Search Results - "Svaneby, Dea"

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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Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study by Frost, Morten, Tencerova, Michaela, Andreasen, Christina M., Andersen, Thomas L., Ejersted, Charlotte, Svaneby, Dea, Qui, Weimin, Kassem, Moustapha, Zarei, Allahdad, McAlister, William H., Veis, Deborah J., Whyte, Michael P., Frederiksen, Anja L.

“…NF-κB essential modulator (NEMO), encoded by IKBKG, is necessary for activation of the ubiquitous transcription factor nuclear factor…”
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The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010 by Nguyen-Nielsen, Mary, Skovbo, Stine, Svaneby, Dea, Pedersen, Lars, Fryzek, Jon

“…Abstract X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterised by hypohidrosis, sparse hair, and teeth abnormalities. Infants with XLHED have an…”
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14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients by Eno, Celeste C., Graakjaer, Jesper, Svaneby, Dea, Nizon, Mathilde, Kianmahd, Jessica, Signer, Rebecca, Martinez‐Agosto, Julian A., Quintero‐Rivera, Fabiola

“…Three unrelated patients with similar microdeletions of chromosome 14q32.11 with shared phenotypes including language and developmental delay, and four…”
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Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations by Graversen, Lise, Handrup, Mette Møller, Irving, Melita, Hove, Hanne, Diness, Birgitte Rode, Risom, Lotte, Svaneby, Dea, Aagaard, Mads Malik, Vogel, Ida, Gjørup, Hans, Davidsen, Michael, Hellfritzsch, Michel Bach, Lauridsen, Eva, Gregersen, Pernille Axél

“…We present five Danish individuals with Hajdu-Cheney syndrome (HJCYS) (OMIM #102500), a rare multisystem skeletal disorder with distinctive facies, generalised…”
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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes by Curry, Cynthia J., Rosenfeld, Jill A., Grant, Erica, Gripp, Karen W., Anderson, Carol, Aylsworth, Arthur S., Saad, Taha Ben, Chizhikov, Victor V., Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata J.M., Ozmore, Jillian R., Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E., Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J., Barkovich, A. James, Aradhya, Swaroop, Shaffer, Lisa G., Dobyns, William B.

“…Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well‐known Miller–Dieker syndrome. A recently described duplication syndrome…”
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Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs4) and a common mutation (N291S) in the lipoprotein lipase gene by Overgaard, Martin, Brasen, Claus Lohman, Svaneby, Dea, Feddersen, Søren, Nybo, Mads

“…Familial lipoprotein lipase (LPL) deficiency (FLLD) is a rare autosomal recessive genetic disorder caused by homozygous or compound heterozygous mutations in…”
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Coralline hydroxyapatite granules inferior to morselized allograft around uncemented porous Ti implants: Unchanged fixation by addition of concentrated autologous bone marrow aspirate by Baas, Jorgen, Svaneby, Dea, Jensen, Thomas Bo, Elmengaard, Brian, Bechtold, Joan, Soballe, Kjeld

“…We compared early fixation of titanium implants grafted with impacted allograft bone or coralline hydroxyapatite (HA) granules (Pro Osteon 200) with and…”
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14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients by Eno, Celeste C, Graakjaer, Jesper, Svaneby, Dea, Nizon, Mathilde, Kianmahd, Jessica, Signer, Rebecca, Martinez-Agosto, Julian A, Quintero-Rivera, Fabiola

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