Arama Sonuçları - Zepeda Mendoza, Cinthya J.

The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders Yazar: Zepeda-Mendoza, Cinthya J., Morton, Cynthia C.

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Computational Prediction of Position Effects of Human Chromosome Rearrangements Yazar: Zepeda-Mendoza, Cinthya J., Menon, Shreya, Morton, Cynthia C.

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Transient Pairing of Homologous Oct4 Alleles Accompanies the Onset of Embryonic Stem Cell Differentiation Yazar: Hogan, Megan S., Parfitt, David-Emlyn, Zepeda-Mendoza, Cinthya J., Shen, Michael M., Spector, David L.

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Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy Yazar: Zepeda‐Mendoza, Cinthya J., Bontrager, Jordan E., Fisher, Camille F., McDonald, Amber, George‐Abraham, Jaya K., Hasadsri, Linda

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Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin Yazar: Zepeda-Mendoza, Cinthya J., Bardon, Alexandra, Kammin, Tammy, Harris, David J., Cox, Helen, Redin, Claire, Ordulu, Zehra, Talkowski, Michael E., Morton, Cynthia C.

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Concomitant 1p/19q co-deletion and IDH1/2, ATRX, and TP53 mutations within a single clone of “dual-genotype” IDH-mutant infiltrating gliomas Yazar: Zepeda-Mendoza, Cinthya J., Vaubel, Rachael A., Zarei, Shabnam, Ida, Cristiane M., Matthews, Martin, Acree, Sara, Raghunathan, Aditya, Giannini, Caterina, Jenkins, Robert B.

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An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I Yazar: Zepeda-Mendoza, Cinthya J., Cousin, Margot A., Basu, Shubham, Jenkinson, Garrett, Oliver, Gavin, Pittock, Siobhan T., Baughn, Linda B., Klee, Eric W., Babovic-Vuksanovic, Dusica

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Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia Yazar: Zepeda‐Mendoza, Cinthya J., Essendrup, Anna, Smoley, Stephanie A., Johnson, Sarah H., Hoppman, Nicole L, Vasmatzis, George, Jackson, Daniel L., Kearney, Hutton M., Baughn, Linda B.

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Identical repeated backbone of the human genome Yazar: Zepeda-Mendoza, Cinthya J, Lemus, Tzitziki, Yáñez, Omar, García, Delfino, Valle-García, David, Meza-Sosa, Karla F, Gutiérrez-Arcelus, María, Márquez-Ortiz, Yamile, Domínguez-Vidaña, Rocío, Gonzaga-Jauregui, Claudia, Flores, Margarita, Palacios, Rafael

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Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay Yazar: Schilit, Samantha LP, Currall, Benjamin B, Yao, Ruen, Hanscom, Carrie, Collins, Ryan L, Pillalamarri, Vamsee, Lee, Dong-Young, Kammin, Tammy, Zepeda-Mendoza, Cinthya J, Mononen, Tarja, Nolan, Lisa S, Gusella, James F, Talkowski, Michael E, Shen, Jun, Morton, Cynthia C

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Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases Yazar: Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W., Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica

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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Yazar: Zepeda-Mendoza, Cinthya J., Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J., Rita, Debra, Gripp, Karen W., MacKenzie, Jennifer J., Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S., Brasington, Campbell K., Spence, Edward J., Masser-Frye, Diane, Bird, Lynne M., Spiegel, Erica, Sparkes, Rebecca L., Ordulu, Zehra, Talkowski, Michael E., Andrade-Navarro, Miguel A., Robinson, Peter N., Morton, Cynthia C.

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Role of SWI/SNF in acute leukemia maintenance and enhancer-mediated Myc regulation Yazar: Shi, Junwei, Whyte, Warren A., Zepeda-Mendoza, Cinthya J., Milazzo, Joseph P., Shen, Chen, Roe, Jae-Seok, Minder, Jessica L., Mercan, Fatih, Wang, Eric, Eckersley-Maslin, Melanie A., Campbell, Amy E., Kawaoka, Shinpei, Shareef, Sarah, Zhu, Zhu, Kendall, Jude, Muhar, Matthias, Haslinger, Christian, Yu, Ming, Roeder, Robert G., Wigler, Michael H., Blobel, Gerd A., Zuber, Johannes, Spector, David L., Young, Richard A., Vakoc, Christopher R.

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Loss of LDAH associated with prostate cancer and hearing loss Yazar: Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C

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Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss Yazar: Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C

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The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies Yazar: Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

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