Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome von DAS, Bibhuti B, NAGARAJ, Anasuya, FAYEMI, Ayodeji, RAJEGOWDA, Benamanahalli K, GIAMPIETRO, Philip E

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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosa... von Liu, Jiaqi, Wu, Nan, Yang, Nan, Takeda, Kazuki, Chen, Weisheng, Li, Weiyu, Du, Renqian, Liu, Sen, Zhou, Yangzhong, Zhang, Ling, Liu, Zhenlei, Zuo, Yuzhi, Zhao, Sen, Blank, Robert, Pehlivan, Davut, Dong, Shuangshuang, Zhang, Jianguo, Shen, Jianxiong, Si, Nuo, Wang, Yipeng, Liu, Gang, Li, Shugang, Zhao, Yanxue, Zhao, Hong, Chen, Yixin, Zhao, Yu, Song, Xiaofei, Hu, Jianhua, Lin, Mao, Tian, Ye, Yuan, Bo, Yu, Keyi, Niu, Yuchen, Yu, Bin, Li, Xiaoxin, Chen, Jia, Yan, Zihui, Zhu, Qiankun, Meng, Xiaolu, Chen, Xiaoli, Su, Jianzhong, Zhao, Xiuli, Wang, Xiaoyue, Ming, Yue, Li, Xiao, Raggio, Cathleen L., Zhang, Baozhong, Weng, Xisheng, Zhang, Shuyang, Zhang, Xue, Watanabe, Kota, Matsumoto, Morio, Jin, Li, Shen, Yiping, Sobreira, Nara L., Posey, Jennifer E., Giampietro, Philip F., Valle, David, Liu, Pengfei, Wu, Zhihong, Ikegawa, Shiro, Lupski, James R., Zhang, Feng, Qiu, Guixing

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A dyadic approach to the delineation of diagnostic entities in clinical genomics von 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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Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28 von Friez, Michael J, Jones, Julie R, Clarkson, Katie, Lubs, Herbert, Abuelo, Dianne, Bier, Jo-Ann Blaymore, Pai, Shashidhar, Simensen, Richard, Williams, Charles, Giampietro, Philip F, Schwartz, Charles E, Stevenson, Roger E

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Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections von PANNU, Hariyadarshi, FADULU, Van Tran, SHETE, Sanjay, WILLING, Marcia C, RAMAN, C. S, MILEWICZ, Dianna M, CHANG, Jessica, LAFONT, Andrea, HASHAM, Sumera N, SPARKS, Elizabeth, GIAMPIETRO, Philip F, ZALESKI, Christina, ESTRERA, Anthony L, SAFI, Hazim J

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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects von Petit, Florence, Longoni, Mauro, Wells, Julie, Maser, Richard S., Bogenschutz, Eric L., Dysart, Matthew J., Contreras, Hannah T.M., Frénois, Frederic, Pober, Barbara R., Clark, Robin D., Giampietro, Philip F., Ropers, Hilger H., Hu, Hao, Loscertales, Maria, Wagner, Richard, Ai, Xingbin, Brand, Harrison, Jourdain, Anne-Sophie, Delrue, Marie-Ange, Gilbert-Dussardier, Brigitte, Devisme, Louise, Keren, Boris, McCulley, David J., Qiao, Lu, Hernan, Rebecca, Wynn, Julia, Scott, Tiana M., Calame, Daniel G., Coban-Akdemir, Zeynep, Hernandez, Patricia, Hernandez-Garcia, Andres, Yonath, Hagith, Lupski, James R., Shen, Yufeng, Chung, Wendy K., Scott, Daryl A., Bult, Carol J., Donahoe, Patricia K., High, Frances A.

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Clinical genetics provider real-time workflow study von McPherson, Elizabeth, Zaleski, Christina, Benishek, Katrina, McCarty, Catherine A., Giampietro, Philip F., Reynolds, Kara, Rasmussen, Kristen

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Effect of rosuvastatin in patients with chronic heart failure (the GISSI-HF trial): a randomised, double-blind, placebo-controlled trial von Tavazzi, Luigi, Maggioni, Aldo P, Marchioli, Roberto, Barlera, Simona, Franzosi, Maria Grazia, Latini, Roberto, Lucci, Donata, Nicolosi, Gian Luigi, Porcu, Maurizio, Tognoni, Gianni

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A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations von Ghebranious, Nader, Blank, Robert D, Raggio, Cathleen L, Staubli, Justin, McPherson, Elizabeth, Ivacic, Lynn, Rasmussen, Kristen, Jacobsen, F Stig, Faciszewski, Thomas, Burmester, James K, Pauli, Richard M, Boachie‐Adjei, Oheneba, Glurich, Ingrid, Giampietro, Philip F

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Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes von Asai-Coakwell, Mika, French, Curtis R., Ye, Ming, Garcha, Kamal, Bigot, Karin, Perera, Anoja G., Staehling-Hampton, Karen, Mema, Silvina C., Chanda, Bhaskar, Mushegian, Arcady, Bamforth, Steven, Doschak, Michael R., Li, Guang, Dobbs, Matthew B., Giampietro, Philip F., Brooks, Brian P., Vijayalakshmi, Perumalsamy, Sauvé, Yves, Abitbol, Marc, Sundaresan, Periasamy, van Heyningen, Veronica, Pourquié, Olivier, Underhill, T. Michael, Waskiewicz, Andrew J., Lehmann, Ordan J.

