Detection of clinically relevant exonic copy-number changes by array CGH von Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., del Gaudio, Daniela, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel

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Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features von Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Afawi, Zaid, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Craiu, Dana, De Jonghe, Peter, Guerrero-Lopez, Rosa, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Jähn, Johanna, Klein, Karl Martin, Leguern, Eric, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, José, Sterbová, Katalin, Suls, Arvid, Moller, Rikke S., Striano, Pasquale, Weber, Yvonne, Zara, Federico, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping von El-Hattab, Ayman W, Smolarek, Teresa A, Walker, Martha E, Schorry, Elizabeth K, Immken, LaDonna L, Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C, Ou, Zhishuo, Kang, Sung-Hae L, Patel, Ankita, Scaglia, Fernando, Lupski, James R, Cheung, Sau Wai, Stankiewicz, Pawel

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Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum von Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J., Bluske, Krista, Perry, Denise, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Lee, Brendan

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior von Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., Gassen, Koen L.I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B.A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.

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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance von Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro‐Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes von Beaudet, Arthur L, Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Stankiewicz, Pawel

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Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder von Latypova, Xenia, Vincent, Marie, Mollé, Alice, Adebambo, Oluwadamilare A., Fourgeux, Cynthia, Khan, Tahir N., Caro, Alfonso, Rosello, Monica, Orellana, Carmen, Niyazov, Dmitriy, Lederer, Damien, Deprez, Marie, Capri, Yline, Kannu, Peter, Tabet, Anne Claude, Levy, Jonathan, Aten, Emmelien, den Hollander, Nicolette, Splitt, Miranda, Walia, Jagdeep, Immken, Ladonna L., Stankiewicz, Pawel, McWalter, Kirsty, Suchy, Sharon, Louie, Raymond J., Bell, Shannon, Stevenson, Roger E., Rousseau, Justine, Willem, Catherine, Retiere, Christelle, Yang, Xiang-Jiao, Campeau, Philippe M., Martinez, Francisco, Rosenfeld, Jill A., Le Caignec, Cédric, Küry, Sébastien, Mercier, Sandra, Moradkhani, Kamran, Conrad, Solène, Besnard, Thomas, Cogné, Benjamin, Katsanis, Nicholas, Bézieau, Stéphane, Poschmann, Jeremie, Davis, Erica E., Isidor, Bertrand

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

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Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia von Qidwai, Kanwal, Pearson, David M., Patel, Gayle Simpson, Pober, Barbara R., Immken, LaDonna L., Cheung, Sau Wai, Scott, Daryl A.

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Prenatal Treatment of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency von Pang, Songya, Pollack, Marilyn S, Marshall, Robert N, Immken, LaDonna

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A cell hybrid and recombinant DNA library that facilitate identification of polymorphic loci in the vicinity of the Huntington disease gene von WASMUTH, J. J, CARLOCK, L. R, SMITH, B, IMMKEN, L. L

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A small recurrent deletion within 15g13.3 is associated with a range of neurodevelopmental phenotypes von Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Beaudet, Arthur L, Stankiewicz, Pawel

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The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed von IMMKEN, L, MOHANDAS, T, SPARKES, R. S, SHARPIRO, L. J

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The Nager syndrome von Hecht, Jacqueline T., Immken, LaDonna L., Harris, Lileah F., Malini, Srini, Scott Jr, Charles I., Opitz, John M., Reynolds, James F.

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SITE OF ACTION OF 3',5'-CYCLIC ADENOSINE MONOPHOSPHATE IN PRODUCTION OF TRYPTOPHANASE IN ESCHERICHIA COLI von Immken, LaDonna, Apirion, David

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Gastrointestinal tract anomalies in velocardiofacial syndrome von Enns, Gregory M., Cox, Victoria A., Golabi, Mahin, Immken, LaDonna, Fisher, Jamie, Curry, Cynthia

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 von Koczkowska, M, Chen, Y, Callens, T, Gomes, A, Sharp, A, Johnson, S, Hsiao, M.-C, Chen, Z, Balasubramanian, M, Barnett, C.P, Becker, T.A, Ben-Shachar, S, Bertola, D.R, Blakeley, J.O, Burkitt-Wright, E.M.M, Callaway, A, Crenshaw, M, Cunha, K.S, Cunningham, M, D'Agostino, M.D, Dahan, K, De Luca, A, Destrée, A, Dhamija, R, Eoli, M, Evans, D.G.R, Galvin-Parton, P, George-Abraham, J.K, Gripp, K.W, Guevara-Campos, J, Hanchard, N.A, Hernández-Chico, C, Immken, L, Janssens, S, Jones, K.J, Keena, B.A, Kochhar, A, Liebelt, J, Martir-Negron, A, Mahoney, M.J, Maystadt, I, McDougall, C, McEntagart, M, Mendelsohn, N, Miller, D.T, Mortier, G, Morton, J, Pappas, J, Plotkin, S.R, Pond, D, Rosenbaum, K, Rubin, K, Russell, L, Rutledge, L.S, Saletti, V, Schonberg, R, Schreiber, A, Seidel, M, Siqveland, E, Stockton, D.W, Trevisson, E, Ullrich, N.J, Upadhyaya, M, van Minkelen, R, Verhelst, H, Wallace, M.R, Yap, Y.-S, Zackai, E, Zonana, J, Zurcher, V, Claes, K, Martin, Y, Korf, B.R, Legius, E, Messiaen, L.M

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The Pena-Shokeir syndrome: Report of five cases and further delineation of the syndrome von Chen, H., Blumberg, B., Immken, L., Lachman, R., Rightmire, D., Fowler, M., Bachman, R., Beemer, F. A.

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Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: Delineation of a new entity and review of letha... von Chen, H., Immken, L., Lachman, R., Yang, S., Rimoin, D. L., Rightmire, D., Eteson, D., Stewart, F., Beemer, F. A., Opitz, J. M., Gilbert, E. F., Langer, L. O., Shapiro, L. R., Duncan, P. A.

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