Search Results - "Bache, Iben"

Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education by Makransky, Guido, Bonde, Mads T, Wulff, Julie S G, Wandall, Jakob, Hood, Michelle, Creed, Peter A, Bache, Iben, Silahtaroglu, Asli, Nørremølle, Anne

“…Simulation based learning environments are designed to improve the quality of medical education by allowing students to interact with patients, diagnostic…”
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17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature by Rasmussen, Maria, Vestergaard, Else Marie, Graakjaer, Jesper, Petkov, Yanko, Bache, Iben, Fagerberg, Christina, Kibæk, Maria, Svaneby, Dea, Petersen, Olav Bjørn, Brasch-Andersen, Charlotte, Sunde, Lone

“…17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The…”
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Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes by Halgren, Christina, Nielsen, Nete M., Nazaryan-Petersen, Lusine, Silahtaroglu, Asli, Collins, Ryan L., Lowther, Chelsea, Kjaergaard, Susanne, Frisch, Morten, Kirchhoff, Maria, Brøndum-Nielsen, Karen, Lind-Thomsen, Allan, Mang, Yuan, El-Schich, Zahra, Boring, Claire A., Mehrjouy, Mana M., Jensen, Peter K.A., Fagerberg, Christina, Krogh, Lotte N., Hansen, Jan, Bryndorf, Thue, Hansen, Claus, Talkowski, Michael E., Bak, Mads, Tommerup, Niels, Bache, Iben

“…The 6%–9% risk of an untoward outcome previously established by Warburton for prenatally detected de novo balanced chromosomal rearrangements (BCRs) does not…”
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Haploinsufficiency of ARHGAP42 is associated with hypertension by Fjorder, Amanda S, Rasmussen, Malene B, Mehrjouy, Mana M, Nazaryan-Petersen, Lusine, Hansen, Claus, Bak, Mads, Grarup, Niels, Nørremølle, Anne, Larsen, Lars A, Vestergaard, Henrik, Hansen, Torben, Tommerup, Niels, Bache, Iben

“…Family studies have established that the heritability of blood pressure is significant and genome-wide association studies (GWAS) have identified numerous…”
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Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans by Thienpont, Bernard, Zhang, Litu, Postma, Alex V., Breckpot, Jeroen, Tranchevent, Léon-Charles, Van Loo, Peter, Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Zeynep, van Engelen, Klaartje, Menten, Björn, Mortier, Geert, Waggoner, Darrel, Gewillig, Marc, Moreau, Yves, Devriendt, Koen, Larsen, Lars Allan

“…Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology…”
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The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood by Döring, Jan Henje, Saffari, Afshin, Bast, Thomas, Brockmann, Knut, Ehrhardt, Laura, Fazeli, Walid, Janzarik, Wibke G., Kluger, Gerhard, Muhle, Hiltrud, Møller, Rikke S., Platzer, Konrad, Santos, Joana Larupa, Bache, Iben, Bertsche, Astrid, Bonfert, Michaela, Borggräfe, Ingo, Broser, Philip J., Datta, Alexandre N., Hammer, Trine Bjørg, Hartmann, Hans, Hasse-Wittmer, Anette, Henneke, Marco, Kühne, Hermann, Lemke, Johannes R., Maier, Oliver, Matzker, Eva, Merkenschlager, Andreas, Opp, Joachim, Patzer, Steffi, Rostasy, Kevin, Stark, Birgit, Strzelczyk, Adam, von Stülpnagel, Celina, Weber, Yvonne, Wolff, Markus, Zirn, Birgit, Hoffmann, Georg Friedrich, Kölker, Stefan, Syrbe, Steffen

“…Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic…”
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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy by Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur

“…Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients…”
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A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome by Bache, Iben, Wadt, Karin, Mehrjouy, Mana M., Rossing, Maria, Østrup, Olga, Byrjalsen, Anna, Tommerup, Niels, Metzner, Marlen, Vyas, Paresh, Schmiegelow, Kjeld, Lausen, Birgitte, Andersen, Mette K.

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von Hippel‐Lindau development in children and adolescents by Launbjerg, Karoline, Bache, Iben, Galanakis, Michael, Bisgaard, Marie Luise, Binderup, Marie Louise M.

“…The autosomal dominant von Hippel‐Lindau disease (vHL) is associated with a lifelong risk of tumor development, especially retinal and CNS hemangioblastomas,…”
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Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review by Thomsen, Simon Horsholt, Lund, Ida Charlotte Bay, Fagerberg, Christina, Bache, Iben, Becher, Naja, Vogel, Ida

“…Objective To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS). Methods A retrospective…”
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Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study by Schlaikjær Hartwig, Tanja, Ambye, Louise, Gruhn, Jennifer R, Petersen, Jesper Friis, Wrønding, Tine, Amato, Letizia, Chi-Ho Chan, Andrew, Ji, Boyang, Bro-Jørgensen, Maiken Hemme, Werge, Lene, Petersen, Mette Marie Babiel Schmidt, Brinkmann, Clara, Ribberholt, Julie Boesgaard, Dunø, Morten, Bache, Iben, Herrgård, Markus J, Jørgensen, Finn Stener, Hoffmann, Eva R, Nielsen, Henriette Svarre, Nielsen, Henriette Svarre, Hartwig, Tanja Schlaikjær, Freiesleben, Nina la Cour, Jørgensen, Finn Stener Jørgensen, Ambye, Louise, Bliddal, Sofie, Søndergaard, Therese Juhlin, Ostrowski, Sisse Rye, Sørensen, Erik, Larsen, Margit Anita Hørup, Herregård, Markus J., Hoffmann, Eva, Gruhn, Jenny, Chan, Andy Chi Ho, Kolte, Astrid Marie, Westergaard, David, þorsteinsdóttir, Unnur, Stefánsson, Kári, Jónsson, Hákon, Magnússon, Ólafur þ., Steinthorsdottir, Valgerdur, Schmidt, Lone, Kristiansen, Karsten, Kamstrup, Pia Rørbæk, Nyegaard, Mette, Krog, Maria Christine, Løkkegaard, Ellen Christine Leth, Bredkjær, Helle Ejdrup, Wilken-Jensen, Charlotte

