Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2006

B

Baric, I. and Rados, M. and Fumic, K. and Sarnavka, V and Strahl, S. and Willer, T. and Gross, C. and Hehr, U. and Cuk, M. and Judas, M. (2006) Cortical neuronal morphology and MR spectroscopy in Walker-Warburg syndrome caused by novel POMT1 mutation. JOURNAL OF INHERITED METABOLIC DISEASE, 29 (Suppl1). p. 142. ISSN 0141-8955

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Gehrig, A. and Janssen, A. and Horling, F. and Grimm, C. and Weber, Bernhard H. F. (2006) The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse. CYTOGENETIC AND GENOME RESEARCH, 115 (1). pp. 35-44. ISSN 1424-8581, 1424-859X

H

Hehr, Ute and Hehr, A. and Uyanik, G. and Phelan, E. and Winkler, J. and Reardon, W. (2006) A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. JOURNAL OF MEDICAL GENETICS, 43 (6). pp. 541-544. ISSN 0022-2593

K

Keilhauer, Claudia N. and Meigen, Thomas and Stoehr, Heidi and Weber, Bernhard H. F. (2006) Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. OPHTHALMIC GENETICS, 27 (4). pp. 139-144. ISSN 1381-6810

Keilhauer, Claudia N. and Meigen, Thomas and Weber, Bernhard H. F. (2006) Clinical findings in a multigeneration familly with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. ARCHIVES OF OPHTHALMOLOGY, 124 (7). pp. 1020-1027. ISSN 0003-9950

M

Metzger, Silke and Bauer, Peter and Tomiuk, Juergen and Laccone, Franco and Didonato, Stefano and Gellera, Cinzia and Soliveri, Paolo and Lange, Herwig W. and Weirich-Schwaiger, Helga and Wenning, Gregor K. and Melegh, Bela and Havasi, Victoria and Baliko, Laszlo and Wieczorek, Stefan and Arning, Larissa and Zaremba, Jacek and Sulek, Anna and Hoffman-Zacharska, Dorota and Basak, A. Nazli and Ersoy, Nagehan and Zidovska, Jana and Kebrdlova, Vera and Pandolfo, Massimo and Ribai, Pascale and Kadasi, Ludovit and Kvasnicova, Marta and Weber, Bernhard H. F. and Kreuz, Friedmar and Dose, Matthias and Stuhrmann, Manfred and Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. NEUROGENETICS, 7 (1). pp. 27-30. ISSN 1364-6745, 1364-6753

O

Oelmez, Akguen and Cirak, Sebahattin and Uyanik, Goekhan and Gross, Claudia and Voit, Thomas and Hehr, Ute and Winkler, Juergen and Toplaoglu, Haluk (2006) Clinical and genetic features of five families with infantile-onset ascending Hereditary Spastic Paralysis. NEUROMUSCULAR DISORDERS, 16 (Suppl1). S63-S64. ISSN 0960-8966

Oelmez, Akguen and Uyanik, Goekhan and Gross, Claudia and Cirak, Sebahattin and Topcu, Meral and Elibol, Buelent and Anlar, Banu and Winner, Beate and Hehr, Ute and Winkler, Juergen and Topaloglu, Haluk (2006) Clinical and genetic features of 32 families with autosomal recessive Hereditary Spastic Paraplegias. NEUROMUSCULAR DISORDERS, 16 (Suppl1). S62-S63. ISSN 0960-8966

Oelmez, Akguen and Uyanik, Goekhan and Oezguel, R. Koeksal and Gross, Claudia and Cirak, Sebahattin and Elibol, Buelent and Anlar, Banu and Winner, Beate and Hehr, Ute and Topaloglu, Haluk and Winkler, Juergen (2006) Clinical and genetic characterization of SPG11: Hereditary Spastic Paraplegia with thin corpus callosum. NEUROMUSCULAR DISORDERS, 16 (Suppl1). S63. ISSN 0960-8966

Olmez, A. and Uyanik, G. and Ozgul, R. K. and Gross, C. and Cirak, S. and Elibol, B. and Anlar, B. and Winner, B. and Hehr, U. and Topaloglu, H. and Winkler, Juergen (2006) Further clinical and genetic characterization of SPG11: Hereditary spastic paraplegia with thin corpus callosum. NEUROPEDIATRICS, 37 (2). pp. 59-66. ISSN 0174-304X

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Preisler-Adams, Sabine and Schoenbuchner, Ines and Fiebig, Britta and Welling, Brigitte and Dworniczak, Bernd and Weber, Bernhard H. F. (2006) Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. CANCER GENETICS AND CYTOGENETICS, 168 (1). pp. 44-49. ISSN 0165-4608

S

Schara, U. and Kress, W. and Vorgerd, M. and Gross, C. and Winkler, J. and Hehr, U. and Mortier, W. and Uyanik, G. (2006) Phenotype and muscle biopsy findings in the first German patient with limb-girdle muscular dystrophy 2K - Important differential diagnosis of Becker muscular dystrophy. NEUROMUSCULAR DISORDERS, 16 (9-10). p. 680. ISSN 0960-8966

U

Uyanik, G and Elcioglu, N and Penzien, J and Gross, C and Yilmaz, Y and Olmez, A and Demir, E and Wahl, D and Scheglmann, K and Winner, B and Bogdahn, Ulrich and Topaloglu, H and Hehr, Ute and Winkler, Juergen (2006) Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. NEUROLOGY, 66 (7). pp. 1044-1048. ISSN 0028-3878, 1526-632X

Uyanik, Goekhan and Kress, Wolfram and Mortier, Wilhelm and Gross, Claudia and Winkler, Juergen and Hehr, Ute and Schara, Ulrike (2006) A German patient with limb-girdle muscular dystrophy 2K caused by compound heterozygous POMT1 mutations. NEUROMUSCULAR DISORDERS, 16 (Suppl1). S77. ISSN 0960-8966

W

Winner, Beate and Gross, Claudia and Uyanik, Goekhan and Schulte-Mattler, Wilhelm and Luerding, Ralf and Marienhagen, Joerg and Bogdahn, Ulrich and Windpassinger, Christian and Hehr, Ute and Winkler, Juergen (2006) Thin corpus callosum and amyotrophy in spastic paraplegia - Case report and review of literature. CLINICAL NEUROLOGY AND NEUROSURGERY, 108 (7). pp. 692-698. ISSN 0303-8467

Wirtenberger, Michael and Frank, Bernd and Hemminki, Kari and Klaes, Ruediger and Schmutzler, Rita K. and Wappenschmidt, Barbara and Meindl, Alfons and Kiechle, Marion and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Bartram, Claus R. and Burwinkel, Barbara (2006) Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. CARCINOGENESIS, 27 (8). pp. 1655-1660. ISSN 0143-3334

Wirtenberger, Michael and Tchatchou, Sandrine and Hemminki, Kari and Schmutzhard, Julia and Sutter, Christian and Schmutzler, Rita K. and Meindl, Alfons and Wappenschmidt, Barbara and Kiechle, Marion and Arnold, Norbert and Weber, Bernhard H. F. and Niederacher, Dieter and Bartram, Claus R. and Burwinkel, Barbara (2006) Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer. CARCINOGENESIS, 27 (11). pp. 2201-2208. ISSN 0143-3334