Missense mutations in CASK, coding for the calcium‐/calmodulin‐dependent serine protein kinase, interfere with neurexin binding and neurexin‐induced oligomerization
Pan, Yingzhou Edward, Tibbe, Debora, Harms, Frederike Leonie, Reißner, Carsten, Becker, Kerstin, Dingmann, Bri, Mirzaa, Ghayda, Kattentidt‐Mouravieva, Anja A., Shoukier, Moneef, Aggarwal, Shagun, Missler, Markus, Kutsche, Kerstin, Kreienkamp, Hans‐Jürgen
Published in Journal of neurochemistry (01.05.2021)
Published in Journal of neurochemistry (01.05.2021)
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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity
Besterman, Aaron D, Althoff, Thorsten, Elfferich, Peter, Gutierrez-Mejia, Irma, Sadik, Joshua, Bernstein, Jonathan A, van Ierland, Yvette, Kattentidt-Mouravieva, Anja A, Nellist, Mark, Abramson, Jeff, Martinez-Agosto, Julian A
Published in PLoS genetics (01.07.2021)
Published in PLoS genetics (01.07.2021)
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Intrafamilial variability in SLC6A1 -related neurodevelopmental disorders
Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt, Anja, Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S, Johannesen, Katrine M, Rubboli, Guido
Published in Frontiers in neuroscience (12.07.2023)
Published in Frontiers in neuroscience (12.07.2023)
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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
Johannesen, Katrine M., Nielsen, Jimmi, Sabers, Anne, Isidor, Bertrand, Kattentidt-Mouravieva, Anja A., Zieglgänsberger, Dominik, Heidlebaugh, Alexis R., Oetjens, Kathryn F., Vidal, Anna Abuli, Christensen, Jakob, Tiller, Jacob, Freed, Amber N., Møller, Rikke S., Rubboli, Guido
Published in Frontiers in neuroscience (17.08.2023)
Published in Frontiers in neuroscience (17.08.2023)
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Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Published in Frontiers in neuroscience (11.08.2023)
Published in Frontiers in neuroscience (11.08.2023)
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Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome
Pellikaan, Karlijn, Rosenberg, Anna G. W., Davidse, Kirsten, Kattentidt-Mouravieva, Anja A., Kersseboom, Rogier, Bos-Roubos, Anja G., Grootjen, Lionne N., Damen, Layla, van den Berg, Sjoerd A. A., van der Lely, Aart J., Hokken-Koelega, Anita C. S., de Graaff, Laura C. G.
Published in Journal of clinical medicine (23.07.2021)
Published in Journal of clinical medicine (23.07.2021)
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What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
Rosenberg, Anna G. W., Pater, Minke R. A., Pellikaan, Karlijn, Davidse, Kirsten, Kattentidt-Mouravieva, Anja A., Kersseboom, Rogier, Bos-Roubos, Anja G., van Eeghen, Agnies, Veen, José M. C., van der Meulen, Jiske J., van Aalst-van Wieringen, Nina, Hoekstra, Franciska M. E., van der Lely, Aart J., de Graaff, Laura C. G.
Published in Journal of clinical medicine (22.11.2021)
Published in Journal of clinical medicine (22.11.2021)
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Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment
Pellikaan, Karlijn, Rosenberg, Anna G W, Kattentidt-Mouravieva, Anja A, Kersseboom, Rogier, Bos-Roubos, Anja G, Veen-Roelofs, José M C, van Wieringen, Nina, Hoekstra, Franciska M E, van den Berg, Sjoerd A A, van der Lely, Aart Jan, de Graaff, Laura C G
Published in The journal of clinical endocrinology and metabolism (01.12.2020)
Published in The journal of clinical endocrinology and metabolism (01.12.2020)
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.
Published in American journal of human genetics (04.02.2021)
Published in American journal of human genetics (04.02.2021)
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Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?
Poulton, Cathryn J., Schot, Rachel, Seufert, Katja, Lequin, Maarten H., Accogli, Andrea, Annunzio, Giuseppe D', Villard, Laurent, Philip, Nicole, de Coo, René, Catsman-Berrevoets, Coriene, Grasshoff, Ute, Kattentidt-Mouravieva, Anja, Calf, Hans, de Vreugt-Gronloh, Erika, van Unen, Leontine, Verheijen, Frans W., Galjart, Niels, Morris-Rosendahl, Deborah J., Mancini, Grazia M. S.
Published in American journal of medical genetics. Part A (01.09.2014)
Published in American journal of medical genetics. Part A (01.09.2014)
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Disruption of HNF1α binding site causes inherited severe unconjugated hyperbilirubinemia
van Dijk, Remco, Mayayo-Peralta, Isabel, Aronson, Sem J, Kattentidt-Mouravieva, Anja A, van der Mark, Vincent A, de Knegt, Rob, Oruc, Nevin, Beuers, Ulrich, Bosma, Piter J
Published in Journal of hepatology (01.12.2015)
Published in Journal of hepatology (01.12.2015)
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eP162 - Functional and structural analyses of novel Smith-Kingsmore syndrome-associated MTOR-variants reveal potential new mechanisms and predictors of pathogenicity
Besterman, Aaron, Althoff, Thorsten, Elfferich, Peter, Sonneveld, Mark, Gutierrez-Mejia, Irma, Sadik, Joshua, Bernstein, Jonathan, Kattentidt‐Mouravieva, Anja, van Ierland, Yvette, Nellist, Mark, Abramson, Jeff, Martinez-Agosto, Julian
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Functional and structural analyses of novel Smith-Kingsmore syndrome-associated MTOR-variants reveal potential new mechanisms and predictors of pathogenicity
Besterman, Aaron, Althoff, Thorsten, Elfferich, Peter, Sonneveld, Mark, Gutierrez-Mejia, Irma, Sadik, Joshua, Bernstein, Jonathan, Kattentidt‐Mouravieva, Anja, van Ierland, Yvette, Nellist, Mark, Abramson, Jeff, Martinez-Agosto, Julian
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
What Every Internist Should Know About Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five-Year Experience of Internal Medicine for Complex Rare Genetic Syndromes
Rosenberg, Anna G W, Pater, Minke R A, Davidse, Kirsten, Kattentidt-Mouravieva, Anja A, Kersseboom, Rogier, Bos-Roubos, Anja G, van Eeghen, Agnies, van der Meulen, Jiske J, Veen, José M C, van Aalst, Nina, Hoekstra, Franciska M E, Van der Lely, Aart J, de Graaff, Laura C G
Published in Journal of the Endocrine Society (03.05.2021)
Published in Journal of the Endocrine Society (03.05.2021)
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