Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
Pagel, Julia, Beutel, Karin, Lehmberg, Kai, Koch, Florian, Maul-Pavicic, Andrea, Rohlfs, Anna-Katharina, Al-Jefri, Abdullah, Beier, Rita, Bomme Ousager, Lilian, Ehlert, Karoline, Gross-Wieltsch, Ute, Jorch, Norbert, Kremens, Bernhard, Pekrun, Arnulf, Sparber-Sauer, Monika, Mejstrikova, Ester, Wawer, Angela, Ehl, Stephan, zur Stadt, Udo, Janka, Gritta
Published in Blood (21.06.2012)
Published in Blood (21.06.2012)
Get full text
Journal Article
Research participants in NGS studies want to know about incidental findings
Jelsig, Anne Marie, Qvist, Niels, Brusgaard, Klaus, Ousager, Lilian Bomme
Published in European journal of human genetics : EJHG (01.10.2015)
Published in European journal of human genetics : EJHG (01.10.2015)
Get full text
Journal Article
Lessons learned from 40 novel PIGA patients and a review of the literature
Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R., Moura de Souza, Carolina Fischinger, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne‐Marie, Hansen, Lars, Jezela‐Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R., Korff, Christian M., Kragh Hansen, Johanne, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L., Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie‐Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H., Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjærg, Lisbeth, Slegtenhorst, Marjon, Wolfe, Lynne A., Lal, Dennis, Gardella, Elena, Bomme Ousager, Lilian, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S.
Published in Epilepsia (Copenhagen) (01.06.2020)
Published in Epilepsia (Copenhagen) (01.06.2020)
Get full text
Journal Article
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Bomme Ousager, Lilian, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Poza Aldea, Juan José, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Brennan Spitale, Allison, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn
Published in Human mutation (01.06.2012)
Published in Human mutation (01.06.2012)
Get full text
Journal Article
On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO
Björkhem, Ingemar, Diczfalusy, Ulf, Lövgren-Sandblom, Anita, Starck, Lena, Jonsson, Monica, Tallman, Keri, Schirmer, Henrik, Ousager, Lilian Bomme, Crick, Peter J., Wang, Yuqin, Griffiths, William J., Guengerich, F. Peter
Published in Journal of lipid research (01.06.2014)
Published in Journal of lipid research (01.06.2014)
Get full text
Journal Article
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)
Krøigård, Anne Bruun, MD, PhD, Frost, Morten, MD, PhD, Larsen, Martin Jakob, MD, PhD, Ousager, Lilian Bomme, MD, PhD, Frederiksen, Anja Lisbeth, MD, PhD
Published in Bone (New York, N.Y.) (01.11.2016)
Published in Bone (New York, N.Y.) (01.11.2016)
Get full text
Journal Article
Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia
Tørring, Pernille M, Larsen, Martin Jakob, Kjeldsen, Anette D, Ousager, Lilian Bomme, Tan, Qihua, Brusgaard, Klaus
Published in PloS one (06.03.2014)
Published in PloS one (06.03.2014)
Get full text
Journal Article
Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant
Øzdemir, Cagla Margit, Nielsen, Mette Mølby, Liimatta, Jani, Voegel, Clarissa D, Elzenaty, Rawda Naamneh, Wasehuus, Victor S, Lind-Holst, Marie, Ornstrup, Marie Juul, Gram, Stine Bjørn, Ousager, Lilian Bomme, Flück, Christa E, Gravholt, Claus H
Published in Endocrinology, diabetes & metabolism case reports (01.07.2024)
Published in Endocrinology, diabetes & metabolism case reports (01.07.2024)
Get full text
Journal Article
Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome
Helle, Ole Magnus Bjorgaas, Pedersen, Torkild Høieggen, Ousager, Lilian Bomme, Thomassen, Mads, Hertz, Jens Michael
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
Get full text
Journal Article
Risk of Cancer and Mortality in Peutz-Jeghers Syndrome and Juvenile Polyposis Syndrome-A Nationwide Cohort Study With Matched Controls
Jelsig, Anne Marie, Wullum, Laus, Kuhlmann, Tine Plato, Ousager, Lilian Bomme, Burisch, Johan, Karstensen, John Gásdal
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2023)
Published in Gastroenterology (New York, N.Y. 1943) (01.12.2023)
Get full text
Journal Article
Identification of a founder variant AAGAB c. 370C >T, p. Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark
Gram, Stine Bjørn, Jørgensen, Anne Sofie Fredberg, Bygum, Anette, Brusgaard, Klaus, Ousager, Lilian Bomme
Published in Clinical genetics (01.05.2024)
Published in Clinical genetics (01.05.2024)
Get full text
Journal Article
Juvenile Polyps in Denmark From 1995 to 2014
Jelsig, Anne Marie, Ousager, Lilian Bomme, Brusgaard, Klaus, Qvist, Niels
Published in Diseases of the colon & rectum (01.08.2016)
Published in Diseases of the colon & rectum (01.08.2016)
Get full text
Journal Article
Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in patients with punctate palmoplantar keratoderma in Southern Denmark
Gram, Stine Bjørn, Jørgensen, Anne Sofie Fredberg, Bygum, Anette, Brusgaard, Klaus, Ousager, Lilian Bomme
Published in Clinical genetics (01.05.2024)
Published in Clinical genetics (01.05.2024)
Get full text
Journal Article
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Ali, Cohen, Julie S., Lemke, Johannes, Sørensen, Kristina P., Helbig, Katherine L., Lessel, Davor, Abou Jamra, Rami
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
Get full text
Journal Article
Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk
Gram, Stine Bjørn, Brusgaard, Klaus, Bygum, Anette, Christensen, Alex Hørby, Ousager, Lilian Bomme
Published in Journal of dermatology (01.05.2024)
Published in Journal of dermatology (01.05.2024)
Get full text
Journal Article
Hamartomatous polyposis syndromes: a review
Jelsig, Anne Marie, Qvist, Niels, Brusgaard, Klaus, Nielsen, Claus Buhl, Hansen, Tine Plato, Ousager, Lilian Bomme
Published in Orphanet journal of rare diseases (15.07.2014)
Published in Orphanet journal of rare diseases (15.07.2014)
Get full text
Journal Article
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance
Louise M Binderup, Marie, Smerdel, Maja, Borgwadt, Line, Beck Nielsen, Signe Sparre, Madsen, Mia Gebauer, Møller, Hans Ulrik, Kiilgaard, Jens Folke, Friis-Hansen, Lennart, Harbud, Vibeke, Cortnum, Søren, Owen, Hanne, Gimsing, Steen, Friis Juhl, Henning Anker, Munthe, Sune, Geilswijk, Marianne, Rasmussen, Åse Krogh, Møldrup, Ulla, Graumann, Ole, Donskov, Frede, Grønbæk, Henning, Stausbøl-Grøn, Brian, Schaffalitzky de Muckadell, Ove, Knigge, Ulrich, Dam, Gitte, Wadt, Karin AW, Bøgeskov, Lars, Bagi, Per, Lund, Lars, Stochholm, Kirstine, Ousager, Lilian Bomme, Sunde, Lone
Published in European journal of medical genetics (01.08.2022)
Published in European journal of medical genetics (01.08.2022)
Get full text
Journal Article
Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study
Jelsig, Anne Marie, Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise‐Lotte, Lautrup, Charlotte Kvist, Frederiksen, Jane Hübertz, Sunde, Lone, Ousager, Lilian Bomme, Ljungmann, Ken, Bertelsen, Birgitte, Karstensen, John Gásdal
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
Get full text
Journal Article