Výsledky vyhledávání - Caluseriu, Oana

46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing Autor Grimbly, Chelsey, Caluseriu, Oana, Metcalfe, Peter, Jetha, Mary M., Rosolowsky, Elizabeth T.

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Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome Autor He, Xu, Caluseriu, Oana, Srivastava, Ratika, Denny, Anne Marie, Bolduc, Francois V.

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Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome Autor Bassett, Anne S., Caluseriu, Oana, Weksberg, Rosanna, Young, Donald A., Chow, Eva W.C.

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Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature Autor Bobyn, Amy, Jetha, Mary, Frohlich, Breanne, Campbell, Sandra, Jaremko, Jacob L., Caluseriu, Oana, Grimbly, Chelsey

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Clinical Features of 78 Adults With 22q11 Deletion Syndrome Autor Bassett, Anne S., Chow, Eva W.C., Husted, Janice, Weksberg, Rosanna, Caluseriu, Oana, Webb, Gary D., Gatzoulis, Michael A.

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Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation Autor Doucette, Lance P., Noel, Nicole C. L., Zhai, Yi, Xu, Manlong, Caluseriu, Oana, Hoang, Stephanie C., Radziwon, Alina J., MacDonald, Ian M.

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Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo Autor Blackwell, Danielle L, Fraser, Sherri D, Caluseriu, Oana, Vivori, Claudia, Tyndall, Amanda V, Lamont, Ryan E, Parboosingh, Jillian S, Innes, A Micheil, Bernier, François P, Childs, Sarah J

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GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau... Autor Au, P.Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Autor Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna

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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome Autor Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.

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Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans Autor Qi, Cai, Feng, Irena, Costa, Ana Rita, Pinto-Costa, Rita, Neil, Jennifer E., Caluseriu, Oana, Li, Dong, Ganetzky, Rebecca D., Andersen, Charlotte Brasch, Fagerberg, Christina, Hansen, Lars Kjærsgaard, Bupp, Caleb, Muraresku, Colleen Clarke, Ruan, Xiangbin, Kang, Bowei, Hu, Kaining, Zhong, Rong, Brites, Pedro, Bhoj, Elizabeth J, Hill, R. Sean, Falk, Marni J., Hakonarson, Hakon, Kahle, Kristopher T., Sousa, Monica M, Walsh, Christopher A., Zhang, Xiaochang

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly Autor Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O’Driscoll, Mark, Mirzaa, Ghayda M

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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome Autor Li, Dong, March, Michael E., Fortugno, Paola, Cox, Liza L., Matsuoka, Leticia S., Monetta, Rosanna, Seiler, Christoph, Pyle, Louise C., Bedoukian, Emma C., Sánchez-Soler, María José, Caluseriu, Oana, Grand, Katheryn, Tam, Allison, Aycinena, Alicia R. P., Camerota, Letizia, Guo, Yiran, Sleiman, Patrick, Callewaert, Bert, Kumps, Candy, Dheedene, Annelies, Buckley, Michael, Kirk, Edwin P., Turner, Anne, Kamien, Benjamin, Patel, Chirag, Wilson, Meredith, Roscioli, Tony, Christodoulou, John, Cox, Timothy C., Zackai, Elaine H., Brancati, Francesco, Hakonarson, Hakon, Bhoj, Elizabeth J.

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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta Autor Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, Bloch-Zupan, Agnès

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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes Autor Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna

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A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures Autor Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Autor Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.

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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Autor Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Autor Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability Autor Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Humberson, Jennifer B., Robak, Laurie, Scott, Daryl A., Sutton, Vernon R., Skraban, Cara M., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Klee, Eric W., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Dewan, Tammie, Coban Akdemir, Zeynep H., Telegrafi, Aida, Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I., Pichurin, Pavel N., Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Redon, Richard, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Goldstein, David B., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.

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