18 results for author:"Skolnick M.H." in Literature citations
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| Evidence for HTR1A and LHPP as interacting genetic risk factors in major depression. Neff C.D., Abkevich V., Packer J.C., Chen Y., Potter J., Riley R., Davenport C., DeGrado Warren J., Jammulapati S., Bhathena A. et al. Mol. Psychiatry 14:621-630(2009) · Mapped (5) |
| Genomic DNA pooling for whole-genome association scans in complex disease: empirical demonstration of efficacy in rheumatoid arthritis. Steer S., Abkevich V., Gutin A., Cordell H.J., Gendall K.L., Merriman M.E., Rodger R.A., Rowley K.A., Chapman P., Gow P. et al. Genes Immun. 8:57-68(2007) · Mapped (6) |
| TBC1D1 is a candidate for a severe obesity gene and evidence for a gene/gene interaction in obesity predisposition. Stone S., Abkevich V., Russell D.L., Riley R., Timms K., Tran T., Trem D., Frank D., Jammulapati S., Neff C.D. et al. Hum. Mol. Genet. 15:2709-2720(2006) · UniProtKB (1) · Mapped (6) |
| Variants in Apaf-1 segregating with major depression promote apoptosome function. Harlan J., Chen Y., Gubbins E., Mueller R., Roch J.M., Walter K., Lake M., Olsen T., Metzger P., Dorwin S. et al. Mol. Psychiatry 11:76-85(2006) · Mapped (3) |
| Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. Abkevich V., Zharkikh A., Deffenbaugh A.M., Frank D., Chen Y., Shattuck D., Skolnick M.H., Gutin A., Tavtigian S.V. J. Med. Genet. 41:492-507(2004) · UniProtKB (1) |
| A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree. Timms K.M., Wagner S., Samuels M.E., Forbey K., Goldfine H., Jammulapati S., Skolnick M.H., Hopkins P.N., Hunt S.C., Shattuck D.M. Hum. Genet. 114:349-353(2004) · Mapped (4) |
| Association of common missense changes in ELAC2 (HPC2) with prostate cancer in a Japanese case-control series. Fujiwara H., Emi M., Nagai H., Nishimura T., Konishi N., Kubota Y., Ichikawa T., Takahashi S., Shuin T., Habuchi T. et al. J. Hum. Genet. 47:641-648(2002) · UniProtKB (1) · Mapped (6) |
| A candidate prostate cancer susceptibility gene at chromosome 17p. Tavtigian S.V., Simard J., Teng D.H.F., Abtin V., Baumgard M., Beck A., Camp N.J., Carillo A.R., Chen Y., Dayananth P. et al. |
| Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. Couch F.J., Rommens J.M., Neuhausen S.L., Belanger C., Dumont M., Kenneth A., Bell R., Berry S., Bogden R., Cannon-Albright L. et al. Genomics 36:86-99(1996) · UniProtKB (2) |
| Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations. Durocher F., Shattuck-Eidens D., McClure M., Labrie F., Skolnick M.H., Goldgar D.E., Simard J. Hum. Mol. Genet. 5:835-842(1996) · UniProtKB (1) |
| Mutations in the BRCA1 gene in Japanese breast cancer patients. Katagiri T., Emi M., Ito I., Kobayashi K., Yoshimoto M., Iwase T., Kasumi F., Miki Y., Skolnick M.H., Nakamura Y. Hum. Mutat. 7:334-339(1996) · UniProtKB (1) |
| Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Teng D.H.-F., Bogden R., Mitchell J., Baumgard M., Bell R., Berry S., Davis T., Ha P.C., Kehrer R., Jammulapati S. et al. Nat. Genet. 13:241-244(1996) · UniProtKB (1) |
| The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Tavtigian S.V., Simard J., Rommens J., Couch F., Shattuck-Eidens D., Neuhausen S., Merajver S., Thorlacius S., Offit K., Stoppa-Lyonnet D. et al. Nat. Genet. 12:333-337(1996) · UniProtKB (1) |
| A cell cycle regulator potentially involved in genesis of many tumor types. Kamb A., Gruis N.A., Weaver-Feldhaus J., Liu Q., Harshman K., Tavtigian S.V., Stockert E., Day R.S. III, Johnson B.E., Skolnick M.H. Science 264:436-440(1994) · UniProtKB (2) |
| BRCA1 mutations in primary breast and ovarian carcinomas. Futreal P.A., Liu Q., Shattuck-Eidens D., Cochran C., Harshman K., Tavtigian S., Bennett L.M., Haugen-Strano A., Swensen J., Miki Y. et al. Science 266:120-122(1994) · UniProtKB (1) |
| Comparison of the positional cloning methods used to isolate the BRCA1 gene. Harshman K., Bell R., Rosenthal J., Katcher H., Miki Y., Swenson J., Gholami Z., Frye C., Ding W., Dayananth P. et al. Hum. Mol. Genet. 4:1259-1266(1995) · UniProtKB (6) |
| A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Miki Y., Swensen J., Shattuck-Eidens D., Futreal P.A., Harshman K., Tavtigian S., Liu Q., Cochran C., Bennett L.M., Ding W. et al. |
| Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Barker D.F., Hostikka S.L., Zhou J., Chow L.T., Oliphant A.R., Gerken S.C., Gregory M.C., Skolnick M.H., Atkin C.L., Tryggvason K. Science 248:1224-1227(1990) · Mapped (2) |