Publications by authors named "Stephan M Tanner"

37Publications

Hereditary intrinsic factor deficiency in chaldeans.

JIMD Rep 2013 18;7:13-8. Epub 2012 Mar 18.

Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, BRT 804, 460W. 12th Ave, Columbus, OH, 43210, USA.

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http://dx.doi.org/10.1007/8904_2012_133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575053PMC
February 2013

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

Orphanet J Rare Dis 2012 Aug 28;7:56. Epub 2012 Aug 28.

Human Cancer Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1186/1750-1172-7-56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3462684PMC
August 2012

Familial peripheral keratopathy without PAX6 mutation.

Cornea 2012 Feb;31(2):130-3

Havener Eye Institute, Department of Ophthalmology, The Ohio State University, Columbus, OH 43212, USA.

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http://dx.doi.org/10.1097/ICO.0b013e3182222779DOI Listing
February 2012

Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes.

J Pediatr Hematol Oncol 2012 Mar;34(2):140-2

Department of Pediatrics, University of South Alabama College of Medicine, Mobile, AL, USA.

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http://dx.doi.org/10.1097/MPH.0b013e3182288249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302209PMC
March 2012

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

Orphanet J Rare Dis 2011 Nov 13;6:74. Epub 2011 Nov 13.

Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1186/1750-1172-6-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226546PMC
November 2011

[Homozygous mutation in the intrinsic factor gene in a child with severe vitamin B12 deficiency].

Ugeskr Laeger 2011 Aug;173(34):2047-8

Børneafdelingen, Aarhus Universitetshospital, Aalborg Sygehus, 9000 Aalborg, Denmark.

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August 2011

Juvenile selective vitamin B₁₂ malabsorption: 50 years after its description-10 years of genetic testing.

Pediatr Res 2011 Sep;70(3):222-8

Minerva Foundation Institute for Medical Research, Biomedicum Helsinki 2U, Helsinki 00290, Finland.

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http://dx.doi.org/10.1203/PDR.0b013e3182242124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152595PMC
September 2011

Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes.

Br J Haematol 2007 Dec 24;139(5):744-52. Epub 2007 Oct 24.

Department of Molecular Virology, Immunology, and Medical Genetics, Human Cancer Genetics Program, the Comprehensive Cancer Center at the Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1111/j.1365-2141.2007.06875.xDOI Listing
December 2007

Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN.

Eur J Pediatr 2008 Jun 1;167(6):671-5. Epub 2007 Aug 1.

Department of Paediatrics, University Hospital Carl Gustav Carus at the Technical University Dresden, Dresden, Germany.

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http://link.springer.com/10.1007/s00431-007-0571-3
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http://dx.doi.org/10.1007/s00431-007-0571-3DOI Listing
June 2008

Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function.

J Pediatr Hematol Oncol 2006 Nov;28(11):715-9

Pediatric Immunology Clinic, Soroka Medical Center and the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://dx.doi.org/10.1097/01.mph.0000243656.25938.7bDOI Listing
November 2006

Differential gene expression in patients genetically predisposed to pancreatic cancer.

J Surg Res 2006 Oct 30;135(2):317-22. Epub 2006 Jun 30.

Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, The Ohio State University, Columbus, Ohio, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00224804060013
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http://dx.doi.org/10.1016/j.jss.2006.03.022DOI Listing
October 2006

Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.

Saudi Med J 2005 Jul;26(7):1061-4

Department of Biochemistry and Medical Laboratory Science, Jordan University of Science and Technology, Irbid, Jordan.

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July 2005

Baalc, a marker of mesoderm and muscle.

Gene Expr Patterns 2005 Apr;5(4):463-73

Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, 420 West 12th Avenue, TMRF 646, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1016/j.modgep.2004.12.008DOI Listing
April 2005

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

Proc Natl Acad Sci U S A 2005 Mar 28;102(11):4130-3. Epub 2005 Feb 28.

Human Cancer Genetics Program, Comprehensive Cancer Center, Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1073/pnas.0500517102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC554821PMC
March 2005

BAALC, a novel marker of human hematopoietic progenitor cells.

Exp Hematol 2003 Nov;31(11):1051-6

Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA.

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November 2003

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless.

Blood 2004 Mar 23;103(5):1573-9. Epub 2003 Oct 23.

Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, USA.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2003-08-28
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http://dx.doi.org/10.1182/blood-2003-08-2852DOI Listing
March 2004

Molecular cytogenetic characterization of the KG-1 and KG-1a acute myeloid leukemia cell lines by use of spectral karyotyping and fluorescence in situ hybridization.

Genes Chromosomes Cancer 2003 Nov;38(3):249-52

Division of Hematology and Oncology, and the Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/gcc.10274DOI Listing
November 2003

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

Nat Genet 2003 Mar 18;33(3):426-9. Epub 2003 Feb 18.

Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA.

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http://dx.doi.org/10.1038/ng1098DOI Listing
March 2003