תוצאות חיפוש - Wentzensen, Ingrid M

The Association of Telomere Length and Cancer: A Meta-Analysis מאת Wentzensen, Ingrid M., Mirabello, Lisa, Pfeiffer, Ruth M., Savage, Sharon A.

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Epidemiologic evidence for a role of telomere dysfunction in cancer etiology מאת Prescott, Jennifer, Wentzensen, Ingrid M., Savage, Sharon A., De Vivo, Immaculata

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Response to Androgen Therapy in Patients with Dyskeratosis Congenita מאת Khincha, Payal P., Wentzensen, Ingrid M., Giri, Neelam, Alter, Blanche P., Savage, Sharon A.

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Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly מאת Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G

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Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum מאת Ngoh, Adeline, McTague, Amy, Wentzensen, Ingrid M, Meyer, Esther, Applegate, Carolyn, Kossoff, Eric H, Batista, Denise A, Wang, Tao, Kurian, Manju A

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Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies מאת Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G

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Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome מאת Johnston, Jennifer J., Lee, Chanjae, Wentzensen, Ingrid M., Parisi, Melissa A., Crenshaw, Molly M., Sapp, Julie C., Gross, Jeffrey M., Wallingford, John B., Biesecker, Leslie G.

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Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg מאת Schmidt, Lindsey, Wain, Karen E., Hajek, Catherine, Estrada-Veras, Juvianee I., Guillen Sacoto, Maria J., Wentzensen, Ingrid M., Malhotra, Alka, Clause, Amanda, Perry, Denise, Moreno-De-Luca, Andres, Bell, Megan

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A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay מאת Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.

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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities מאת Bend, Renee, Cohen, Lior, Carter, Melissa T., Lyons, Michael J., Niyazov, Dmitriy, Mikati, Mohamad A., Rojas, Samantha K., Person, Richard E., Si, Yue, Wentzensen, Ingrid M., Torti, Erin, Lee, Jennifer A., Boycott, Kym M., Basel-Salmon, Lina, Ferreira, Carlos R., Gonzaga-Jauregui, Claudia

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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability מאת Pilarowski, Genay O., Vernon, Hilary J., Applegate, Carolyn D., Boukas, Leandros, Cho, Megan T., Gurnett, Christina A., Benke, Paul J., Beaver, Erin, Heeley, Jennifer M., Medne, Livija, Krantz, Ian D., Azage, Meron, Niyazov, Dmitriy, Henderson, Lindsay B., Wentzensen, Ingrid M., Baskin, Berivan, Guillen Sacoto, Maria J., Bowman, Gregory D., Bjornsson, Hans Tomas

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder מאת Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K(+) channelopathies מאת Gripp, Karen W., Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures מאת Stern, Diana, Cho, Megan T., Chikarmane, Rashmi, Willaert, Rebecca, Retterer, Kyle, Kendall, Fran, Deardorff, Matthew, Hopkins, Sarah, Bedoukian, Emma, Slavotinek, Anne, Vergano, Samantha Schrier, Spangler, Brooke, McDonald, Marie, McConkie-Rosell, Allyn, Burton, Barbara K., Kim, Katherine H., Oundjian, Nelly, Kronn, David, Chandy, Nandini, Baskin, Berivan, Guillen Sacoto, Maria J., Wentzensen, Ingrid M., McLaughlin, Heather M., McKnight, Dianalee, Chung, Wendy K.

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Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium מאת Mai, Phuong L., Malkin, David, Garber, Judy E., Schiffman, Joshua D., Weitzel, Jeffrey N., Strong, Louise C., Wyss, Oliver, Locke, Luana, Means, Von, Achatz, Maria Isabel, Hainaut, Pierre, Frebourg, Thierry, Evans, D. Gareth, Bleiker, Eveline, Patenaude, Andrea, Schneider, Katherine, Wilfond, Benjamin, Peters, June A., Hwang, Paul M., Ford, James, Tabori, Uri, Ognjanovic, Simona, Dennis, Phillip A., Wentzensen, Ingrid M., Greene, Mark H., Fraumeni, Joseph F., Savage, Sharon A.

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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study מאת Bowles, Bradley, Ferrer, Alejandro, Nishimura, Carla J., Pinto e Vairo, Filippo, Rey, Tristan, Leheup, Bruno, Sullivan, Jennifer, Schoch, Kelly, Stong, Nicholas, Agolini, Emanuele, Cocciadiferro, Dario, Williams, Abigail, Cummings, Alex, Loddo, Sara, Genovese, Silvia, Roadhouse, Chelsea, McWalter, Kirsty, Wentzensen, Ingrid M., Li, Chumei, Babovic‐Vuksanovic, Dusica, Lanpher, Brendan C., Dentici, Maria Lisa, Ankala, Arun, Hamm, J. Austin, Dallapiccola, Bruno, Radio, Francesca Clementina, Shashi, Vandana, Gérard, Benedicte, Bloch‐Zupan, Agnes, Smith, Richard J., Klee, Eric W.

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UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly מאת Schnur, Rhonda E., Yousaf, Sairah, Liu, James, Chung, Wendy K., Rhodes, Lindsay, Marble, Michael, Zambrano, Regina M., Sobreira, Nara, Jayakar, Parul, Pierpont, Mary Ella, Schultz, Matthew J., Pichurin, Pavel N., Olson, Rory J., Graham, Gail E., Osmond, Matthew, Contreras-García, Gustavo A., Campo-Neira, Karina A, Peñaloza-Mantilla, Camilo A., Flage, Mark, Kuppa, Srikar, Navarro, Karina, Sacoto, Maria J. Guillen, Wentzensen, Ingrid M., Scarano, Maria I., Juusola, Jane, Prada, Carlos E., Hufnagel, Robert B.

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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay מאת Hiatt, Susan M., Neu, Matthew B., Ramaker, Ryne C., Hardigan, Andrew A., Prokop, Jeremy W., Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K. C., Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D., Suchy, Sharon F., Willaert, Rebecca, Wentzensen, Ingrid M., Wheeler, Patricia G., Brick, Lauren, Kozenko, Mariya, Hurst, Anna C. E., Wheless, James W., Lacassie, Yves, Myers, Richard M., Barsh, Gregory S., Sedlacek, Zdenek, Cooper, Gregory M.

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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation מאת Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie

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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy מאת Lee, Yu-Ri, Khan, Kamal, Armfield-Uhas, Kim, Srikanth, Sujata, Thompson, Nicola A., Pardo, Mercedes, Yu, Lu, Norris, Joy W., Peng, Yunhui, Gripp, Karen W., Aleck, Kirk A., Li, Chumei, Spence, Ed, Choi, Tae-Ik, Kwon, Soo Jeong, Park, Hee-Moon, Yu, Daseuli, Heo, Won Do, Mooney, Marie R., Baig, Shahid M., Wentzensen, Ingrid M., Telegrafi, Aida, McWalter, Kirsty, Moreland, Trevor, Roadhouse, Chelsea, Ramsey, Keri, Lyons, Michael J., Skinner, Cindy, Alexov, Emil, Katsanis, Nicholas, Stevenson, Roger E., Choudhary, Jyoti S., Adams, David J., Kim, Cheol-Hee, Davis, Erica E., Schwartz, Charles E.

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