Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies
Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
Get full text
Journal Article
Osteoporotic Vertebral Fractures During Pregnancy: Be Aware of a Potential Underlying Genetic Cause
Campos-Obando, Natalia, Oei, Ling, Hoefsloot, Lies H, Kiewiet, Rosalie M, Klaver, Caroline C. W, Simon, Marleen E. H, Zillikens, M. Carola
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
Get full text
Journal Article
Evaluation of a non-breath-hold MR cholangiography technique
Macaulay, S E, Schulte, S J, Sekijima, J H, Obregon, R G, Simon, H E, Rohrmann, Jr, C A, Freeny, P C, Schmiedl, U P
Published in Radiology (01.07.1995)
Published in Radiology (01.07.1995)
Get more information
Journal Article
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Kummeling, Joost, Stremmelaar, Diante E, Raun, Nicholas, Reijnders, Margot R F, Willemsen, Marjolein H, Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C O, Gilissen, Christian, Cho, Megan T, McWalter, Kirsty, Sinnema, Margje, Wheless, James W, Simon, Marleen E H, Genetti, Casie A, Casey, Alicia M, Terhal, Paulien A, van der Smagt, Jasper J, van Gassen, Koen L I, Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A, Agrawal, Pankaj B, Hoffman, Trevor L, Powell-Hamilton, Nina N, Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M, Schwaibold, Eva M C, Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R, Kramer, Jamie M, Kleefstra, Tjitske
Published in Molecular psychiatry (01.06.2021)
Published in Molecular psychiatry (01.06.2021)
Get full text
Journal Article
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
Ott, Claus E, Leschik, Gundula, Trotier, Fabienne, Brueton, Louise, Brunner, Han G, Brussel, Wim, Guillen-Navarro, Encarna, Haase, Claudia, Kohlhase, Juergen, Kotzot, Dieter, Lane, Andrew, Lee-Kirsch, Min Ae, Morlot, Susanne, Simon, Marleen E.H, Steichen-Gersdorf, Elisabeth, Tegay, David H, Peters, Hartmut, Mundlos, Stefan, Klopocki, Eva
Published in Human mutation (01.08.2010)
Published in Human mutation (01.08.2010)
Get full text
Journal Article
Low‐temperature compounding of flax fibers with polyamide 6 via solid‐state shear pulverization: Towards viable natural fiber composites with engineering thermoplastics
Wakabayashi, Katsuyuki, Vancoillie, Simon H.E., Assfaw, Mekdes G., Choi, David H., Desplentere, Frederik, Van Vuure, Aart W.
Published in Polymer composites (01.08.2019)
Published in Polymer composites (01.08.2019)
Get full text
Journal Article
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
Terhal, Paulien A., van Dommelen, Paula, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E.H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Kinning, Esther, Mansour, Sahar, Hennekam, Raoul C.M., van der Hout, Annemarie H., Cormier-Daire, Valerie, Lund, Allan M., Goodwin, Linda, Mégarbané, André, Lees, Melissa, Betz, Regina C., Tobias, Edward S., Coucke, Paul, Mortier, Geert R.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.08.2012)
Get full text
Journal Article
PLS3 Mutations in X-Linked Osteoporosis with Fractures
van Dijk, Fleur S, Zillikens, M. Carola, Micha, Dimitra, Riessland, Markus, Marcelis, Carlo L.M, de Die-Smulders, Christine E, Milbradt, Janine, Franken, Anton A, Harsevoort, Arjan J, Lichtenbelt, Klaske D, Pruijs, Hans E, Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M, Bakker, Astrid D, Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J, Verkerk, Annemieke J.M.H, Uitterlinden, André G, Maugeri, Alessandra, Sistermans, Erik A, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde, Simon, Marleen E.H, Pals, Gerard
Published in The New England journal of medicine (17.10.2013)
Published in The New England journal of medicine (17.10.2013)
Get full text
Journal Article
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Adam, Shelin, Boelman, Cyrus, Bolbocean, Corneliu, Candido, Tara, Eydoux, Patrice, Horvath, Gabriella, Huh, Linda, Nelson, Tanya N., Sinclair, Graham, van Karnebeek, Clara, Vercauteren, Suzanne, Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.
