Search Results - "Thamm, B."

Gonadoblastomas in 5 patients with 46,XY gonadal dysgenesis by Hoepffner, W, Horn, L-C, Simon, E, Sauerbrei, G, Schröder, H, Thamm-Mücke, B, Bennek, J, Kiess, W

“…We describe five patients with 46,XY gonadal dysgenesis who developed gonadoblastomas, dysgerminomas, a mature teratoma, and a testicular intraepithelial…”
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Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family by Rueffert, H., Olthoff, D., Deutrich, C., Thamm, B., Froster, U.G.

“…The determination of susceptibility to malignant hyperthermia (MH) by genetic investigation is a controversial issue because of the genetic heterogeneity of…”
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Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome by Krause, A, Sinnecker, G H G, Hiort, O, Thamm, B, Hoepffner, W

“…The sex hormone-binding globulin (SHBG) androgen sensitivity test has been used as a simple method to assess androgen receptor function in vivo. After a short…”
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Instability in the normal CTG repeat range at the myotonic dystrophy locus by Meiner, A, Thamm, B, Strenge, S, Froster, U

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The p53 status in juvenile chronic arthritis and rheumatoid arthritis by Taubert, H., Thamm, B., Meye, A., Bartel, F., Rost, A.‐K., Heidenreich, D., John, V., Brandt, J., Bache, M., Würl, P., Schmidt, H., Riemann, D.

“…The aim of this study was to investigate the p53 status in two autoimmune diseases; juvenile chronic arthritis (JCA) and rheumatoid arthritis (RA). In a…”
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ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN by Tzschach, A., Thamm, B., Imthurn, B., Weber, W., Alexander, H., Glander, H.-J., Froster, U.

“…Microdeletions of the long arm of the Y chromosome (Yq) were described in men with idiopathic azoo- or oligozoospermia and seem to cause impairment of…”
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Cystic fibrosis: a cause of reduced birth weight? by Müller, A E, Thamm, B, Lietz, T, Handrick, W, Walter, S

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Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population by Meindl, A

“…The main focus of this German‐wide multi‐center study was to establish a BRCA1/2 mutation profile and to determine family types with high frequencies of…”
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Späte Diagnose einer myotonen Dystrophie Curschmann-Steinert bei einer Patientin mit Dilatativer Kardiomyopathie und ihrem Sohn by Gunkel, O, Reichenbach, H, Thamm, B, Wetzel, U, Bratanow, S, Kirchhof, M, Lauer, B, Froster, U, Schuler, G

“…ZusammenfassungEine 41-jährige Patientin stellte sich mit Ruhedyspnoe und geschwollenen Unterschenkeln in der Notaufnahme unseres Zentrums vor. Sie berichtet…”
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In-vitro-Kontrakturtest und Gentypisierung in der Maligne Hyperthermie-Diagnostik Ein Beispiel für die sinnvolle Ergänzung beider Methoden by RÜFFERT, H, OLTHOFF, D, DEUTRICH, C, THAMM, B, FROSTER, U

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Homozygous and heterozygous Arg614Cys mutations (1840-->T) in the ryanodyne receptor gene co-segregate with malignant hyperthermia susceptibility in a German family by Rueffert, H, Olthoff, D, Deutrich, C, Thamm, B, Froster, U G

“…The determination of susceptibility to malignant hyperthermia (MH) by genetic investigation is a controversial issue because of the genetic heterogeneity of…”
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Molecular and immunohistochemical p53 status in liposarcoma and malignant fibrous histiocytoma: identification of seven new mutations for soft tissue sarcomas by Taubert, H, Würl, P, Meye, A, Berger, D, Thamm, B, Neumann, K, Hinze, R, Schmidt, H, Rath, F W

“…p53 mutations are the most frequently observed tumor-related genetic changes. Mutational analysis concerns mostly carcinomas and is not comprehensive for soft…”
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Use of the phage display technique for detection of epitopes recognized by polyclonal rabbit gliadin antibodies by Osman, Awad A, Uhlig, Holm, Thamm, Barbara, Schneider-Mergener, Jens, Mothes, Thomas

“…A random phage heptapeptide library was screened with rabbit antibodies against wheat flour proteins comprising gliadins and a small amount of low molecular…”
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Field Performance of Embankment over Soft Soil by Thamm, Bernd R

“…The design, construction, and performance of an approach embankment constructed on soft soil is reviewed. Due to the poor subsoil conditions, the design…”
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Pitfalls in prenatal diagnosis of DMD due to confined placental mosaicism of X-chromosomes: prenatal diagnosis and fetopathological findings in a fetus with deletion of exon 68–72 of dystrophin gene by Vondran, S., Wolf, Cl, Edelman, J., Strenge, S., Thamm, B., Thiele, H., Froster, U.

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THROMBIN GENERATION AND THE TYPE OF ANTITHROMBIN DEFICIENCY by Siegemund, A., Scholz, U., Thamm-Mücke, B., Wittig, I., Joel, A., Wittig, K., Rühlmann, C., Siegemund, T.

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Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene by Vondran, Sigrid, Edelmann, Jeanett, Holland, Heidrun, Wolf, Claudia, Strenge, Sibylle, Thamm, Barbara, Thiele, Hannelore, Froster, Ursula G.

“…Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an…”
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Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion by Oexle, Konrad, Thamm-Mücke, Barbara, Mayer, Thomas, Tinschert, Sigrid

“…We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of…”
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Reply to “Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome” by Zappella et al by Oexle, Konrad, Thamm-Mücke, Barbara, Mayer, Thomas, Tinschert, Sigrid

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Multiple abnormalities in a child with male karyotype due to familial partial Xp duplication by Reichenbach, H, Holland, H, Thamm, B, Theile, T

“…A child with multiple abnormalities and intersexual external genitals is presented. The child has a male karyotype with a partial duplication Xp. Using…”
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