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Prognostic Impact of Diabetes and Prediabetes on Survival Outcomes in Patients With Chronic Heart Failure: A Post‐Hoc Analysis of the GISSI‐HF (Gruppo Italiano per lo Studio della... von Targher, Giovanni, Nicolosi, Gian Luigi, Latini, Roberto, Cosmi, Franco, Maggioni, Aldo Pietro, Franzosi, Maria Grazia, Bartolomei, Barbara, Ledda, Antonietta, Rusconi, Franco, Bambi, Filippo, Bianchini, Francesca, Cocchio, Michele, Gianfriddo, Marco, Vasamì, Antonella, Gaita, F., Delucchi, M., De Marchi, M., Grosu, A., Arisi, S., Bortolini, F., Turelli, A., Jemoli, R., Tettamanti, F., Pirelli, S., Mariani, M., Granata, A., Lissi, C., Negrini, M., Campana, C., Pozzoni, L., Bisiani, G., Margaroli, P., Breghi, M., Tarantini, L., Zanchetta, M., Casolino, P., Corbara, F., Barbiero, M., Girardi, P., Cesanelli, R., Piazza, R., Longaro, F., Fioretti, P., Albanese, M.C., Pozzati, A., Brega, G., Pancaldi, L.G., Tartagni, F., Tisselli, A., Galvani, M., Bonfiglioli, A., Brugioni, L., Rusconi, L., Petrone, P., Cosmi, D., Comella, A., Mantini, G., Barsotti, L., Baldini, P., Severini, D., Buccolieri, M., Perna, G.P., Moretti, L., Savini, E., Antonicoli, S., Giorgi, G., Comito, F., Acquaviva, A., Testa, G., Avallone, A., Pulignano, G., Ferraiuolo, G., Matteucci, C., Leone, F., Frasca, F., Di Giovambattista, R., Massaro, G., Miceli, D., Russo, L., Capuano, N., Vergara, G., Campaniello, C., Petraglia, L., Franchini, G., Russo, M., Mascolo, A.R., Pettinati, G., Carrone, M., Gallone, V., Correra, M., Villella, M., Peluso, A., Vigna, L., Russo, R., Arone, A., Leonardi, G., Randazzo, V., Prestifilippo, P., Lo Presti, L., Meloni, G.

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The cardiokine secreted Frizzled‐related protein 3, a modulator of Wnt signalling, in clinical and experimental heart failure von Askevold, E. T., Aukrust, P., Nymo, S. H., Lunde, I. G., Kaasbøll, O. J., Aakhus, S., Florholmen, G., Ohm, I. K., Strand, M. E., Attramadal, H., Fiane, A., Dahl, C. P., Finsen, A. V., Vinge, L. E., Christensen, G., Yndestad, A., Gullestad, L., Latini, R., Masson, S., Tavazzi, L., Ueland, T.

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Response to Hamosh et al von 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, Jr, 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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An analysis of PAX1 in the development of vertebral malformations von Giampietro, PF, Raggio, CL, Reynolds, CE, Shukla, SK, McPherson, E, Ghebranious, N, Jacobsen, FS, Kumar, V, Faciszewski, T, Pauli, RM, Rasmussen, K, Burmester, JK, Zaleski, C, Merchant, S, David, D, Weber, JL, Glurich, I, Blank, RD

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Assessment of bone mineral density in adults and children with Marfan syndrome von GIAMPIETRO, Philip F, PETERSON, Margaret, SCHNEIDER, Robert, DAVIS, Jessica G, RAGGIO, Cathleen, MYERS, Elizabeth, BURKE, Stephen W, BOACHIE-ADJEI, Oheneba, MUELLER, Charles M

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Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome von Stewart, Douglas R., Huang, Alina, Faravelli, Francesca, Anderlid, Britt-Marie, Medne, Livija, Ciprero, Karen, Kaur, Maninder, Rossi, Elena, Tenconi, Romano, Nordenskjöld, Magnus, Gripp, Karen W., Nicholson, Linda, Meschino, Wendy S., Capua, Esther, Quarrell, Oliver W.J., Flint, Jonathon, Irons, Mira, Giampietro, Philip F., Schowalter, David B., Zaleski, Christina A., Malacarne, Michela, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D.

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Clinical genetics provider real-time workflow study von McPherson, Elizabeth, Zaleski, Christina, Benishek, Katrina, McCarty, Catherine A., Giampietro, Philip F., Reynolds, Kara, Rasmussen, Kristen

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Robinow syndrome with variable neurologic features von McPherson, Elizabeth, Zaleski, Christina, Giampietro, Philip F.

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A study of visuospatial working memory pre- and post-Gonadotropin Hormone Releasing Hormone agonists (GnRHa) in young women von Craig, Michael C., Fletcher, Paul C., Daly, Eileen M., Picchioni, Marco M., Brammer, Mick, Giampietro, Vincent, Rymer, Janice, McGuire, Philip K., Maki, Pauline M., Murphy, Declan G.M.

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Clinical Geneticists' Views of VACTERLNATER Association von SOLOMON, Benjamin D, BEAR, Kelly A, KIMONIS, Virginia, DE KLEIN, Annelies, SCOTT, Daryl A, SHAW-SMITH, Charles, TIBBOEL, Dick, REUTTER, Heiko, GIAMPIETRO, Philip F

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