Search Results - "DÖRK, T"

Gene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS) by Kerz, J., Schürmann, P., Rothämel, T., Dörk, T., Klintschar, M.

“…Background Both obstructive sleep apnea (OSA) and (at least a fraction of) sudden infant death syndrome (SIDS) are associated with impaired respiration. For…”
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Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan by Prokofyeva, D S, Mingazheva, E T, Valova, Ya V, Sakaeva, D D, Faishanova, R R, Nurgalieva, A Kh, Valiev, R R, Bogdanova, N, Dörk, T, Khusnutdinova, E K

“…About 5-10% of all ovarian cancer cases show familial clustering, and some 15-25% of familial ovarian cancer cases are mediated by high-penetrance mutations in…”
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Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping by Buratti, Emanuele, Dörk, Thilo, Zuccato, Elisabetta, Pagani, Franco, Romano, Maurizio, Baralle, Francisco E.

“…Alternative splicing of human cystic fibrosis transmembrane conductance regulator (CFTR) exon 9 is regulated by a combination of cis‐acting elements…”
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Frameshift variant FANCLc.1096_1099dupATTA is not associated with high breast cancer risk by Pfeifer, K., Schürmann, P., Bogdanova, N., Neuhäuser, K., Kostovska, I. Maleva, Plaseska-Karanfilska, D., Park-Simon, T.-W., Schindler, D., Dörk, T.

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ATM polymorphisms as risk factors for prostate cancer development by ANGELE, S, FALCONER, A, BULLOCK, S, HOPE, Q, MEITZ, J, DEARNALEY, D, DOWE, A, SOUTHGATE, C, ARDERN-JONES, A, EASTON, D. F, EELES, R. A, HALL, J, EDWARDS, S. M, DÖRK, T, BREMER, M, MOULLAN, N, CHAPOT, B, MUIR, K, HOULSTON, R, NORMAN, A. R

“…The risk of prostate cancer is known to be elevated in carriers of germline mutations in BRCA2, and possibly also in carriers of BRCA1 and CHEK2 mutations…”
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Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region by Prokofyeva, D, Bogdanova, N, Bermisheva, M, Zinnatullina, G, Hillemanns, P, Khusnutdinova, E, Dörk, T

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956: Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations by Sokolenko, A, Bogdanova, N, Kluzniak, W, Preobrazhenskaya, E, Iyevleva, A, Aleksakhina, S, Kuligina, E, Jakubowska, A, Dörk, T, Imyanitov, E

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CFTR gene mutations and male infertility by Stuhrmann, M., Dörk, T.

“…Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are a relatively frequent cause of male infertility. Depending on their…”
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Lymphatic capillary hypoplasia in the skin of fetuses with increased nuchal translucency and Turner's syndrome: comparison with trisomies and controls by von Kaisenberg, C.S., Wilting, J., Dörk, T., Nicolaides, K.H., Meinhold-Heerlein, I., Hillemanns, P., Brand-Saberi, B.

“…Fetuses with Turner's syndrome or trisomies 21, 18 and 13 show excess of skin, which can be visualized by ultrasonography as increased nuchal translucency at…”
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High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus by Bogdanova, NV, Antonenkova, NN, Rogov, YI, Karstens, JH, Hillemanns, P, Dörk, T

“…Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Hillemanns P, Dörk T. High frequency and allele‐specific differences of BRCA1 founder mutations in breast…”
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Diversity of the basic defect of homozygous CFTR mutation genotypes in humans by Stanke, F, Ballmann, M, Bronsveld, I, Dörk, T, Gallati, S, Laabs, U, Derichs, N, Ritzka, M, Posselt, H-G, Harms, H K, Griese, M, Blau, H, Mastella, G, Bijman, J, Veeze, H, Tümmler, B

“…Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous…”
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Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients by DÖRK, Thilo, BENDIX, Regina, WEISE, Sabine, STUHRMANN, Manfred, KARSTENS, Johann H, BREMER, Michael, RADES, Dirk, KLÖPPER, Karin, NICKE, Marion, SKAWRAN, Britta, HECTOR, Ariadne, YAMINI, Paria, STEINMANN, Diana

“…Blood relatives of patients with the inherited disease ataxia telangiectasia (A-T) have an increased susceptibility for breast cancer. We therefore looked for…”
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Testis-Specific Protein, Y-Encoded (TSPY) Expression in Testicular Tissues by Schnieders, Frank, Dörk, Thilo, Arnemann, Joachim, Vogel, Tanja, Werner, Martin, Schmidtke, Jörg

“…TSPY, the ‘testis-specific protein, Y-encoded’, is the product of a tandem gene cluster on human proximal Yp. In order to gain insight into the function of…”
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Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens by DÖRK, T, DWORNICZAK, B, PANDER, H.-J, SPERLING, H, RATJEN, F, PASSARGE, E, SCHMIDTKE, J, STUHRMANN, M, AULEHLA-SCHOLZ, C, WIECZOREK, D, BÖHM, I, MAYEROVA, A, SEYDEWITZ, H. H, NIESCHLAG, E, MESCHEDE, D, HORST, J

“…Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive azoospermia and accounts for 1%-2% of male infertility. A high incidence of…”
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The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing by Prokofyeva, D. S., Mingajeva, E. T., Bogdanova, N. V., Faiskhanova, R. R., Sakaeva, D. D., Dörk, T., Khusnutdinova, E. K.

“…Ovarian cancer is one of the most insidious of tumors among gynecological cancers in the world. BRCA1 and BRCA2 mutations are associated with high risk of…”
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Molecular Genetics of Breast and Ovarian Cancer: Recent Advances and Clinical Implications by Dörk, Thilo, Bogdanova, N

“…Over the last few years, evidence has been accumulated that several susceptibility genes exist that differentially impact on the lifetime risk for breast or…”
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Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis by Ockenga, J, Stuhrmann, M, Ballmann, M, Teich, N, Keim, V, Dörk, T, Manns, M.P

“…OBJECTIVE: We investigated whether mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and cationic trypsinogen gene are…”
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Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis by Ockenga, J, Stuhrmann, M, Ballmann, M, Teich, N, Keim, V, Dörk, T, Manns, M P

“…We investigated whether mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and cationic trypsinogen gene are associated with…”
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Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families by Sandoval, Natalia, Platzer, Matthias, Rosenthal, André, Dörk, Thilo, Bendix, Regina, Skawran, Britta, Stuhrmann, Manfred, Wegner, Rolf-Dieter, Sperling, Karl, Banin, Sharon, Shiloh, Yosef, Baumer, Alessandra, Bernthaler, Ulrike, Sennefelder, Helga, Brohm, Monika, Weber, Bernhard H. F., Schindler, Detlev

“…Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer…”
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Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis by OCKENGA, JOHANN, DÖRK, THILO, STUHRMANN, MANFRED

“…E ditor -Chronic idiopathic pancreatitis is a genetically heterogeneous disease. 1-3 Mutations of the cationic trypsinogen (CT) gene underlie some cases of…”
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