 KB

english, 1998

10.1038/38650

White, Ray, Spirio, Lisa N., Samowitz, Wade, Robertson, Jennifer, Robertson, Margaret, Burt, Randall W., Leppert, Mark

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 971 KB

english, 1997

10.1038/38656

White, Ray, Spirio, Lisa N., Samowitz, Wade, Robertson, Jennifer, Robertson, Margaret, Burt, Randall W., Leppert, Mark

Journal:

The Journal of Investigative Dermatology

Année:

1997

Langue:

english

Fichier:

PDF, 241 KB

english, 1997

Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22

Li, Yonghong, Liao, Wilson, Chang, Monica, Schrodi, Steven J, Bui, Nam, Catanese, Joseph J, Poon, Annie, Matsunami, Nori, Callis-Duffin, Kristina P, Leppert, Mark F

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 123 KB

english, 2008

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

Charlier, Carole, Singh, Nanda A., Ryan, Stephen G., Lewis, Tracey B., Reus, Bonnie E., Leach, Robin J., Leppert, Mark

Journal:

Leppert, Mark, Baird, Lisa, Anderson, Kent L., Otterud, Brith, Lupski, James R., Lewis, Richard Alan

Année:

1998

Fichier:

PDF, 566 KB

1998

Bardet–Biedl syndrome is linked to DNA markers on chromosome 11 q and is genetically heterogeneous

Journal:

Année:

1994

Fichier:

PDF, 553 KB

1994

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

Gouw, Launce G., Kaplan, Craig D., Haines, John H., Digre, Kathleen B., Rutledge, S. Lane, Matilla, Antoni, Leppert, Mark, Zoghbi, Huda Y., Ptácek, Louis J.

Journal: