Resultados de búsqueda - Bicknell, Louise

Quantifying single nucleotide variant detection sensitivity in exome sequencing por Meynert, Alison M, Bicknell, Louise S, Hurles, Matthew E, Jackson, Andrew P, Taylor, Martin S

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Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 por Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.

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SET Nuclear Oncogene Associates with Microcephalin/MCPH1 and Regulates Chromosome Condensation por Leung, Justin W., Leitch, Andrea, Wood, Jamie L., Shaw-Smith, Charles, Metcalfe, Kay, Bicknell, Louise S., Jackson, Andrew P., Chen, Junjie

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Rare variants of the 3’-5’ DNA exonuclease TREX1 in early onset small vessel stroke por McGlasson, Sarah, Rannikmäe, Kristiina, Bevan, Steven, Logan, Clare, Bicknell, Louise S., Jury, Alexa, Jackson, Andrew P., Markus, Hugh S., Sudlow, Cathie, Hunt, David P.J.

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Cerebral organoids model human brain development and microcephaly por Lancaster, Madeline A., Renner, Magdalena, Martin, Carol-Anne, Wenzel, Daniel, Bicknell, Louise S., Hurles, Matthew E., Homfray, Tessa, Penninger, Josef M., Jackson, Andrew P., Knoblich, Juergen A.

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Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome por Knapp, Karen M, Sullivan, Rosie, Murray, Jennie, Gimenez, Gregory, Arn, Pamela, D'Souza, Precilla, Gezdirici, Alper, Wilson, William G, Jackson, Andrew P, Ferreira, Carlos, Bicknell, Louise S

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A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss por Pagnamenta, Alistair T, Murray, Jennie E, Yoon, Grace, Akha, Elham Sadighi, Harrison, Victoria, Bicknell, Louise S, Ajilogba, Kaseem, Stewart, Helen, Kini, Usha, Taylor, Jenny C, Keays, David A, Jackson, Andrew P, Knight, Samantha JL

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Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome por Llorens-Agost, Marta, Luessing, Janna, van Beneden, Amandine, Eykelenboom, John, O’Reilly, Dawn, Bicknell, Louise S, Reynolds, John J, van Koegelenberg, Marianne, Hurles, Matthew E, Brady, Angela F, Jackson, Andrew P, Stewart, Grant S, Lowndes, Noel F

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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency por Knapp, Karen M., Jenkins, Danielle E., Sullivan, Rosie, Harms, Frederike L., von Elsner, Leonie, Ockeloen, Charlotte W., de Munnik, Sonja, Bongers, Ernie M. H. F., Murray, Jennie, Pachter, Nicholas, Denecke, Jonas, Kutsche, Kerstin, Bicknell, Louise S.

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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity por Blakes, Alexander J. M., Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M., Bicknell, Louise S., Jackson, Meremaihi R., Wade, Emma M., Robertson, Stephen, White, Susan M., Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G. L.

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Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes por Huang-Doran, Isabel, Bicknell, Louise S., Finucane, Francis M., Rocha, Nuno, Porter, Keith M., Tung, Y.C. Loraine, Szekeres, Ferenc, Krook, Anna, Nolan, John J., O’Driscoll, Mark, Bober, Michael, O’Rahilly, Stephen, Jackson, Andrew P., Semple, Robert K.

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Biallelic variants in DNA2 cause microcephalic primordial dwarfism por Tarnauskaitė, Žygimantė, Bicknell, Louise S., Marsh, Joseph A., Murray, Jennie E., Parry, David A., Logan, Clare V., Bober, Michael B., de Silva, Deepthi C., Duker, Angela L., Sillence, David, Wise, Carol, Jackson, Andrew P., Murina, Olga, Reijns, Martin A. M.

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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism por Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.

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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis por Martin, Carol-Anne, Murray, Jennie E., Carroll, Paula, Leitch, Andrea, Mackenzie, Karen J., Halachev, Mihail, Fetit, Ahmed E., Keith, Charlotte, Bicknell, Louise S., Fluteau, Adeline, Gautier, Philippe, Hall, Emma A., Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B., Duker, Angela, Wise, Carol A., Quigley, Alan J., Phadke, Shubha R., Wood, Andrew J., Vagnarelli, Paola, Jackson, Andrew P.

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Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis por Martin, Carol-Anne, Murray, Jennie E., Carroll, Paula, Leitch, Andrea, MacKenzie, Karen J., Halachev, Mihail, Fetit, Ahmed E., Keith, Charlotte, Bicknell, Louise S., Fluteau, Adeline, Gautier, Philippe, Hall, Emma A., Joss, Shelagh, Soares, Gabriela, Silva, João, Bober, Michael B., Duker, Angela, Wise, Carol A., Quigley, Alan J., Phadke, Shubha R., Wood, Andrew J., Vagnarelli, Paola, Jackson, Andrew P.

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB por Bicknell, Louise S, Farrington‐Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al‐Madani, Navid, Firth, Helen, Karimi‐Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean‐Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P

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CEP152 is a genome maintenance protein disrupted in Seckel syndrome por Kalay, Ersan, Yigit, Gökhan, Aslan, Yakup, Brown, Karen E, Pohl, Esther, Bicknell, Louise S, Kayserili, Hülya, Li, Yun, Tüysüz, Beyhan, Nürnberg, Gudrun, Kiess, Wieland, Koegl, Manfred, Baessmann, Ingelore, Buruk, Kurtulus, Toraman, Bayram, Kayipmaz, Saadettin, Kul, Sibel, Ikbal, Mevlit, Turner, Daniel J, Taylor, Martin S, Aerts, Jan, Scott, Carol, Milstein, Karen, Dollfus, Helene, Wieczorek, Dagmar, Brunner, Han G, Hurles, Matthew, Jackson, Andrew P, Rauch, Anita, Nürnberg, Peter, Karagüzel, Ahmet, Wollnik, Bernd

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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P

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Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome por Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.

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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes por Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L

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