Juvenile selective vitamin B(12) malabsorption: 50 years after its description – 10 years of genetic testing

Autor Gräsbeck, Ralph, Tanner, Stephan M.
Vydáno 2011

Vitamin B(12) deficiency in a 15-year old boy due to mutations in the intrinsic factor gene

Autor Overgaard, Ulrik M., Tanner, Stephan M., Birgens, Henrik S.
Vydáno 2010

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Autor Tanner Stephan M, Sturm Amy C, Baack Elizabeth C, Liyanarachchi Sandya, de la Chapelle Albert
Vydáno 2012-08-01

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Autor Tanner, Stephan M, Sturm, Amy C, Baack, Elizabeth C, Liyanarachchi, Sandya, de la Chapelle, Albert
Vydáno 2012

Juvenile Cobalamin Deficiency in a 17 Year Old Child with Autonomic Dysfunction and Skin Changes

Autor Siddiqui, Abdul Hafeez, Ansari, Aamir, Beech, Cameron M., Shah, Nidhi P., Tanner, Stephan M., Sarnaik, Sharada A.
Vydáno 2012

Allele-specific expression of TGFBR1 in colon cancer patients

Autor Tomsic, Jerneja, Guda, Kishore, Liyanarachchi, Sandya, Hampel, Heather, Natale, Leanna, Markowitz, Sanford D., Tanner, Stephan M., de la Chapelle, Albert
Vydáno 2010

Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

Autor Ament, Andrea E., Li, Zhongyuan, Sturm, Amy C., Perko, James D., Lawson, Sarah, Masterson, Margaret, Quadros, Edward V., Tanner, Stephan M.
Vydáno 2008

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities

Autor Beech, Cameron M, Liyanarachchi, Sandya, Shah, Nidhi P, Sturm, Amy C, Sadiq, May F, de la Chapelle, Albert, Tanner, Stephan M
Vydáno 2011

Hereditary Intrinsic Factor Deficiency in Chaldeans

Autor Sturm, Amy C., Baack, Elizabeth C., Armstrong, Michael B., Schiff, Deborah, Zia, Ayesha, Savasan, Sureyya, de la Chapelle, Albert, Tanner, Stephan M.
Vydáno 2012

RelA/p65 functions to maintain cellular senescence by regulating genomic stability and DNA repair

Autor Wang, Jingxin, Jacob, Naduparambil K, Ladner, Katherine J, Beg, Amer, Perko, James D, Tanner, Stephan M, Liyanarachchi, Sandya, Fishel, Richard, Guttridge, Denis C
Vydáno 2009

Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics

Autor Virtaneva, Kimmo, Wright, Fred A., Tanner, Stephan M., Yuan, Bo, Lemon, William J., Caligiuri, Michael A., Bloomfield, Clara D., de la Chapelle, Albert, Krahe, Ralf
Vydáno 2001

Germline Allele-Specific Expression of DAPK1 in Chronic Lymphocytic Leukemia

Autor Wei, Quan-Xiang, Claus, Rainer, Hielscher, Thomas, Mertens, Daniel, Raval, Aparna, Oakes, Christopher C., Tanner, Stephan M., de la Chapelle, Albert, Byrd, John C., Stilgenbauer, Stephan, Plass, Christoph
Vydáno 2013

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Autor Tanner, Stephan M., Li, Zhongyuan, Perko, James D., Öner, Cihan, Çetin, Mualla, Altay, Çiğdem, Yurtsever, Zekiye, David, Karen L., Faivre, Laurence, Ismail, Essam A., Gräsbeck, Ralph, de la Chapelle, Albert
Vydáno 2005

Infrequent Detection of Germline Allele-Specific Expression of TGFBR1 in Lymphoblasts and Tissues of Colon Cancer Patients

Autor Guda, Kishore, Natale, Leanna, Lutterbaugh, James, Wiesner, Georgia L., Lewis, Susan, Tanner, Stephan M., Tomsic, Jerneja, Valle, Laura, de la Chapelle, Albert, Elston, Robert C., Willis, Joseph, Markowitz, Sanford D.
Vydáno 2009

Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia

Autor Eisfeld, Ann-Kathrin, Marcucci, Guido, Liyanarachchi, Sandya, Döhner, Konstanze, Schwind, Sebastian, Maharry, Kati, Leffel, Benjamin, Döhner, Hartmut, Radmacher, Michael D., Bloomfield, Clara D., Tanner, Stephan M., de la Chapelle, Albert
Vydáno 2012

Acute myeloid leukemia with complex karyotypes and abnormal chromosome 21: Amplification discloses overexpression of APP, ETS2, and ERG genes

Autor Baldus, Claudia D., Liyanarachchi, Sandya, Mrózek, Krzysztof, Auer, Herbert, Tanner, Stephan M., Guimond, Martin, Ruppert, Amy S., Mohamed, Nehad, Davuluri, Ramana V., Caligiuri, Michael A., Bloomfield, Clara D., de la Chapelle, Albert
Vydáno 2004

Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer

Autor Valle, Laura, Serena-Acedo, Tarsicio, Liyanarachchi, Sandya, Hampel, Heather, Comeras, Ilene, Li, Zhongyuan, Zeng, Qinghua, Zhang, Hong-Tao, Pennison, Michael J., Sadim, Maureen, Pasche, Boris, Tanner, Stephan M., de la Chapelle, Albert
Vydáno 2008

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B(12)) absorption in vivo

Autor He, Qianchuan, Madsen, Mette, Kilkenney, Adam, Gregory, Brittany, Christensen, Erik I., Vorum, Henrik, Højrup, Peter, Schäffer, Alejandro A., Kirkness, Ewen F., Tanner, Stephan M., de la Chapelle, Albert, Giger, Urs, Moestrup, Søren K., Fyfe, John C.
Vydáno 2005

BAALC, the human member of a novel mammalian neuroectoderm gene lineage, is implicated in hematopoiesis and acute leukemia

Autor Tanner, Stephan M., Austin, Jamie L., Leone, Gustavo, Rush, Laura J., Plass, Christoph, Heinonen, Kristiina, Mrózek, Krzysztof, Sill, Heinz, Knuutila, Sakari, Kolitz, Jonathan E., Archer, Kellie J., Caligiuri, Michael A., Bloomfield, Clara D., de la Chapelle, Albert
Vydáno 2001

Variants in the Netrin-1 Receptor UNC5C Prevent Apoptosis and Increase Risk for Familial Colorectal Cancer

Autor Coissieux, Marie-May, Tomsic, Jerneja, Castets, Marie, Hampel, Heather, Tuupanen, Sari, Andrieu, Nadine, Comeras, Ilene, Drouet, Youenn, Lasset, Christine, Liyanarachchi, Sandya, Mazelin, Laetitia, Puisieux, Alain, Saurin, Jean-Christophe, Scoazec, Jean-Yves, Wang, Qing, Aaltonen, Lauri, Tanner, Stephan M, de la Chapelle, Albert, Bernet, Agnès, Mehlen, Patrick
Vydáno 2011