Resultados da busca - Kerr, Bronwyn

Prominent Lower‐Limb Involvement in a Family with Myoclonus‐Dystonia por Kobylecki, Christopher, Damodaran, Dinesh, Kerr, Bronwyn, Newton, Richard W., Silverdale, Monty A.

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Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... por Vrečar, Irena, Innes, Josie, Jones, Elizabeth A., Kingston, Helen, Reardon, William, Kerr, Bronwyn, Clayton-Smith, Jill, Douzgou, Sofia

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Cardio-facio-cutaneous syndrome: Does genotype predict phenotype? por Allanson, Judith E, Annerén, Göran, Aoki, Yoki, Armour, Christine M, Bondeson, Marie-Louise, Cave, Helene, Gripp, Karen W, Kerr, Bronwyn, Nystrom, Anna-Maja, Sol-Church, Katia, Verloes, Alain, Zenker, Martin

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The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type por Nishimura, Gen, Nakashima, Eiji, Hirose, Yuichiro, Cole, Trevor, Cox, Phillip, Cohn, Daniel H, Rimoin, David L, Lachman, Ralph S, Miyamoto, Yoshinari, Kerr, Bronwyn, Unger, Sheila, Ohashi, Hirofumi, Superti‐Furga, Andrea, Ikegawa, Shiro

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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly por Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline

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Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val por Burkitt-Wright, Emma MM, Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne PM, Gannon, Caroline, Firth, Helen V, Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F, Turnpenny, Peter D, Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn

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Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations por Madhu, Rajesh, Beaman, Glenda M., Chandler, Kate E., O'Sullivan, James, Urquhart, Jill E., Khan, Naz, Martindale, Elizabeth, Briggs, Tracy A., Clayton-Smith, Jill, Higgs, Jenny, Batra, Gauri, Kerr, Bronwyn, Woolf, Adrian S., Newman, William G.

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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families por Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, Gardner, RJ McKinlay, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi

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Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease por Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.

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Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 por Suri, Mohnish, Evers, Jochem M. G., Laskowski, Roman A., O'Brien, Sinead, Baker, Kate, Clayton‐Smith, Jill, Dabir, Tabib, Josifova, Dragana, Joss, Shelagh, Kerr, Bronwyn, Kraus, Alison, McEntagart, Meriel, Morton, Jenny, Smith, Audrey, Splitt, Miranda, Thornton, Janet M., Wright, Caroline F.

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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome por Neumann, Thomas E, Allanson, Judith, Kavamura, Ines, Kerr, Bronwyn, Neri, Giovanni, Noonan, Jacqueline, Cordeddu, Viviana, Gibson, Kate, Tzschach, Andreas, Krüger, Gabriele, Hoeltzenbein, Maria, Goecke, Timm O, Kehl, Hans Gerd, Albrecht, Beate, Luczak, Klaudiusz, Sasiadek, Maria M, Musante, Luciana, Laurie, Rohan, Peters, Hartmut, Tartaglia, Marco, Zenker, Martin, Kalscheuer, Vera

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders por Faundes, Víctor, Newman, William G., Bernardini, Laura, Canham, Natalie, Clayton-Smith, Jill, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Gill, Harinder, Horton, Rachel, Kerr, Bronwyn, Kumar, Dhavendra, Lehman, Anna, McKee, Shane, Morton, Jenny, Parker, Michael J., Rankin, Julia, Robertson, Lisa, Temple, I. Karen, Banka, Siddharth

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Costello syndrome: Clinical phenotype, genotype, and management guidelines por Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.

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Mutations in HPSE2 Cause Urofacial Syndrome por Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

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Mutations in HPSE2 Cause Urofacial Syndrome por Daly, Sarah B., Urquhart, Jill E., Hilton, Emma, McKenzie, Edward A., Kammerer, Richard A., Lewis, Malcolm, Kerr, Bronwyn, Stuart, Helen, Donnai, Dian, Long, David A., Burgu, Berk, Aydogdu, Ozgu, Derbent, Murat, Garcia-Minaur, Sixto, Reardon, Willie, Gener, Blanca, Shalev, Stavit, Smith, Rupert, Woolf, Adrian S., Black, Graeme C., Newman, William G.

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Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline por Giannoulatou, Eleni, McVean, Gilean, Taylor, Indira B., McGowan, Simon J., Maher, Geoffrey J., Iqbal, Zamin, Pfeifer, Susanne P., Turner, Isaac, Burkitt Wright, Emma M. M., Shorto, Jennifer, Itani, Aysha, Turner, Karen, Gregory, Lorna, Buck, David, Rajpert-De Meyts, Ewa, Looijenga, Leendert H. J., Kerr, Bronwyn, Wilkie, Andrew O. M., Goriely, Anne

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Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues por Rauen, Katherine A., Huson, Susan M., Burkitt-Wright, Emma, Evans, D Gareth, Farschtschi, Said, Ferner, Rosalie E, Gutmann, David H., Hanemann, C Oliver, Kerr, Bronwyn, Legius, Eric, Parada, Luis F, Patton, Michael, Peltonen, Juha, Ratner, Nancy, Riccardi, Vincent M., van der Vaart, Thijs, Vikkula, Miikka, Viskochil, David H., Zenker, Martin, Upadhyaya, Meena

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Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome por Clayton-Smith, Jill, O'Sullivan, James, Daly, Sarah, Bhaskar, Sanjeev, Day, Ruth, Anderson, Beverley, Voss, Anne K., Thomas, Tim, Biesecker, Leslie G., Smith, Philip, Fryer, Alan, Chandler, Kate E., Kerr, Bronwyn, Tassabehji, May, Lynch, Sally-Ann, Krajewska-Walasek, Malgorzata, McKee, Shane, Smith, Janine, Sweeney, Elizabeth, Mansour, Sahar, Mohammed, Shehla, Donnai, Dian, Black, Graeme

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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders por Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia

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The Third International Meeting on Genetic Disorders in the RAS/MAPK Pathway: Toward a Therapeutic Approach por Korf, Bruce, Ahmadian, Reza, Allanson, Judith, Aoki, Yoko, Bakker, Annette, Wright, Emma Burkitt, Denger, Brian, Elgersma, Ype, Gelb, Bruce D., Gripp, Karen W., Kerr, Bronwyn, Kontaridis, Maria, Lazaro, Conxi, Linardic, Corinne, Lozano, Reymundo, MacRae, Calum A., Messiaen, Ludwine, Mulero-Navarro, Sonia, Neel, Benjamin, Plotkin, Scott, Rauen, Katherine A., Roberts, Amy, Silva, Alcino J., Sittampalam, Sitta G., Zhang, Chao, Schoyer, Lisa

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