Genetically diagnosed Birt–Hogg–Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report

por Whitworth, James, Stausbøl-Grøn, Brian, Skytte, Anne-Bine
Publicado 2016

The use of expanded carrier screening of gamete donors

por Payne, Molly R, Skytte, Anne-Bine, Harper, Joyce C
Publicado 2021

Effects of virtual reality erotica on ejaculate quality of sperm donors: a balanced and randomized controlled cross-over within-subjects trial

por Rosenkjær, Daniel, Pacey, Allan, Montgomerie, Robert, Skytte, Anne-Bine
Publicado 2022

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2

por Markholt, Sara, Graakjaer, Jesper, Thim, Signe Bødker, Høst, Bente, Skytte, Anne‐Bine
Publicado 2017

Childhood pneumothorax in Birt‐Hogg‐Dubé syndrome: A cohort study and review of the literature

por Geilswijk, Marianne, Bendstrup, Elisabeth, Madsen, Mia Gebauer, Sommerlund, Mette, Skytte, Anne‐Bine
Publicado 2018

Familial idiopathic pulmonary fibrosis in a young female

por Sritharan, Sajitha S., Gajewska, Marta E., Skytte, Anne-Bine S., Madsen, Line Bille, Bendstrup, Elisabeth
Publicado 2018

Birt–Hogg–Dubé syndrome: a case report and a review of the literature

por Jensen, Dea Kejlberg, Villumsen, Anders, Skytte, Anne-Bine, Madsen, Mia Gebauer, Sommerlund, Mette, Bendstrup, Elisabeth
Publicado 2017

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

por Moellgaard, Maria Hammer, Lund, Ida Charlotte Bay, Becher, Naja, Skytte, Anne‐Bine, Andreasen, Lotte, Srebniak, Malgorzata Ilona, Vogel, Ida
Publicado 2022

Experiences and attitudes of Danish men who were sperm donors more than 10 years ago; a qualitative interview study

por Lou, Stina, Bollerup, Stina, Terkildsen, Morten Deleuran, Adrian, Stine Willum, Pacey, Allan, Pennings, Guido, Vogel, Ida, Skytte, Anne-Bine
Publicado 2023

An analysis of the outcome of 11 712 men applying to be sperm donors in Denmark and the USA

por Pacey, Allan A, Pennings, Guido, Mocanu, Edgar, Rothmar, Janne, Pinborg, Anja, Adrian, Stine Willum, Burke, Corey, Skytte, Anne-Bine
Publicado 2023

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

Gamete donation in the time of DNA surprises

por Adrian, Stine W., Ravn, Tine, Herrmann, Janne Rothmar, Sylvest, Randi, Kokado, Minori, Semba, Yukari, Fencker, Mads, Skytte, Anne‐Bine, Sellmer, Anette, Grønbæk, Emma, Wahlberg, Ayo, Kesmodel, Ulrik
Publicado 2022

UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

por Wake, Naomi C, Ricketts, Christopher J, Morris, Mark R, Prigmore, Elena, Gribble, Susan M, Skytte, Anne-Bine, Brown, Michael, Clarke, Noel, Banks, Rosamonde E, Hodgson, Shirley, Turnell, Andrew S, Maher, Eamonn R, Woodward, Emma R
Publicado 2013

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

por Djursby, Malene, Madsen, Majbritt B., Frederiksen, Jane H., Berchtold, Lukas A., Therkildsen, Christina, Willemoe, Gro L., Hasselby, Jane P., Wikman, Friedrik, Okkels, Henrik, Skytte, Anne-Bine, Nilbert, Mef, Wadt, Karin, Gerdes, Anne-Marie, van Overeem Hansen, Thomas
Publicado 2020

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing

por Liu, Mei Hong, Costa, Benjamin, Choi, Una, Bandler, Rachel C., Lassen, Emilie, Grońska-Pęski, Marta, Schwing, Adam, Murphy, Zachary R., Rosenkjær, Daniel, Picciotto, Shany, Bianchi, Vanessa, Stengs, Lucie, Edwards, Melissa, Loh, Caitlin A., Truong, Tina K., Brand, Randall E., Pastinen, Tomi, Wagner, J. Richard, Skytte, Anne-Bine, Tabori, Uri, Shoag, Jonathan E., Evrony, Gilad D.
Publicado 2023

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

por Bae, Jin H., Liu, Ruolin, Roberts, Eugenia, Nguyen, Erica, Tabrizi, Shervin, Rhoades, Justin, Blewett, Timothy, Xiong, Kan, Gydush, Gregory, Shea, Douglas, An, Zhenyi, Patel, Sahil, Cheng, Ju, Sridhar, Sainetra, Liu, Mei Hong, Lassen, Emilie, Skytte, Anne-Bine, Grońska-Pęski, Marta, Shoag, Jonathan E., Evrony, Gilad D., Parsons, Heather A., Mayer, Erica L., Makrigiorgos, G. Mike, Golub, Todd R., Adalsteinsson, Viktor A.
Publicado 2023

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

por Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
Publicado 2019

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

por Depner, Mark, Fuchs, Sebastian, Raabe, Jan, Frede, Natalie, Glocker, Cristina, Doffinger, Rainer, Gkrania-Klotsas, Effrossyni, Kumararatne, Dinakantha, Atkinson, T. Prescott, Schroeder, Harry W., Niehues, Tim, Dückers, Gregor, Stray-Pedersen, Asbjørg, Baumann, Ulrich, Schmidt, Reinhold, Franco, Jose L., Orrego, Julio, Ben-Shoshan, Moshe, McCusker, Christine, Jacob, Cristina Miuki Abe, Carneiro-Sampaio, Magda, Devlin, Lisa A., Edgar, J. David M., Henderson, Paul, Russell, Richard K., Skytte, Anne-Bine, Seneviratne, Suranjith L., Wanders, Jennifer, Stauss, Hans, Meyts, Isabelle, Moens, Leen, Jesenak, Milos, Kobbe, Robin, Borte, Stephan, Borte, Michael, Wright, Dowain A., Hagin, David, Torgerson, Troy R., Grimbacher, Bodo
Publicado 2015

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

por Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Publicado 2018