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

Por Gräsbeck, Ralph, Tanner, Stephan M.
Publicado em 2011

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

Por Overgaard, Ulrik M., Tanner, Stephan M., Birgens, Henrik S.
Publicado em 2010

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

Por Tanner Stephan M, Sturm Amy C, Baack Elizabeth C, Liyanarachchi Sandya, de la Chapelle Albert
Publicado em 2012-08-01

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

Por Tanner, Stephan M, Sturm, Amy C, Baack, Elizabeth C, Liyanarachchi, Sandya, de la Chapelle, Albert
Publicado em 2012

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

Por Siddiqui, Abdul Hafeez, Ansari, Aamir, Beech, Cameron M., Shah, Nidhi P., Tanner, Stephan M., Sarnaik, Sharada A.
Publicado em 2012

Allele-specific expression of TGFBR1 in colon cancer patients

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

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

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

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

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

Hereditary Intrinsic Factor Deficiency in Chaldeans

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

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

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

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

Por 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
Publicado em 2001

Germline Allele-Specific Expression of DAPK1 in Chronic Lymphocytic Leukemia

Por 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
Publicado em 2013

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

Por 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
Publicado em 2005

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

Por 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.
Publicado em 2009

Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia

Por 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
Publicado em 2012

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

Por 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
Publicado em 2004

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

Por 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
Publicado em 2008

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

Por 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.
Publicado em 2005

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

Por 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
Publicado em 2001

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

Por 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
Publicado em 2011