“…One in four pregnancies end in a pregnancy loss. Although the effect on couples is well documented, evidence-based treatments and prediction models are absent…”
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Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18 by Steffensen, Ellen Hollands, Hyett, Jonathan, Petersen, Olav Bjørn, Vogel, Ida

“…Objective To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a…”
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Placental mosaicism for autosomal trisomies: comprehensive follow-up of 528 Danish cases (1983–2021) by Thomsen, Simon H., Lund, Ida C.B., Bache, Iben, Becher, Naja, Vogel, Ida

“…[Display omitted] Mosaicism, characterized by the presence of two or more chromosomally distinct cell lines, is detected in 2% to 4% of chorionic villus…”
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Cell-Free Fetal DNA for Genetic Evaluation in Copenhagen Pregnancy Loss Study (COPL): A Prospective Cohort Study by Schlaikjær Hartwig, Tanja, Ambye, Louise, Gruhn, Jennifer R., Petersen, Jesper Friis, Wrønding, Tine, Amato, Letizia, Chi-Ho Chan, Andrew, Ji, Boyang, Bro-Jørgensen, Maiken Hemme, Werge, Lene, Petersen, Mette Marie Babiel Schmidt, Brinkmann, Clara, Petersen, Julie Birch, Dunø, Morten, Bache, Iben, Herrgård, Markus J., Jørgensen, Finn Stener, Hoffmann, Eva R., Nielsen, Henriette Svarre

“…(Abstracted from Lancet 2023;401:762–771 Spontaneous pregnancy loss occurs in approximately 1 in 4 pregnancies; however, diagnostic workup is mostly restricted…”
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation by Basilicata, M. Felicia, Bruel, Ange-Line, Semplicio, Giuseppe, Valsecchi, Claudia Isabelle Keller, Aktaş, Tuğçe, Duffourd, Yannis, Rumpf, Tobias, Morton, Jenny, Bache, Iben, Szymanski, Witold G., Gilissen, Christian, Vanakker, Olivier, Õunap, Katrin, Mittler, Gerhard, van der Burgt, Ineke, El Chehadeh, Salima, Cho, Megan T., Pfundt, Rolph, Tan, Tiong Yang, Kirchhoff, Maria, Menten, Björn, Vergult, Sarah, Lindstrom, Kristin, Reis, André, Johnson, Diana S., Fryer, Alan, McKay, Victoria, Fisher, Richard B., Thauvin-Robinet, Christel, Francis, David, Roscioli, Tony, Pajusalu, Sander, Radtke, Kelly, Ganesh, Jaya, Brunner, Han G., Wilson, Meredith, Faivre, Laurence, Kalscheuer, Vera M., Thevenon, Julien, Akhtar, Asifa

“…The etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulatory mechanisms maintain cellular identity and…”
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Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome by Nazaryan‐Petersen, Lusine, Oliveira, Inês R., Mehrjouy, Mana M., Mendez, Juan M. M., Bak, Mads, Bugge, Merete, Kalscheuer, Vera M., Bache, Iben, Hancks, Dustin C., Tommerup, Niels

“…Moebius syndrome (MBS) is a congenital disorder caused by paralysis of the facial and abducens nerves. Although a number of candidate genes have been…”
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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B by Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, M, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I

“…Halgren C, Kjaergaard S, Bak M, Hansen C, El‐Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp…”
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy by Rudolf, Gabrielle, Lesca, Gaetan, Mehrjouy, Mana M, Labalme, Audrey, Salmi, Manal, Bache, Iben, Bruneau, Nadine, Pendziwiat, Manuela, Fluss, Joel, de Bellescize, Julitta, Scholly, Julia, Møller, Rikke S, Craiu, Dana, Tommerup, Niels, Valenti-Hirsch, Maria Paola, Schluth-Bolard, Caroline, Sloan-Béna, Frédérique, Helbig, Katherine L, Weckhuysen, Sarah, Edery, Patrick, Coulbaut, Safia, Abbas, Mohamed, Scheffer, Ingrid E, Tang, Sha, Myers, Candace T, Stamberger, Hannah, Carvill, Gemma L, Shinde, Deepali N, Mefford, Heather C, Neagu, Elena, Huether, Robert, Lu, Hsiao-Mei, Dica, Alice, Cohen, Julie S, Iliescu, Catrinel, Pomeran, Cristina, Rubenstein, James, Helbig, Ingo, Sanlaville, Damien, Hirsch, Edouard, Szepetowski, Pierre

“…Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant…”
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Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity by HALGREN, Christina, BACHE, Iben, BAK, Mads, WANTING MYATT, Mikkel, ANDERSON, Claire Marie, BRØNDUM-NIELSEN, Karen, TOMMERUP, Niels

“…Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability,…”
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Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder by Rajkumar, Anto P, Christensen, Jane H, Mattheisen, Manuel, Jacobsen, Iben, Bache, Iben, Pallesen, Jonatan, Grove, Jakob, Qvist, Per, McQuillin, Andrew, Gurling, Hugh M, Tümer, Zeynep, Mors, Ole, Børglum, Anders D

“…Objectives Breakpoints of chromosomal abnormalities facilitate identification of novel candidate genes for psychiatric disorders. Genome‐wide significant…”
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