Search Results - "Simon, Marleen E.H"

PLS3 Mutations in X-Linked Osteoporosis with Fractures by 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

“…The authors report data from five families with pathogenic variants in the gene for plastin 3, PLS3. Findings in these families and in zebrafish indicate that…”
Get full text

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy by 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.

“…Massively parallel sequencing has revealed many de novo mutations in the etiology of developmental and epileptic encephalopathies (EEs), highlighting their…”
Get full text

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia by 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

“…Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large…”
Get full text

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies by 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

“…Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively,…”
Get full text

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features by 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.

“…FRY-like transcription coactivator (FRYL) belongs to a Furry protein family that is evolutionarily conserved from yeast to humans. The functions of FRYL in…”
Get full text

Collodion babies: A 15-year retrospective multicenter study in The Netherlands—Evaluation of severity scores to predict the underlying disease by 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.

Get full text

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation by 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

“…Abstract Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics…”
Get full text

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder by 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.

“…Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale…”
Get full text

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by 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

“…Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental…”
Get full text

Osteoporotic Vertebral Fractures During Pregnancy: Be Aware of a Potential Underlying Genetic Cause by Campos-Obando, Natalia, Oei, Ling, Hoefsloot, Lies H, Kiewiet, Rosalie M, Klaver, Caroline C. W, Simon, Marleen E. H, Zillikens, M. Carola

“…Context: Although the baby growing in its mother's womb needs calcium for skeletal development, osteoporosis and fractures very rarely occur during pregnancy…”
Get full text

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin by 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.

“…We aimed to assess the biological and clinical significance of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene, in diseases of…”
Get full text

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum by 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

“…Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS , encoding an essential enzyme…”
Get full text

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias by 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.

“…From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital…”
Get full text

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations by Oudesluijs, Grétel, Simon, Marleen E.H., Burggraaf, Rianne H.J., Waterham, Hans R., Hennekam, Raoul C.M.

“…We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly,…”
Get full text

Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report by de Vree, Paula Jp, Simon, Marleen Eh, van Dooren, Marieke F, Stoevelaar, Gerda Ht, Hilkmann, José Tw, Rongen, Michel A, Huijbregts, Gido Cm, Verkerk, Annemieke Jmh, Poddighe, Pino J

“…Complex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because…”
Get full text