Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2007

F

Fisher, Sheila A. and Rivera, Andrea and Fritsche, Lars G. and Babadjanova, Gulja and Petrov, Sergey and Weber, Bernhard H. F. (2007) Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. BRITISH JOURNAL OF OPHTHALMOLOGY, 91 (5). pp. 576-578. ISSN 0007-1161, 1468-2079

Fisher, Sheila A. and Rivera, Andrea and Fritsche, Lars G. and Keilhauer, Claudia N. and Lichtner, Peter and Meitinger, Thomas and Rudolph, Guenther and Weber, Bernhard H. F. (2007) Case-control genetic association study of fibullin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). HUMAN MUTATION, 28 (4). pp. 406-413. ISSN 1059-7794, 1098-1004

G

Gehrig, Andrea and Langmann, Thomas and Horling, Franziska and Janssen, Andreas and Bonin, Michael and Walter, Michael and Poths, Sven and Weber, Bernhard H. F. (2007) Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 48 (2). pp. 891-900. ISSN 0146-0404, 1552-5783

H

Hehr, Ure and Bauer, Peter and Winner, Beate and Schule, Rebecca and Olmez, Akguen and Koehler, Wolfgang and Uyanik, Goelchan and Engel, Anna and Lenz, Damela and Seibel, Andrea and Hehr, Andreas and Ploetz, Sonja and Gamez, Josep and Rolfs, Arndt and Weis, Joachim and Ringer, Thomas M. and Bonin, Michael and Schuierer, Gerhard and Marienhagen, Joerg and Bogdahn, Ulrich and Weber, Bernhard H. F. and Topaloglu, Haluk and Schols, Ludger and Riess, Olaf and Winkler, Juergen (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. ANNALS OF NEUROLOGY, 62 (6). pp. 656-665. ISSN 0364-5134

Hehr, Ute and Uyanik, Goekhan and Gross, Claudia and Walter, Maggie C. and Bohring, Axel and Cohen, Monika and Oehl-Jaschkowitz, Barbara and Bird, Lynne M. and Shamdeen, Ghiat M. and Bogdahn, Ulrich and Schuierer, Gerhard and Topaloglu, Haluk and Aigner, Ludwig and Lochmueller, Hanns and Winkler, Juergen (2007) Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. NEUROGENETICS, 8 (4). pp. 279-288. ISSN 1364-6745, 1364-6753

L

Langmann, Thomas (2007) Microglia activation in retinal degeneration. JOURNAL OF LEUKOCYTE BIOLOGY, 81 (6). pp. 1345-1351. ISSN 0741-5400, 1938-3673

Lommatzsch, Albrecht and Hermans, Pia and Weber, Bernhard and Pauleikhoff, Daniel (2007) Complement factor H variant Y402H and basal laminar deposits in exudative age-related macular degeneration. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 245 (11). pp. 1713-1716. ISSN 0721-832X

M

Manvelyan, M. and Schreyer, I. and Hoels-Herpertz, I. and Koehler, S. and Niemann, R. and Hehr, U. and Belitz, B. and Bartels, I. and Goetz, J. and Huhle, D. and Kossakiewicz, M. and Tittelbach, H. and Neubauer, S. and Polityko, A. and Mazauric, M-L. and Wegner, R. and Stumm, M. and Kuepferling, P. and Suess, F. and Kunze, H. and Weise, A. and Liehr, T. and Mrasek, K. (2007) Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 19 (6). pp. 855-864. ISSN 1107-3756, 1791-244X

Milenkovic, Vladimir M. and Rivera, Andrea and Horling, Franziska and Weber, Bernhard H. F. (2007) Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. JOURNAL OF BIOLOGICAL CHEMISTRY, 282 (2). pp. 1313-1321. ISSN 0021-9258, 1083-351X

R

Reinhard, Jens and Messias, Andre and Dietz, Klaus and MacKeben, Manfred and Lakmann, Raimund and Scholl, Hendrik P. N. and Apfelstedt-Sylla, Eckart and Weber, Bernhard H. F. and Seeliger, Mathias W. and Zrenner, Eberhart and Trauzettel-Klosinski, Susanne (2007) Quantifying fixation in patients with Stargardt disease. VISION RESEARCH, 47 (15). pp. 2076-2085. ISSN 0042-6989

Roesch, Alexander and Becker, Bernd and Bentink, Stefan and Spang, Rainer and Vogl, Annegret and Hagen, Ilja and Landthaler, Michael and Vogt, Thomas (2007) Ataxia telangiectasia-mutated gene is a possible biomarker for discrimination of infiltrative deep penetrating Nevi and metastatic vertical growth phase melanoma. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 16 (11). pp. 2486-2490. ISSN 1055-9965

S

Scholl, Hendrik P. N. and Fleckenstein, Monika and Charbel Issa, Peter and Keilhauer, Claudia and Holz, Frank G. and Weber, Bernhard H. F. (2007) An update on the genetics of age-related macular degeneration. MOLECULAR VISION, 13 (20-24). pp. 196-205. ISSN 1090-0535

