Search Results - "Kibaek, M."

Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association by Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F., Cacchiarelli, D.

“…The application of next-generation sequencing (NGS) to clinical practice is still hampered by the ability to interpret the clinical relevance of novel variants…”
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Effect of a clown's presence at botulinum toxin injections in children: a randomized, prospective study by Hansen, Lars Kjaersgaard, Kibaek, Maria, Martinussen, Torben, Kragh, Lene, Hejl, Mogens

“…The effect of the presence of a hospital clown during pediatric procedures has rarely been evaluated. In a pediatric ward, botulinum toxin injection is a…”
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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency by Ostergaard, E., Moller, L. Birk, Kalkanoglu-Sivri, H. Serap, Dursun, A., Kibaek, M., Thelle, T., Christensen, E., Duno, M., Wibrand, F.

“…Summary The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to…”
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Duplication of 7q36.3 encompassing the Sonic Hedgehog ( SHH ) gene is associated with congenital muscular hypertrophy by Kroeldrup, L, Kjaergaard, S, Kirchhoff, M, Kock, K, Brasch-Andersen, C, Kibaek, M, Ousager, L.B

“…Abstract Muscular hypertrophy is a very rare finding on foetal ultrasonography. We present a case with recurrent muscular hypertrophy, liver enlargement and…”
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The misdiagnosis of epilepsy in children admitted to a tertiary epilepsy centre with paroxysmal events by Uldall, P, Alving, J, Hansen, L K, Kibæk, M, Buchholt, J

“…Aims: To determine the proportion of children admitted with difficult to treat paroxysmal events to a tertiary epilepsy centre who did not have epilepsy…”
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias by Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.

“…Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are…”
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Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy by Bisgaard, A-M, Kirchhoff, M, Nielsen, JE, Kibæk, M, Lund, A, Schwartz, M, Christensen, E

“…A deletion on one chromosome and a mutant allele on the other may cause an autosomal recessive disease. We report on two patients with mental retardation,…”
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia by Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.

“…The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals…”
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes by Gil-Rodríguez, María Concepción, Deardorff, Matthew A., Ansari, Morad, Tan, Christopher A., Parenti, Ilaria, Baquero-Montoya, Carolina, Ousager, Lilian B., Puisac, Beatriz, Hernández-Marcos, María, Teresa-Rodrigo, María Esperanza, Marcos-Alcalde, Iñigo, Wesselink, Jan-Jaap, Lusa-Bernal, Silvia, Bijlsma, Emilia K., Braunholz, Diana, Bueno-Martinez, Inés, Clark, Dinah, Cooper, Nicola S., Curry, Cynthia J., Fisher, Richard, Fryer, Alan, Ganesh, Jaya, Gervasini, Cristina, Gillessen-Kaesbach, Gabriele, Guo, Yiran, Hakonarson, Hakon, Hopkin, Robert J., Kaur, Maninder, Keating, Brendan J., Kibaek, María, Kinning, Esther, Kleefstra, Tjitske, Kline, Antonie D., Kuchinskaya, Ekaterina, Larizza, Lidia, Li, Yun R., Liu, Xuanzhu, Mariani, Milena, Picker, Jonathan D., Pié, Ángeles, Pozojevic, Jelena, Queralt, Ethel, Richer, Julie, Roeder, Elizabeth, Sinha, Anubha, Scott, Richard H., So, Joyce, Wusik, Katherine A., Wilson, Louise, Zhang, Jianguo, Gómez-Puertas, Paulino, Casale, César H., Ström, Lena, Selicorni, Angelo, Ramos, Feliciano J., Jackson, Laird G., Krantz, Ian D., Das, Soma, Hennekam, Raoul C.M., Kaiser, Frank J., FitzPatrick, David R., Pié, Juan

“…ABSTRACT Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple…”
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study by Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè

“…Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological…”
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias by Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.

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Chromosomal deletion unmasking a recessive disease : 22ql3 deletion syndrome and metachromatic leukodystrophy by BISGAARD, A.-M, KIRCHHOFF, M, NIELSEN, J. E, KIBAEK, M, LUND, A, SCHWARTZ, M, CHRISTENSEN, E

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Effect of a clown rsquo;s presence at botulinum toxin injections in children: a randomized, prospective study by Hansen LK, Kibaek M, Martinussen T, Kragh L, Hejl M

“…Lars Kjaersgaard Hansen1, Maria Kibaek1, Torben Martinussen2, Lene Kragh3, Mogens Hejl11Department of Paediatrics, Hans Christian Andersen Children's…”
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Clinical and Mutational Spectrum of Mowat–Wilson Syndrome by Zweier, Christiane, Thiel, Christian T, Dufke, Andreas, Crow, Yanick J, Meinecke, Peter, Suri, Mohnish, Ala-Mello, Sirpa, Beemer, Frits, Bernasconi, Sergio, Bianchi, Paolo, Bier, Andrea, Devriendt, Koen, Dimitrov, Boyan, Firth, Helen, Gallagher, Renata C, Garavelli, Livia, Gillessen-Kaesbach, Gabriele, Hudgins, Louanne, Kääriäinen, Helena, Karstens, Susan, Krantz, Ian, Mannhardt, Anca, Medne, Livija, Mücke, Jürgen, Kibaek, Maria, Krogh, Lotte Nylandsted, Peippo, Maarit, Rittinger, Olaf, Schulz, Solveig, L Schelley, Susan, Temple, I Karen, Dennis, Nick R, Van der Knaap, Marjo S, Wheeler, Patricia, Yerushalmi, Baruch, Zenker, Martin, Seidel, Heide, Lachmeijer, A, Prescott, Trine, Kraus, Cornelia, Lowry, R Brian, Rauch, Anita

“…Mowat–Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype…”
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Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping by MADSEN, Pia Pinholt, KIBAEK, Maria, WANDERS, Ronald J. A, RUITER, Jos P. N, GREGERSEN, Niels, ANDRESEN, Brage Storstein, ROCA, Xavier, SACHIDANANDAM, Ravi, KRAINER, Adrian R, CHRISTENSEN, Ernst, STEINER, Robert D, GIBSON, K. Michael, CORYDON, Thomas J, KNUDSEN, Inga

“…Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of L: -isoleucine catabolism. Little is known about the…”
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Thrombocytopenia in cytomegalovirus infection by Kibaek, M

“…A case of a 15 month old female patient with thrombocytopenic purpura induced by postnatally acquired Cytomegalovirus (CMV) infection is described. Treatment…”
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2 brothers with hereditary male pseudohermaphroditism (Reifenstein's syndrome) by Kibaek, M, Jacobsen, B B

“…Reifenstein's syndrome is a rare hereditary disorder with partial androgen insensitivity. Two brothers are reported in whom the diagnosis not was established…”
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