Resultats de la cerca - Everman, David B

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges per Kaufmann, Walter E., Stallworth, Jennifer L., Everman, David B., Skinner, Steven A.

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A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes per Gershlick, David C, Ishida, Morié, Jones, Julie R, Bellomo, Allison, Bonifacino, Juan S, Everman, David B

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Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes per Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M

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Functional characterization of tissue-specific enhancers in the DLX5/6 locus per Birnbaum, Ramon Y., Everman, David B., Murphy, Karl K., Gurrieri, Fiorella, Schwartz, Charles E., Ahituv, Nadav

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The FU gene and its possible protein isoforms per Østerlund, Torben, Everman, David B, Betz, Regina C, Mosca, Monica, Nöthen, Markus M, Schwartz, Charles E, Zaphiropoulos, Peter G, Toftgård, Rune

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Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe ampl... per Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin

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RIT1 oncoproteins escape LZTR1-mediated proteolysis per Castel, Pau, Cheng, Alice, Cuevas-Navarro, Antonio, Everman, David B., Papageorge, Alex G., Simanshu, Dhirendra K., Tankka, Alexandra, Galeas, Jacqueline, Urisman, Anatoly, McCormick, Frank

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A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes per Kurt, Bulent, Jaeken, Jaak, Van Hove, Johan, Lagae, Lieven, Löfgren, Ann, Everman, David B., Jayakar, Parul, Naini, Ali, Wierenga, Klaas J., Van Goethem, Gert, Copeland, William C., DiMauro, Salvatore

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17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD) per Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M, Everman, David B, Graham, Gail E

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The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function per Proietti Onori, Martina, Koopal, Balwina, Everman, David B., Worthington, Jessica D., Jones, Julie R., Ploeg, Melissa A., Mientjes, Edwin, van Bon, Bregje W., Kleefstra, Tjitske, Schulman, Howard, Kushner, Steven A., Küry, Sébastien, Elgersma, Ype, van Woerden, Geeske M.

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MEF2C hypofunction in neuronal and neuroimmune populations produces MEF2C haploinsufficiency syndrome-like behaviors in mice per Harrington, Adam J., Bridges, Catherine M., Berto, Stefano, Blankenship, Kayla, Cho, Jennifer Y., Assali, Ahlem, Siemsen, Benjamin M., Moore, Hannah W., Tsvetkov, Evgeny, Thielking, Acadia, Konopka, Genevieve, Everman, David B., Scofield, Michael D., Skinner, Steven A., Cowan, Christopher W.

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Coding exons function as tissue-specific enhancers of nearby genes per Birnbaum, Ramon Y., Clowney, E. Josephine, Agamy, Orly, Kim, Mee J., Zhao, Jingjing, Yamanaka, Takayuki, Pappalardo, Zachary, Clarke, Shoa L., Wenger, Aaron M., Nguyen, Loan, Gurrieri, Fiorella, Everman, David B., Schwartz, Charles E., Birk, Ohad S., Bejerano, Gill, Lomvardas, Stavros, Ahituv, Nadav

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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele per Radhakrishna, Uppala, Nath, Swapan K, McElreavey, Ken, Ratnamala, Uppala, Sun, Celi, Maiti, Amit K, Gagnebin, Maryline, Béna, Frédérique, Newkirk, Heather L, Sharp, Andrew J, Everman, David B, Murray, Jeffrey C, Schwartz, Charles E, Antonarakis, Stylianos E, Butler, Merlin G

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia per Zambonin, Jessica L., Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Dudding-Byth, Tracy, Boycott, Kym M.

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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome per Bend, Eric G., Aref-Eshghi, Erfan, Everman, David B., Rogers, R. Curtis, Cathey, Sara S., Prijoles, Eloise J., Lyons, Michael J., Davis, Heather, Clarkson, Katie, Gripp, Karen W., Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A., Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J., Stevenson, Roger E., Schwartz, Charles E., Sadikovic, Bekim

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder per Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Weimin, Bi, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian, Pfundt, Rolph, Hiatt, Susan M., Cooper, Gregory M., Holder, Jimmy L., Scott, Daryl A.

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Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis per Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon

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A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome per Lindhurst, Marjorie J., Sapp, Julie C., Teer, Jamie K., Johnston, Jennifer J., Finn, Erin M., Peters, Kathryn, Turner, Joyce, Cannons, Jennifer L., Bick, David, Blakemore, Laurel, Blumhorst, Catherine, Brockmann, Knut, Calder, Peter, Cherman, Natasha, Deardorff, Matthew A., Everman, David B., Golas, Gretchen, Greenstein, Robert M., Kato, B. Maya, Keppler-Noreuil, Kim M., Kuznetsov, Sergei A., Miyamoto, Richard T., Newman, Kurt, Ng, David, O’Brien, Kevin, Rothenberg, Steven, Schwartzentruber, Douglas J., Singhal, Virender, Tirabosco, Roberto, Upton, Joseph, Wientroub, Shlomo, Zackai, Elaine H., Hoag, Kimberly, Whitewood-Neal, Tracey, Robey, Pamela G., Schwartzberg, Pamela L., Darling, Thomas N., Tosi, Laura L., Mullikin, James C., Biesecker, Leslie G.

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Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants per Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.

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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size per Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, Harlan De Crescenzo, Angelo, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan K C, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

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