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

door Gräsbeck, Ralph, Tanner, Stephan M.
Gepubliceerd in 2011

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

door Overgaard, Ulrik M., Tanner, Stephan M., Birgens, Henrik S.
Gepubliceerd in 2010

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

door Tanner Stephan M, Sturm Amy C, Baack Elizabeth C, Liyanarachchi Sandya, de la Chapelle Albert
Gepubliceerd in 2012-08-01

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

door Tanner, Stephan M, Sturm, Amy C, Baack, Elizabeth C, Liyanarachchi, Sandya, de la Chapelle, Albert
Gepubliceerd in 2012

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

door Siddiqui, Abdul Hafeez, Ansari, Aamir, Beech, Cameron M., Shah, Nidhi P., Tanner, Stephan M., Sarnaik, Sharada A.
Gepubliceerd in 2012

Allele-specific expression of TGFBR1 in colon cancer patients

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

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

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

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

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

Hereditary Intrinsic Factor Deficiency in Chaldeans

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

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

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

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

door 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
Gepubliceerd in 2001

Germline Allele-Specific Expression of DAPK1 in Chronic Lymphocytic Leukemia

door 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
Gepubliceerd in 2013

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

door 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
Gepubliceerd in 2005

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

door 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.
Gepubliceerd in 2009

Heritable polymorphism predisposes to high BAALC expression in acute myeloid leukemia

door 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
Gepubliceerd in 2012

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

door 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
Gepubliceerd in 2004

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

door 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
Gepubliceerd in 2008

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

door 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.
Gepubliceerd in 2005

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

door 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
Gepubliceerd in 2001

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

door 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
Gepubliceerd in 2011