A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree von TIMMS, Kirsten M, WAGNER, Susanne, SAMUELS, Mark E, FORBEY, Kristian, GOLDFINE, Howard, JAMMULAPATI, Srikanth, SKOLNICK, Mark H, HOPKINS, Paul N, HUNT, Steve C, SHATTUCK, Donna M

Volltext

A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types von Kamb, Alexander, Gruis, Nelleke A., Weaver-Feldhaus, Jane, Liu, Qingyun, Harshman, Keith, Tavtigian, Sean V., Stockert, Elisabeth, Day, Rufus S., Johnson, Bruce E., Skolnick, Mark H.

Volltext

Systematic Population-Based Assessment of Cancer Risk in First-Degree Relatives of Cancer Probands von Goldgar, David. E., Easton, Douglas. F., Cannon-Albright, Lisa. A., Skolnick, Mark H.

Volltext

A Major Predisposition Locus for Severe Obesity, at 4p15-p14 von Stone, Steven, Abkevich, Victor, Hunt, Steven C., Gutin, Alexander, Russell, Deanna L., Neff, Chris D., Riley, Robyn, Frech, Georges C., Hensel, Charles H., Jammulapati, Srikanth, Potter, Jennifer, Sexton, David, Tran, Thanh, Gibbs, Drew, Iliev, Diana, Gress, Richard, Bloomquist, Brian, Amatruda, John, Peter Rae, M.M., Ted Adams, D., Mark Skolnick, H., Shattuck, Donna

Volltext

Genetic Localization to Chromosome 1p32 of the Third Locus for Familial Hypercholesterolemia in a Utah Kindred von Hunt, Steven C, Hopkins, Paul N, Bulka, Katrina, McDermott, Michael T, Thorne, Thomas L, Wardell, Bryan B, Bowen, Benjamin R, Ballinger, Dennis G, Skolnick, Mark H, Samuels, Mark E

Volltext

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome von Barker, David F., Hostikka, Sirkka Liisa, Zhou, Jing, Chow, Louise T., Oliphant, Arnold R., Gerken, Steven C., Gregory, Martin C., Skolnick, Mark H., Atkin, Curtis L., Tryggvason, Karl

Volltext

TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition von Stone, Steven, Abkevich, Victor, Russell, Deanna L., Riley, Robyn, Timms, Kirsten, Tran, Thanh, Trem, Deborah, Frank, David, Jammulapati, Srikanth, Neff, Chris D., Iliev, Diana, Gress, Richard, He, Gongping, Frech, Georges C., Adams, Ted D., Skolnick, Mark H., Lanchbury, Jerry S., Gutin, Alexander, Hunt, Steven C., Shattuck, Donna

Volltext

Genome-wide linkage analyses of extended Utah pedigrees identifies loci that influence recurrent, early-onset major depression and anxiety disorders von Camp, Nicola J., Lowry, Michael R., Richards, R. Lynn, Plenk, Agnes M., Carter, Catherine, Hensel, Charles H., Abkevich, Victor, Skolnick, Mark H., Shattuck, Donna, Rowe, Kerry G., Hughes, Dana C., Cannon-Albright, Lisa A.

Volltext

Rates of p16 (MTS1) Mutations in Primary Tumors with 9p Loss von Cairns, Paul, Mao, Li, Merlo, Adrian, Lee, Daniel J., Schwab, Donna, Eby, Yolanda, Tokino, Kaori, van der Riet, Peter, Blaugrund, James E., Sidransky, David, Kamb, Alexander, Liu, Qingyun, Harshman, Keith, Tavtigian, Sean, Cordon-Cardo, Carlos, Skolnick, Mark H.

Volltext

Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case–control series von Fujiwara, H., Emi, M., Nagai, H., Nishimura, T., Konishi, N., Kubota, Y., Ichikawa, T., Takahashi, S., Shuin, T., Habuchi, T., Ogawa, O., Inoue, K., Skolnick, M. H., Swensen, J., Camp, N. J., Tavtigian, S. V.

Volltext

Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22 von Cannon-Albright, Lisa A., Goldgar, David E., Meyer, Laurence J., Lewis, Cathryn M., Anderson, David E., Fountain, Jane W., Hegi, Monika E., Wiseman, Roger W., Petty, Elizabeth M., Bale, Allen E., Olopade, Olufunmilayo I., Diaz, Manuel O., Kwiatkowski, David J., Piepkorn, Michael W., Zone, John J., Skolnick, Mark H.

Volltext

Prostate Cancer Susceptibility Locus HPC1 in Utah High-Risk Pedigrees von Neuhausen, Susan L., Farnham, ames M., Kort, Edward, Tavtigian, Sean V., Skolnick, Mark H., Cannon-Albright, Lisa A.

