Search Results - "Timshel, Susanne"

Role for Genetic Anticipation in Lynch Syndrome by NILBERT, Mef, TIMSHEL, Susanne, BERNSTEIN, Inge, LARSEN, Klaus

“…Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in…”
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Cytogenetically unrelated clones in therapy-related myelodysplasia and acute myeloid leukemia: Experience from the Copenhagen series updated to 180 consecutive cases by Pedersen-Bjergaard, Jens, Timshel, Susanne, Andersen, Mette Klarskov, Andersen, Anne-Sofie Thøger, Philip, Preben

“…During the period from 1995 to 1997, we studied 19 new cases of therapy‐related myelodysplasia (t‐MDS) and acute myeloid leukemia (t‐AML), extending our series…”
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Potential diagnostic consequences of applying non‐invasive prenatal testing: population‐based study from a country with existing first‐trimester screening by Petersen, O. B., Vogel, I., Ekelund, C., Hyett, J., Tabor, A., Christiansen, Marianne, Farlie, Richard, Hoseth, Eva, Ibsen, Mette Holm, Jensen, Hanne Søndergaard, Jørgensen, Finn Stener, Larsen, Torben, Olesen, Annette Wind, Østergaard, Marianne, Pouplier, Susanne, Shalmi, Anne‐Cathrine, Skibsted, Lillian, Sperling, Lene, Sundberg, Karin, Zingenberg, Helle, Bojesen, Anders, Fagerberg, Christina, Jensen, Peter Kjestrup Axel, Petersen, Michael Bjørn, Timshel, Susanne

“…ABSTRACT Objectives Targeted non‐invasive prenatal testing (NIPT) tests for trisomies 21, 18 and 13 and sex chromosome aneuploidies and could be an alternative…”
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Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark by Diness, Birgitte Rode, Overbeck, Gritt, Hjortshøj, Tina Duelund, Hammer, Trine Bjørg, Timshel, Susanne, Sørensen, Else, McAllister, Marion

“…Outcome measurement in clinical genetics is challenging. Robust outcome measures are needed to provide evidence to support service development within genetic…”
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Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome by Nieuwenhuis, Marry H., Kets, C. Marleen, Murphy-Ryan, Maureen, Yntema, Helger G., Evans, D. Gareth, Colas, Chrystelle, Møller, Pal, Hes, Frederik J., Hodgson, Shirley V., Olderode-Berends, Maran J. W., Aretz, Stefan, Heinimann, Karl, Gómez García, Encarna B., Douglas, Fiona, Spigelman, Allan, Timshel, Susanne, Lindor, Noralane M., Vasen, Hans F. A.

“…Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of…”
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Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome by Jensen, Uffe Birk, Sunde, Lone, Timshel, Susanne, Halvarsson, Britta, Nissen, Anja, Bernstein, Inge, Nilbert, Mef

“…Whether or not breast cancer can be a feature of the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome has been debated. In order to clarify if…”
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Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer by Jønson, Lars, Ahlborn, Lise B., Steffensen, Ane Y., Djursby, Malene, Ejlertsen, Bent, Timshel, Susanne, Nielsen, Finn C., Gerdes, Anne-Marie, Hansen, Thomas V. O.

“…Germ-line mutations in the RAD51C gene have recently been identified in families with breast and ovarian cancer and have been associated with an increased risk…”
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Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations—a clinical observational study by Bardram, Linda, Hansen, Thomas V. O., Gerdes, Anne-Marie, Timshel, Susanne, Friis-Hansen, Lennart, Federspiel, Birgitte

“…Inactivating mutations in the CDH1 (E-cadherin) gene are the predisposing cause of gastric cancer in most families with hereditary diffuse gastric cancer…”
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A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome by Boonstra, Philip S., Gruber, Stephen B., Raymond, Victoria M., Huang, Shu-Chen, Timshel, Susanne, Nilbert, Mef, Mukherjee, Bhramar

“…Anticipation, manifested through decreasing age of onset or increased severity in successive generations, has been noted in several genetic diseases…”
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Different Cytogenetic Patterns in Specified Categories of Secondary AML: Results of a Population-Based Registry Study by Norgaard, Jan M., Oestgaard, Lene S.G., Andersen, Mette K., Kallenbach, Maria, Johansen, Preben, Bendix, Knud, Kerndrup, Gitte, Preiss, Birgitte, Dufva, Inge, Timshel, Susanne, Kristensen, Joergen, Brown, Peter de Nully

