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Literature citations Results

Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood.

Prasad R.B., Hosking F.J., Vijayakrishnan J., Papaemmanuil E., Koehler R., Greaves M., Sheridan E., Gast A., Kinsey S.E., Lightfoot T. et al.

Blood 115:1765-1767(2010) · UniProtKB (1) · Mapped (2)

Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.

Migliorini G., Fiege B., Hosking F.J., Ma Y., Kumar R., Sherborne A.L., da Silva Filho M.I., Vijayakrishnan J., Koehler R., Thomsen H. et al.

Blood 122:3298-3307(2013) · Mapped (4)

Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.

Pannicke U., Tuchschmid P., Friedrich W., Bartram C.R., Schwarz K.

Hum. Genet. 98:706-709(1996) · UniProtKB (1)

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

Meyer P., Voigtlaender T., Bartram C.R., Klaes R.

Hum. Mutat. 22:259-259(2003) · UniProtKB (2) · Mapped (124)

Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study.

Burwinkel B., Shanmugam K.S., Hemminki K., Meindl A., Schmutzler R.K., Sutter C., Wappenschmidt B., Kiechle M., Bartram C.R., Frank B.

BMC Cancer 6:268-268(2006) · Mapped (26)

Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia.

Stanulla M., Schaeffeler E., Flohr T., Cario G., Schrauder A., Zimmermann M., Welte K., Ludwig W.D., Bartram C.R., Zanger U.M. et al.

JAMA 293:1485-1489(2005) · Mapped (3)

The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk.

Frank B., Hemminki K., Wirtenberger M., Bermejo J.L., Bugert P., Klaes R., Schmutzler R.K., Wappenschmidt B., Bartram C.R., Burwinkel B.

Carcinogenesis 26:643-647(2005) · Mapped (13)

The murine ufo receptor: molecular cloning, chromosomal localization and in situ expression analysis.

Faust M., Ebensperger C., Schulz A.S., Schleithoff L., Hameister H., Bartram C.R., Janssen J.W.G.

Oncogene 7:1287-1293(1992) · UniProtKB (1) · Mapped (4)

The genomic structure of the human UFO receptor.

Schulz A.S., Schleithoff L., Faust M., Bartram C.R., Janssen J.W.

Oncogene 8:509-513(1993) · UniProtKB (1)

The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer.

Wirtenberger M., Schmutzhard J., Hemminki K., Meindl A., Sutter C., Schmutzler R.K., Wappenschmidt B., Kiechle M., Arnold N., Weber B.H. et al.

Carcinogenesis 28:423-426(2007) · Mapped (14)

The association between breast cancer and S100P methylation in peripheral blood by multicenter case-control studies.

Yang R., Stocker S., Schott S., Heil J., Marme F., Cuk K., Chen B., Golatta M., Zhou Y., Sutter C. et al.

Carcinogenesis 38:312-320(2017) · Mapped (1)

Rearrangement and expression of myeov and hst in NIH/3T3 transfectants: a caveat for the interpretation of DNA transfection analyses.

Brecht M., Steenvoorden A.C., Luf S., Bartram C.R., Janssen J.W.

Oncol. Rep. 17:1127-1131(2007) · Mapped (5)

RAG mutations in human B cell-negative SCID.

Schwarz K., Gauss G.H., Ludwig L., Pannicke U., Li Z., Linder D., Friedrich W., Seger R.A., Hansen-Hagge T.E., Desiderio S. et al.

Science 274:97-99(1996) · UniProtKB (2) · Mapped (7)

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.

German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC)
Engel C., Rhiem K., Hahnen E., Loibl S., Weber K.E., Seiler S., Zachariae S., Hauke J., Wappenschmidt B., Waha A. et al.

BMC Cancer 18:265-265(2018) · Mapped (125)

Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer.

Vaclavicek A., Bermejo J.L., Schmutzler R.K., Sutter C., Wappenschmidt B., Meindl A., Kiechle M., Arnold N., Weber B.H., Niederacher D. et al.

Endocr. Relat. Cancer 14:267-277(2007) · Mapped (22)

Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk.

Yang R., Chen B., Hemminki K., Wappenschmidt B., Engel C., Sutter C., Ditsch N., Weber B.H., Niederacher D., Arnold N. et al.

Breast Cancer Res. Treat. 118:407-413(2009) · Mapped (125)

Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22.

Groffen J., Stephenson J.R., Heisterkamp N., de Klein A., Bartram C.R., Grosveld G.

Cell 36:93-99(1984) · UniProtKB (3)

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk.

Hartmaier R.J., Tchatchou S., Richter A.S., Wang J., McGuire S.E., Skaar T.C., Rae J.M., Hemminki K., Sutter C., Ditsch N. et al.

BMC Cancer 9:438-438(2009) · Mapped (34)

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

GENICA Consortium
Ahmed S., Thomas G., Ghoussaini M., Healey C.S., Humphreys M.K., Platte R., Morrison J., Maranian M., Pooley K.A., Luben R. et al.

Nat. Genet. 41:585-590(2009) · Mapped (8)

MYEOV, a gene at 11q13, is coamplified with CCND1, but epigenetically inactivated in a subset of esophageal squamous cell carcinomas.

Janssen J.W., Imoto I., Inoue J., Shimada Y., Ueda M., Imamura M., Bartram C.R., Inazawa J.

J. Hum. Genet. 47:460-464(2002) · Mapped (4)

Mutations in ROGDI cause Kohlschutter-Tonz syndrome.

Schossig A., Wolf N.I., Fischer C., Fischer M., Stocker G., Pabinger S., Dander A., Steiner B., Tonz O., Kotzot D. et al.

Am. J. Hum. Genet. 90:701-707(2012) · UniProtKB (1) · Mapped (3)

Molecular diagnosis of type 1c glycogen storage disease.

Janecke A.R., Bosshard N.U., Mayatepek E., Schulze A., Gitzelmann R., Burchell A., Bartram C.R., Janssen B.

Hum. Genet. 104:275-277(1999) · UniProtKB (1)

Molecular and clinical characterization of an in frame deletion of uncertain clinical significance in the BRCA2 gene.

Rath M.G., Fathali-Zadeh F., Langheinz A., Tchatchou S., Voigtlander T., Heil J., Golatta M., Schott S., Drasseck T., Behnecke A. et al.

Breast Cancer Res. Treat. 133:725-734(2012) · Mapped (125)

Molecular analysis of the secretory phospholipase A2 gene, a candidate of Mom1 gene, in neuroblastomas.

Kawamata N., Seriu T., Bartram C.R., Koeffler H.P.

Cancer Lett. 111:71-75(1997) · Mapped (3)

Methylation analysis of asparagine synthetase gene in acute lymphoblastic leukemia cells.

Akagi T., Yin D., Kawamata N., Bartram C.R., Hofmann W.K., Wolf I., Miller C.W., Koeffler H.P.

Leukemia 20:1303-1306(2006) · Mapped (2)

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