Volltext

Familiality of cancer in Utah von CANNON-ALBRIGHT, L. A, THOMAS, A, GOLDGAR, D. E, GHOLAMI, K, ROWE, K, JACOBSEN, M, MCWHORTER, W. P, SKOLNICK, M. H

Volltext

Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM) von CANNON-ALBRIGHT, L. A, MEYER, L. J, GOLDGAR, D. E, LEWIS, C. M, MCWHORTER, W. P, JOST, M, HARRISON, D, ANDERSON, D. E, ZONE, J. J, SKOLNICK, M. H

Volltext

Localization of a Putative Tumor Suppressor Gene by Using Homozygous Deletions in Melanomas von Weaver-Feldhaus, J, Gruis, N A, Neuhausen, S, Le Paslier, D, Stockert, E, Skolnick, M H, Kamb, A

Volltext

Testing for Hereditary Cancer Risk: Pandora or Prometheus? von Frank, Thomas S, Skolnick, Mark H

Volltext

A candidate prostate cancer susceptibility gene at chromosome 17p von Tavtigian, Sean V., Simard, Jacques, Teng, David H.F., Abtin, Vicki, Baumgard, Michelle, Beck, Audrey, Camp, Nicola J., Carillo, Arlene R., Chen, Yang, Dayananth, Priya, Desrochers, Marc, Dumont, Martine, Farnham, James M., Frank, David, Frye, Cheryl, Ghaffari, Siavash, Gupte, Jamila S., Hu, Rong, Iliev, Diana, Janecki, Teresa, Kort, Edward N., Laity, Kirsten E., Leavitt, Amber, Leblanc, Gilles, McArthur-Morrison, Jodi, Pederson, Amy, Penn, Brandon, Peterson, Kelly T., Reid, Julia E., Richards, Sam, Schroeder, Marianne, Smith, Richard, Snyder, Sarah C., Swedlund, Brad, Swensen, Jeff, Thomas, Alun, Tranchant, Martine, Woodland, Ann-Marie, Labrie, Fernand, Skolnick, Mark H., Neuhausen, Susan, Rommens, Johanna, Cannon-Albright, Lisa A.

Volltext

A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1 von Miki, Yoshio, Swensen, Jeff, Shattuck-Eidens, Donna, Futreal, P. Andrew, Harshman, Keith, Tavtigian, Sean, Liu, Qingyun, Cochran, Charles, Bennett, L. Michelle, Ding, Wei, Bell, Russell, Rosenthal, Judith, Hussey, Charles, Tran, Thanh, McClure, Melody, Frye, Cheryl, Hattier, Tom, Phelps, Robert, Haugen-Strano, Astrid, Katcher, Harold, Yakumo, Kazuko, Gholami, Zahra, Shaffer, Daniel, Stone, Steven, Bayer, Steven, Wray, Christian, Bogden, Robert, Dayananth, Priya, Ward, John, Tonin, Patricia, Narod, Steven, Bristow, Pam K., Norris, Frank H., Helvering, Leah, Morrison, Paul, Rosteck, Paul, Lai, Mei, Barrett, J. Carl, Lewis, Cathryn, Neuhausen, Susan, Cannon-Albright, Lisa, Goldgar, David, Wiseman, Roger, Kamb, Alexander, Skolnick, Mark H.

Volltext

Predisposition Locus for Major Depression at Chromosome 12q22-12q23.2 von Abkevich, Victor, Camp, Nicola J., Hensel, Charles H., Neff, Chris D., Russell, Deanna L., Hughes, Dana C., Plenk, Agnes M., Lowry, Michael R., Richards, R. Lynn, Carter, Catherine, Frech, Georges C., Stone, Steven, Rowe, Kerry, Chau, Chi Ai, Cortado, Kathleen, Hunt, Angelene, Luce, Karanina, O’Neil, Gayanne, Poarch, Jeff, Potter, Jennifer, Poulsen, Gregg H., Saxton, Heidi, Bernat-Sestak, Michelle, Thompson, Victor, Gutin, Alexander, Skolnick, Mark H., Shattuck, Donna, Cannon-Albright, Lisa

Volltext

BRCA1 Mutations in Primary Breast and Ovarian Carcinomas von Futreal, P. Andrew, Liu, Qingyun, Shattuck-Eidens, Donna, Cochran, Charles, Harshman, Keith, Tavtigian, Sean, Bennett, L. Michelle, Haugen-Strano, Astrid, Swensen, Jeff, Miki, Yoshio, Eddington, Ken, McClure, Melody, Frye, Cheryl, Weaver-Feldhaus, Jane, Ding, Wei, Gholami, Zahra, Söderkvist, Peter, Terry, Lori, Jhanwar, Suresh, Berchuck, Andrew, Iglehart, J. Dirk, Marks, Jeff, Ballinger, Dennis G., Barrett, J. Carl, Skolnick, Mark H., Kamb, Alexander, Wiseman, Roger

Volltext