“…Abstract 3586 The prognosis of leukemia patients suffering from secondary AML (sAML) compared to that of patients with de novo AML is dismal. The group of…”
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High Early Death Rate with Excellent Survival Beyond Day 30 in Acute Promyelocytic Leukemia Confirmed in Unselected Patients: Results of a Population-Based Registry Study by Norgaard, Jan M., Ostgard, Lene Sofie Granfeldt, Kjeldsen, Eigil, Holm, Mette S., Kjeldsen, Lars, Kallenbach, Maria, Severinsen, Marianne T., Johansen, Preben, Friis, Lone S., Weber, Duruta, Kerndrup, Gitte, Preiss, Birgitte, Jensen, Morten K., Dufva, Inge H., Timshel, Susanne, Andersen, Mette K., Nielsen, Ove J.

“…Abstract 3542 The prognosis of acute promyelocytic leukemia (APL) has improved markedly over the last two decades. Clinical trials have demonstrated excellent…”
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Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system by Bernstein, Inge T., Lindorff-Larsen, Karen, Timshel, Susanne, Brandt, Carsten A., Dinesen, Birger, Fenger, Mogens, Gerdes, Anne-Marie, Iversen, Lene H., Madsen, Mogens R., Okkels, Henrik, Sunde, Lone, Rahr, Hans B., Wikman, Friedrick P., Rossing, Niels

“…The Danish HNPCC register is a publically financed national database. The register gathers epidemiological and genomic data in HNPCC families to improve…”
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From intellectual disability to new treatment modalities of fragile X syndrome by Jønch, Aia Elise, Timshel, Susanne, Carlsen Lunding, Jytte Merete, Grønskov, Karen, Brøndum-Nielsen, Karen

“…In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most…”
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Genetic testing and counselling in inherited eye disease by Brøndum-Nielsen, Karen, Jensen, Hanne, Timshel, Susanne, Grønskov, Karen, Larsen, Michael

“…Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention…”
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Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population by Nilbert, Mef, Wikman, Friedrik P., Hansen, Thomas V. O., Krarup, Henrik B., Örntoft, Torben F., Nielsen, Finn C., Sunde, Lone, Gerdes, Anne-Marie, Cruger, Dorthe, Timshel, Susanne, Bisgaard, Marie-Louise, Bernstein, Inge, Okkels, Henrik

“…An increasing number of mismatch-repair (MMR) gene mutations have been identified in hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. This…”
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Urokinase Plasminogen Activator Is Localized in Stromal Cells in Ductal Breast Cancer by Nielsen, Boye Schnack, Sehested, Maxwell, Duun, Susanne, Rank, Fritz, Timshel, Susanne, Rygaard, Jørgen, Johnsen, Morten, Danø, Keld

“…Urokinase plasminogen activator (uPA) regulates a proteolytic cascade that facilitates cancer invasion through degradation of the extracellular matrix, and…”
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An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations by Timshel, Susanne, Therkildsen, Christina, Bendahl, Pär-Ola, Bernstein, Inge, Nilbert, Mef

“…Abstract Optimal prevention of hereditary cancer is central and requires initiation of surveillance programmes and/or prophylactic measures at a safe age…”
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92 kDa type IV collagenase (MMP‐9) is expressed in neutrophils and macrophages but not in malignant epithelial cells in human colon cancer by Nielsen, Boye S., Timshel, Susanne, Kjeldsen, Lars, Sehested, Maxwell, Pyke, Charles, Borregaard, Niels, Danø, Keld

“…Degradation of the extracellular matrix during cancer invasion is accomplished by the concerted action of several proteolytic enzymes, including matrix…”
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Danish Lynch syndrome families by Therkildsen, Christina, Timshel, Susanne, Nilbert, Mef

“…The Danish Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Register is a national resource that registers families with hereditary colorectal cancer. HNPCC…”
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Messenger RNA for urokinase plasminogen activator is expressed in myofibroblasts adjacent to cancer cells in human breast cancer by Nielsen, B S, Sehested, M, Timshel, S, Pyke, C, Danø, K

“…Urokinase plasminogen activator (uPA) is a serine proteinase involved in degradation of the extracellular matrix during cancer invasion. uPA is up-regulated in…”
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