檢索結果 - Nowaczyk, Malgorzata JM

Ad infinitum 由 Nowaczyk, Malgorzata J.M.

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Growth Charts for Individuals with Smith-Lemli-Opitz Syndrome 由 Lee, Ryan W.Y., McGready, John, Conley, Sandra K., Yanjanin, Nicole M., Nowaczyk, Małgorzata J.M., Porter, Forbes D.

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Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies 由 Clark, Dinah M., Sherer, Ilana, Deardorff, Matthew A., Byrne, Janice L.B., Loomes, Kathleen M., Nowaczyk, Malgorzata J.M., Jackson, Laird G., Krantz, Ian D.

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5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation 由 Quintero-Rivera, Fabiola, Eno, Celeste C., Sutanto, Christine, Jones, Kelly L., Nowaczyk, Małgorzata J.M., Wong, Derek, Earl, Dawn, Mirzaa, Ghayda, Beck, Anita, Martinez-Agosto, Julian A

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Dosage effect of zero to three functional LBR-genes in vivo and in vitro 由 Gravemann, Sophia, Schnipper, Nele, Meyer, Hannes, Vaya, Amparo, Nowaczyk, Malgorzata JM, Rajab, Anna, Hofmann, Wolf-Karsten, Salewsky, Bastian, Tönnies, Holger, Neitzel, Heidemarie, Stassen, Hans H, Sperling, Karl, Hoffmann, Katrin

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Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse 由 Bi, Weimin, Yan, Jiong, Stankiewicz, Paweł, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F., Potocki, Lorraine, Shaffer, Lisa G., Devriendt, Koen, Nowaczyk, Małgorzata J.M., Inoue, Ken, Lupski, James R.

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Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy? 由 Nowaczyk, Małgorzata J.M., Thompson, Brandi A., Zeesman, Susan, Moog, Ute, Sanchez-Lara, Pedro A., Magoulas, Pilar L., Falk, Rena E., Fong, Julie Hoover, Batista, Denise A.S., Amudhavalli, Shivarajan M., White, Sue M., Graham, Gail E., Rauen, Katherine A.

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Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44 由 Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bay, Carolyn, Pettigrew, Anjana, Lalani, Seema R, Herman, Kristin, Graham, Brett H, Nowaczyk, Malgorzata JM, Proud, Monica, Craigen, William J, Hopkins, Bobbi, Kozel, Beth, Plunkett, Katie, Hixson, Patricia, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai

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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant 由 Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant 由 Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

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SMARCAL1 Deficiency Predisposes to Non-Hodgkin Lymphoma and Hypersensitivity to Genotoxic Agents In vivo 由 Baradaran-Heravi, Alireza, Raams, Anja, Lubieniecka, Joanna, Cho, Kyoung Sang, DeHaai, Kristi A., Basiratnia, Mitra, Mari, Pierre-Olivier, Xue, Yutong, Rauth, Michael, Olney, Ann Haskins, Shago, Mary, Choi, Kunho, Weksberg, Rosanna A., Nowaczyk, Malgorzata J.M., Wang, Weidong, Jaspers, Nicolaas G.J., Boerkoel, Cornelius F.

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Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis 由 Bagheri, Hani, Badduke, Chansonette, Qiao, Ying, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jiadi, Wildin, Robert S., Nowaczyk, Malgorzata J.M., Eichmeyer, Jennifer, Lehman, Anna, Maranda, Bruno, Martell, Sally, Shan, Xianghong, Lewis, Suzanne M.E., O’Driscoll, Mark, Gregory-Evans, Cheryl Y., Rajcan-Separovic, Evica

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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A 由 Campbell, Ian M., Yatsenko, Svetlana A., Hixson, Patricia, Reimschisel, Tyler, Thomas, Matthew, Wilson, William, Dayal, Usha, Wheless, James W., Crunk, Amy, Curry, Cynthia, Parkinson, Nicole, Fishman, Leona, Riviello, James J., Nowaczyk, Malgorzata J.M., Zeesman, Susan, Rosenfeld, Jill A., Bejjani, Bassem A., Shaffer, Lisa G., Cheung, Sau Wai, Lupski, James R., Stankiewicz, Pawel, Scaglia, Fernando

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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis 由 Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome 由 Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression 由 Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 由 Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes 由 Curry, Cynthia J, Rosenfeld, Jill A, Grant, Erica, Gripp, Karen W, Anderson, Carol, Aylsworth, Arthur S, Ben Saad, Taha, Chizhikov, Victor V, Dybose, Giedre, Fagerberg, Christina, Falco, Michelle, Fels, Christina, Fichera, Marco, Graakjaer, Jesper, Greco, Donatella, Hair, Jennifer, Hopkins, Elizabeth, Huggins, Marlene, Ladda, Roger, Li, Chumei, Moeschler, John, Nowaczyk, Malgorzata JM, Ozmore, Jillian R, Reitano, Santina, Romano, Corrado, Roos, Laura, Schnur, Rhonda E, Sell, Susan, Suwannarat, Pim, Svaneby, Dea, Szybowska, Marta, Tarnopolsky, Mark, Tervo, Raymond, Tsai, Anne Chun-Hui, Tucker, Megan, Vallee, Stephanie, Wheeler, Ferrin C, Zand, Dina J, Barkovich, A James, Aradhya, Swaroop, Shaffer, Lisa G, Dobyns, William B

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A dyadic approach to the delineation of diagnostic entities in clinical genomics 由 Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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Response to Hamosh et al. 由 Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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