Schroeder, Josef and Hofstaedter, Ferdinand and Bals-Pratsch, Monika and Paulmann, Bernd and Seifert, Dagmar and Seifert, Berrid (2007) Human spermatid centriole abnormalities are causative for intracytoplasmic sperm injection (ICSI) fertilization failure. VIRCHOWS ARCHIV, 451 (2). p. 133. ISSN 0945-6317

Skerka, Christine and Lauer, Nadine and Hartmann, Andrea and Heinen, Stefan and Schlotzer-Schrehardt, Ursula and Weinberger, Andreas W. A. and Keilhauer, Claudia and Suehnel, Juergen and Weber, Bernhard H. F. and Zipfel, Peter F. (2007) Mutation in factor H (Y402H) associated with age related macular degeneration (AMD) results in reduced binding activities. MOLECULAR IMMUNOLOGY, 44 (1-3). pp. 241-242. ISSN 0161-5890

Skerka, Christine and Lauer, Nadine and Keilhauer, Claudia N. and Fritsche, Lars and Weber, Bernhard H. F. and Zipfel, Peter F. (2007) Defective complement control of factor H (Y402H) and FHL1 in age-related macular degeneration. MOLECULAR IMMUNOLOGY, 44 (16). p. 3914. ISSN 0161-5890

Skerka, Christine and Lauer, Nadine and Weinberger, Andreas A. W. A. and Keilhauer, Claudia N. and Suehnel, Juergen and Smith, Richard and Schloetzer-Schrehardt, Ursula and Fritsche, Lars and Heinen, Stefan and Hartmann, Andrea and Weber, Bernhard H. F. and Zipfel, Peter F. (2007) Defective complement control of Factor H (Y402H) and FHL-1 in age-related macular degeneration. MOLECULAR IMMUNOLOGY, 44 (13). pp. 3398-3406. ISSN 0161-5890

Stojic, Jelena and Stoehr, Heidi and Weber, Bernhard H. F. (2007) Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression. BMC MOLECULAR BIOLOGY, 8: 42. ISSN 1471-2199

U

Uyanik, G. and Hehr, U. and Winkler, J. (2007) Genetics of cortical malformations. EPILEPSIA, 48 (Suppl3). pp. 6-7. ISSN 0013-9580

V

Vaclavicek, Annika and Bermejo, Justo Lorenzo and Schmutzler, Rita K. and Sutter, Christian and Wappenschmidt, Barbara and Meindl, Alfons and Kiechle, Marion and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Burwinkel, Barbara and Bartram, Claus R. and Hemminki, Kari and Forsti, Asta (2007) Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer. ENDOCRINE-RELATED CANCER, 14 (2). pp. 267-277. ISSN 1351-0088

W

Weigelt, Karin and Ernst, Wolfgang and Walczak, Yana and Ebert, Stefanie and Loenhardt, Thomas and Klug, Maja and Rehli, Michael and Weber, Bernhard H. F. and Langmann, Thomas (2007) Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation. JOURNAL OF LEUKOCYTE BIOLOGY, 82 (6). pp. 1564-1574. ISSN 0741-5400

Wieczorek, Dagmar and Shaw-Smith, Charles and Kohlhase, Juergen and Schmitt, Wolfgang and Buiting, Karin and Coffey, Alison and Howard, Eleanor and Hehr, Ute and Gillessen-Kaesbach, Gabriele (2007) Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation - New MCA/MR syndrome in two affected sibs and a mildly affected mother? AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 143A (11). pp. 1135-1142. ISSN 1552-4825

Wild, P. J. and Schimanski, S. and Treeck, O. and Ortmann, O. and Langmann, T. and Rudolph, C. and Sigruener, A. and Schalke, M. and Schmitz, G. and Hartmann, A. (2007) The ATP-binding cassette transporter ABCA3 is expressed in mammary gland epithelial cells and may constitute a novel prognostic marker for breast cancer. PATHOLOGY RESEARCH AND PRACTICE, 203 (5). p. 306. ISSN 0344-0338

Wirtenberger, Michael and Schmutzhard, Julia and Hemminki, Kari and Meindl, Alfons and Sutter, Christian and Schmutzler, Rita K. and Wappenschmidt, Barbara and Kiechle, Marion and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Bartram, Claus R. and Burwinkel, Barbara (2007) The functional genetic variant Ile646Val located in the kinase binding domain of the A-kinase anchoring protein 10 is associated with familial breast cancer. CARCINOGENESIS, 28 (2). pp. 423-426. ISSN 0143-3334

Y

Yis, Uluc and Uyanik, Gokhan and Kurul, Semra and Dirik, Eray and Ozer, Erdener and Gross, Claudia and Hehr, Ute (2007) A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 11 (1). pp. 46-49. ISSN 1090-3798, 1532-2130