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11 results for author:"Swensen J." in Literature citations

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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Rope A.F., Wang K., Evjenth R., Xing J., Johnston J.J., Swensen J.J., Johnson W.E., Moore B., Huff C.D., Bird L.M. et al.

Am. J. Hum. Genet. 89:28-43(2011) · UniProtKB (1) · Mapped (5)

Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.

Swensen J.J., Keyser J., Coffin C.M., Biegel J.A., Viskochil D.H., Williams M.S.

J. Med. Genet. 46:68-72(2009) · Mapped (8)

Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer.

Camp N.J., Swensen J., Horne B.D., Farnham J.M., Thomas A., Cannon-Albright L.A., Tavtigian S.V.

Genet. Epidemiol. 28:232-243(2005) · Mapped (7)

Association of a Trp16Ser variation in the gonadotropin releasing hormone signal peptide with bone mineral density, revealed by SNP-dependent PCR typing.

Iwasaki H., Emi M., Ezura Y., Ishida R., Kajita M., Kodaira M., Yoshida H., Suzuki T., Hosoi T., Inoue S. et al.

Bone 32:185-190(2003) · Mapped (1)

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.

Nat. Genet. 27:172-180(2001) · UniProtKB (6) · Mapped (12)

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)

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)

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)

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.

Science 266:66-71(1994) · UniProtKB (4) · Mapped (5)

The human prohibitin gene located on chromosome 17q21 is mutated in sporadic breast cancer.

Sato T., Saito H., Swensen J., Olifant A., Wood C., Danner D., Sakamoto T., Takita K., Kasumi F., Miki Y. et al.

Cancer Res. 52:1643-1646(1992) · UniProtKB (1) · Mapped (2)

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