Published in American journal of human genetics (03.08.2017)
Published in American journal of human genetics (03.08.2017)
Get full text
Journal Article
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan
Published in American journal of human genetics (06.06.2024)
Published in American journal of human genetics (06.06.2024)
Get full text
Journal Article
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Pan, Xueyang, Tao, Alice M., Lu, Shenzhao, Ma, Mengqi, Hannan, Shabab B., Slaugh, Rachel, Drewes Williams, Sarah, O'Grady, Lauren, Kanca, Oguz, Person, Richard, Carter, Melissa T., Platzer, Konrad, Schnabel, Franziska, Abou Jamra, Rami, Roberts, Amy E., Newburger, Jane W., Revah-Politi, Anya, Granadillo, Jorge L., Stegmann, Alexander P.A., Sinnema, Margje, Accogli, Andrea, Salpietro, Vincenzo, Capra, Valeria, Ghaloul-Gonzalez, Lina, Brueckner, Martina, Simon, Marleen E.H., Sweetser, David A., Glinton, Kevin E., Kirk, Susan E., Burrage, Lindsay C., Heaney, Jason D., Kim, Seon-Young, Lanza, Denise G., Liu, Zhandong, Mao, Dongxue, Milosavljevic, Aleksander, Nagamani, Sandesh C.S., Posey, Jennifer E., Ramamurthy, Uma, Ramanathan, Vivek, Rogers, Jeffrey, Rosenfeld, Jill A., Roth, Matthew, Zahedi Darshoori, Ramin, Wangler, Michael F., Yamamoto, Shinya, Chung, Wendy K., Bellen, Hugo J.
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
Get full text
Journal Article
Collodion babies: A 15-year retrospective multicenter study in The Netherlands—Evaluation of severity scores to predict the underlying disease
Cuperus, Edwin, Bolling, Marieke C., de Graaf, Marlies, van den Akker, Peter C., van Gijn, Marielle E., Simon, Marleen E.H., Sigurdsson, Vigfús, Pasmans, Suzanne G.M.A.
Published in Journal of the American Academy of Dermatology (01.04.2021)
Published in Journal of the American Academy of Dermatology (01.04.2021)
Get full text
Journal Article
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E H, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T A, van den Bogaart, Geert, van Hijum, Sacha A F T, Rodenburg, Richard, van den Heuvel, Lambertus P, van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, van Scherpenzeel, Monique, Lefeber, Dirk J, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude
Published in Human molecular genetics (01.09.2018)
Published in Human molecular genetics (01.09.2018)
Get full text
Journal Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.
Published in Human genetics (01.05.2018)
Published in Human genetics (01.05.2018)
Get full text
Journal Article
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., Kleefstra, Tjitske
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
Get full text
Journal Article
Cardiac-gated MR angiography of the entire lower extremity: a prospective comparison with conventional angiography
Glickerman, DJ, Obregon, RG, Schmiedl, UP, Harrison, SD, Macaulay, SE, Simon, HE, Kohler, TR
Published in American journal of roentgenology (1976) (01.08.1996)
Published in American journal of roentgenology (1976) (01.08.1996)
Get full text
Journal Article
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis
Smit, DL, Mensenkamp, AR, Badeloe, S, Breuning, MH, Simon, MEH, Van Spaendonck, KY, Aalfs, CM, Post, JG, Shanley, S, Krapels, IPC, Hoefsloot, LH, Van Moorselaar, RJA, Starink, TM, Bayley, J-P, Frank, J, Van Steensel, MAM, Menko, FH
Published in Clinical genetics (01.01.2011)
Published in Clinical genetics (01.01.2011)
Get full text
Journal Article
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
van den Bogaard, Ellen H.J., van Geel, Michel, van Vlijmen-Willems, Ivonne M.J.J., Jansen, Patrick A.M., Peppelman, Malou, van Erp, Piet E.J., Atalay, Selma, Venselaar, Hanka, Simon, Marleen E.H., Joosten, Marieke, Schalkwijk, Joost, Zeeuwen, Patrick L.J.M.
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
Get full text
Journal Article
NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum
den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., Karnebeek, Clara D. M. van
Published in Frontiers in neurology (07.06.2021)
Published in Frontiers in neurology (07.06.2021)
Get full text
Journal Article
Magnetic resonance and ionizing radiation: a comparative evaluation in vitro of oncogenic and genotoxic potential
Geard, C R, Osmak, R S, Hall, E J, Simon, H E, Maudsley, A A, Hilal, S K
Published in Radiology (01.07.1984)
Published in Radiology (01.07.1984)
Get more information
Journal Article