Search Results - "KJAERGAARD, Susanne"

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability by Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane

“…An increasing number of genes involved in chromatin structure and epigenetic regulation has been implicated in a variety of developmental disorders, often…”
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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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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant by Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

“…Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we…”
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Serum Levels of Anti-Müllerian Hormone as a Marker of Ovarian Function in 926 Healthy Females from Birth to Adulthood and in 172 Turner Syndrome Patients by HAGEN, Casper P, AKSGLAEDE, Lise, HOLM PETERSEN, Jorgen, LINNEBERG, Allan, KJAERGAARD, Susanne, JUUL, Anders, SØRENSEN, Kaspar, MAIN, Katharina M, BOAS, Malene, CLEEMANN, Line, HOLM, Kirsten, GRAVHOLT, Claus H, ANDERSSON, Anna-Maria, PEDERSEN, Anette T

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A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes by Bartholdi, Deborah, Stray-Pedersen, Asbjørg, Azzarello-Burri, Silvia, Kibaek, Maria, Kirchhoff, Maria, Oneda, Beatrice, Rødningen, Olaug, Schmitt-Mechelke, Thomas, Rauch, Anita, Kjaergaard, Susanne

“…Proximal deletions of the long arm of chromosome 13 have been reported only rarely. Here we present three unrelated patients with heterozygous, apparently de…”
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45,X/46,XY Mosaicism: Phenotypic Characteristics, Growth, and Reproductive Function—A Retrospective Longitudinal Study by Lindhardt Johansen, Marie, Hagen, Casper P, Rajpert-De Meyts, Ewa, Kjærgaard, Susanne, Petersen, Bodil L, Skakkebæk, Niels E, Main, Katharina M, Juul, Anders

“…Context: Most previous studies of 45,X/46,XY mosaicism are case reports or have described single aspects of the disease. Objective: The objective was to…”
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Correlation between Z score, fetal fraction, and sequencing reads in non‐invasive prenatal testing by Balslev‐Harder, Marie, Richter, Stine R., Kjærgaard, Susanne, Johansen, Peter

“…What's already known about this topic? A reliable result from non‐invasive prenatal testing depends on sufficient amount of fetal DNA and sequencing reads. A…”
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Fetal gender adjustment decreases the expected variance in non-invasive prenatal testing analysis by Johansen, Peter, Duno, Morten, Kjærgaard, Susanne

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Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening by Miltoft, Caroline Borregaard, Wulff, Camilla B, Kjærgaard, Susanne, Ekelund, Charlotte K, Tabor, Ann

“…The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high…”
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Serum levels of anti-Müllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients by Hagen, Casper P, Aksglaede, Lise, Sørensen, Kaspar, Main, Katharina M, Boas, Malene, Cleemann, Line, Holm, Kirsten, Gravholt, Claus H, Andersson, Anna-Maria, Pedersen, Anette T, Petersen, Jørgen Holm, Linneberg, Allan, Kjaergaard, Susanne, Juul, Anders

“…In adult women, anti-Müllerian hormone (AMH) is related to the ovarian follicle pool. Little is known about AMH in girls. The objective of the study was to…”
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction by Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.

“…Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and…”
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The length of Y-chromosomal sequence reads in noninvasive prenatal testing reflect allogeneic bone marrow transplant: Y-chromosomal read profiles in NIPT reflect bone marrow transplant by Balslev-Harder, Marie, Jørgensen, Finn Stener, Kjaergaard, Susanne, Johansen, Peter

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FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty by Hagen, Casper P., Main, Katharina M., Kjaergaard, Susanne, Juul, Anders

“…BACKGROUND Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the…”
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The length of Y‐chromosomal sequence reads in noninvasive prenatal testing reflect allogeneic bone marrow transplant by Balslev‐Harder, Marie, Jørgensen, Finn Stener, Kjaergaard, Susanne, Johansen, Peter

“…What's already known about this topic? NIPT for fetal sex determination is routinely performed, yet false results may arise due to rare incidents such as…”
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia by Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E., Pasquier, Laurent, Küry, Sébastien

“…RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait…”
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The Danish Fetal Medicine Database: establishment, organization and quality assessment of the first trimester screening program for trisomy 21 in Denmark 2008-2012 by Ekelund, Charlotte K, Petersen, Olav B, Jørgensen, Finn S, Kjaergaard, Susanne, Larsen, Torben, Olesen, Annette W, Skibsted, Lillian, Skovbo, Peter, Sommer, Steffen, Sperling, Lene, Stavnstrup, Benedicte, Størup, Birgitte, Zingenberg, Helle, Uldbjerg, Niels, Miltoft, Caroline B, Noergaard, Lasse, Wulff, Camilla B, Tabor, Ann

“…To describe the establishment and organization of the Danish Fetal Medicine Database and to report national results of first-trimester combined screening for…”
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Open source non-invasive prenatal testing platform and its performance in a public health laboratory by Johansen, Peter, Richter, Stine R., Balslev-Harder, Marie, Miltoft, Caroline B., Tabor, Ann, Duno, Morten, Kjaergaard, Susanne

“…Objective The objective of this study was to introduce non‐invasive prenatal testing (NIPT) for fetal autosomal trisomies and gender in a Danish public health…”
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Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy by Ottesen, Anne Marie, Aksglaede, Lise, Garn, Inger, Tartaglia, Nicole, Tassone, Flora, Gravholt, Claus H., Bojesen, Anders, Sørensen, Kaspar, Jørgensen, Niels, Rajpert-De Meyts, Ewa, Gerdes, Tommy, Lind, Anne-Marie, Kjaergaard, Susanne, Juul, Anders

“…Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are…”
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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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Monozygotic twins with a de novo 0.32Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation by Gronborg, Sabine, Kjaergaard, Susanne, Hove, Hanne, Larsen, Vibeke André, Kirchhoff, Maria

“…Nervous system development is highly dependent on the function of microtubules, which are assembled from tubulin heterodimers containing several [alpha]- and…”
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