A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

por Altaraihi, Mays, Gerdes, Anne-Marie, Wadt, Karin
Publicado 2019

Hereditary Breast Cancer: Clinical, Pathological and Molecular Characteristics

por Larsen, Martin J, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A
Publicado 2014

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

por Byrjalsen, Anna, Steffensen, Ane Y., Hansen, Thomas v. O., Wadt, Karin, Gerdes, Anne‐Marie
Publicado 2017

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

por Steffensen, Ane Y., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C., Hansen, Thomas V. O.
Publicado 2010

A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report

por Rossing, Maria, Gerdes, Anne-Marie, Juul, Anders, Rechnitzer, Catherine, Rudnicki, Martin, Nielsen, Finn C, vO Hansen, Thomas
Publicado 2014

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

por Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Publicado 2014

Prevalence of Pathogenic Germline DICER1 Variants in Young Individuals Thyroidectomised Due to Goitre – A National Danish Cohort

por Altaraihi, Mays, Hansen, Thomas van Overeem, Santoni-Rugiu, Eric, Rossing, Maria, Rasmussen, Åse Krogh, Gerdes, Anne-Marie, Wadt, Karin
Publicado 2021

Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients

por Tan, Ming, Brusgaard, Klaus, Gerdes, Anne‐Marie, Mortensen, Michael Bau, Detlefsen, Sönke, Schaffalitzky de Muckadell, Ove B., Joergensen, Maiken Thyregod
Publicado 2021

Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

por Langer, Seppo W., Ringholm, Lene, Dali, Christine I., Petersen, Rene Horsleben, Rasmussen, Åse Krogh, Gerdes, Anne-Marie, Federspiel, Birgitte, Knigge, Ulrich Peter
Publicado 2015

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

por Stoltze, Ulrik, Skytte, Anne-Bine, Roed, Henriette, Hasle, Henrik, Ejlertsen, Bent, van Overeem Hansen, Thomas, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Wadt, Karin
Publicado 2018

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

por Bennedbæk, Marc, Rossing, Maria, Rasmussen, Åse K., Gerdes, Anne-Marie, Skytte, Anne-Bine, Jensen, Uffe B., Nielsen, Finn C., Hansen, Thomas v. O.
Publicado 2016

Exploring the hereditary background of renal cancer in Denmark

por Christensen, Maria Bejerholm, Wadt, Karin, Jensen, Uffe Birk, Lautrup, Charlotte Kvist, Bojesen, Anders, Krogh, Lotte Nylandsted, van Overeem Hansen, Thomas, Gerdes, Anne-Marie
Publicado 2019

Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients

por Tan, Ming, Brusgaard, Klaus, Gerdes, Anne‐Marie, Larsen, Martin Jakob, Mortensen, Michael Bau, Detlefsen, Sönke, de Muckadell, Ove B. Schaffalitzky, Joergensen, Maiken Thyregod
Publicado 2022

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

por Larsen, Martin J, Thomassen, Mads, Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Sørensen, Kristina P, Andersen, Mette Klarskov, Kruse, Torben A, Gerdes, Anne-Marie
Publicado 2014

A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

por Aoude, Lauren G., Wadt, Karin, Bojesen, Anders, Crüger, Dorthe, Borg, Åke, Trent, Jeffrey M., Brown, Kevin M., Gerdes, Anne-Marie, Jönsson, Göran, Hayward, Nicholas K.
Publicado 2013

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

por Byrjalsen, Anna, Stoltze, Ulrik, Mehrjouy, Mana, Frederiksen, Jane Hübertz, Bak, Mads, Birkedal, Ulf, Hasle, Henrik, Gerdes, Anne‐Marie, Schmiegelow, Kjeld, Wadt, Karin, Hansen, Thomas van Overeem
Publicado 2023

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

por Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas v. O., Gerdes, Anne-Marie
Publicado 2020

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

por Petersen, Sanne M, Dandanell, Mette, Rasmussen, Lene J, Gerdes, Anne-Marie, Krogh, Lotte N, Bernstein, Inge, Okkels, Henrik, Wikman, Friedrik, Nielsen, Finn C, Hansen, Thomas v O
Publicado 2013

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

por Byrjalsen, Anna, Diets, Illja J., Bakhuizen, Jette, Hansen, Thomas van Overeem, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Stoltze, Ulrik, Kuiper, Roland P., Merks, Johannes H. M., Wadt, Karin, Jongmans, Marjolijn
Publicado 2021

Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling

por Larsen, Martin J., Kruse, Torben A., Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Lykkesfeldt, Anne E., Sørensen, Kristina P., Hansen, Thomas v. O., Ejlertsen, Bent, Gerdes, Anne-Marie, Thomassen, Mads
Publicado 2013