Kliniken & Institute … Institute Institute of Human… Research Publikationen 2010

Publications 2010

Alkhalaf, A., P. Zurbig, et al. (2010). "Multicentric validation of proteomic biomarkers in urine specific for diabetic nephropathy." PLoS One 5(10): e13421.


Andrade, A. C., J. Baron, et al. (2010). "Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndrome." Horm Res Paediatr 73(3): 161-165.


Behnecke, A., K. Hinderhofer, et al. (2010). "Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature." Am J Med Genet A.


Berkel, S., C. R. Marshall, et al. (2010). "Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation." Nat Genet 42(6): 489-491.


Broyl, A., D. Hose, et al. (2010). "Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients." Blood.


Catucci, I., R. Yang, et al. (2010). "Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases." Hum Mutat 31(1): E1052-1057.


Conter, V., C. R. Bartram, et al. (2010). "Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study." Blood 115(16): 3206-3214.


Deane, C. R., D. Goss, et al. (2010). "Extracranial internal carotid arterial disease in children with sickle cell anemia." Haematologica 95(8): 1287-1292.


Durand, C., F. Bangs, et al. (2010). "Enhancer elements upstream of the SHOX gene are active in the developing limb." Eur J Hum Genet 18(5): 527-532.


Endele, S., G. Rosenberger, et al. (2010). "Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes." Nat Genet 42(11): 1021-1026.


Endris, V., K. Hackmann, et al. (2010). "Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia." Am J Med Genet A 152A(11): 2908-2911.


Evers, C., P. Heidemann, et al. (2010). "Pseudoautosomal inheritance of Leri-Weill syndrome: what does it mean?" Clin Genet.


Fletcher, O., N. Johnson, et al. (2010). "Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls." Cancer Epidemiol Biomarkers Prev 19(9): 2143-2151.


Goecke, T. W., A. B. Ekici, et al. (2010). "Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy." Acta Obstet Gynecol Scand 89(1): 7-14.


Gore, F., J. Fawell, et al. (2010). "Too much or too little? A review of the conundrum of selenium." J Water Health 8(3): 405-416.


Hammer, C., P. A. Fasching, et al. (2010). "Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy." Pharmacogenomics 11(7): 943-950.


Heesch, S., I. Bartram, et al. (2011). "Expression of IGFBP7 in acute leukemia is regulated by DNA methylation." Cancer Sci 102(1): 253-259.


Heilig, C. E., H. Loffler, et al. (2010). "Chromosomal instability correlates with poor outcome in patients with myelodysplastic syndromes irrespectively of the cytogenetic risk group." J Cell Mol Med 14(4): 895-902.


Hemminki, K., B. Muller-Myhsok, et al. (2010). "Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients." Int J Cancer 126(12): 2858-2862.


Horn, D., J. Kapeller, et al. (2010). "Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits." Hum Mutat 31(11): E1851-1860.


Koster, I., M. S. Jungwirth, et al. (2010). "xGit2 and xRhoGAP 11A regulate convergent extension and tissue separation in Xenopus gastrulation." Dev Biol 344(1): 26-35.


Moog, U. (2010). "Invited comment." Acta Psychiatr Scand 122(2): 166.


Moog, U. (2010). "Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment." Acta Psychiatr Scand 122(2): 166.


Neben, K., A. Jauch, et al. (2010). "Combining information regarding chromosomal aberrations t(4;14) and del(17p13) with the International Staging System classification allows stratification of myeloma patients undergoing autologous stem cell transplantation." Haematologica 95(7): 1150-1157.


Niesler, B., J. Kapeller, et al. (2010). "5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex." Eur J Gastroenterol Hepatol 22(7): 856-861.


Prasad, R. B., F. J. Hosking, et al. (2010). "Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood." Blood 115(9): 1765-1767.


Puskaric, S., S. Schmitteckert, et al. (2010). "Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart." Hum Mol Genet 19(23): 4625-4633.


Quist, S. R., I. Franke, et al. (2010). "Periungual fibroma (Koenen tumors) as isolated sign of tuberous sclerosis complex with tuberous sclerosis complex 1 germline mutation." J Am Acad Dermatol 62(1): 159-161.


Rauschenberger, K., K. Scholer, et al. (2010). "A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival." EMBO Mol Med 2(2): 51-62.


Schulz, A., C. Fischer, et al. (2010). "Entropy-supported marker selection and Mantel statistics for haplotype sharing analysis." Genet Epidemiol 34(4): 354-363.


Sherborne, A. L., F. J. Hosking, et al. (2010). "Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk." Nat Genet 42(6): 492-494.


Stein, S., M. G. Ott, et al. (2010). "Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease." Nat Med 16(2): 198-204.


Taylor, M. A., R. N. Marshall, et al. (2010). "Dose-response effects of diclazuril against pathogenic species of ovine coccidia and the development of protective immunity." Vet Parasitol.


Tchatchou, S., A. Riedel, et al. (2010). "Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity." Hum Mutat 31(1): 60-66.


Vukicevic, V., A. Jauch, et al. (2010). "Genetic instability and diminished differentiation capacity in long-term cultured mouse neurosphere cells." Mech Ageing Dev 131(2): 124-132.


Walstab, J., C. Hammer, et al. (2010). "RIC-3 exclusively enhances the surface expression of human homomeric 5-hydroxytryptamine type 3A (5-HT3A) receptors despite direct interactions with 5-HT3A, -C, -D, and -E subunits." J Biol Chem 285(35): 26956-26965.


Walstab, J., G. Rappold, et al. (2010). "5-HT(3) receptors: Role in disease and target of drugs." Pharmacol Ther.


Wang, F., Z. Hu, et al. (2010). "A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 (NPAS2) is not associated with breast cancer risk." Breast Cancer Res Treat.


Weinhold, N., J. Moreaux, et al. (2010). "NPM1 is overexpressed in hyperdiploid multiple myeloma due to a gain of chromosome 5 but is not delocalized to the cytoplasm." Genes Chromosomes Cancer 49(4): 333-341.


Yang, R., M. Dick, et al. (2010). "Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk." Breast Cancer Res Treat.


Yang, R., B. Schlehe, et al. (2010). "A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk." Breast Cancer Res Treat 121(3): 693-702.