Search Results - "BRUETON, Louise"

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature by Rice, Gillian I, Kasher, Paul R, Forte, Gabriella M A, Mannion, Niamh M, Greenwood, Sam M, Szynkiewicz, Marcin, Dickerson, Jonathan E, Bhaskar, Sanjeev S, Zampini, Massimiliano, Briggs, Tracy A, Jenkinson, Emma M, Bacino, Carlos A, Battini, Roberta, Bertini, Enrico, Brogan, Paul A, Brueton, Louise A, Carpanelli, Marialuisa, De Laet, Corinne, de Lonlay, Pascale, del Toro, Mireia, Desguerre, Isabelle, Fazzi, Elisa, Garcia-Cazorla, Àngels, Heiberg, Arvid, Kawaguchi, Masakazu, Kumar, Ram, Lin, Jean-Pierre S-M, Lourenco, Charles M, Male, Alison M, Marques, Wilson, Mignot, Cyril, Olivieri, Ivana, Orcesi, Simona, Prabhakar, Prab, Rasmussen, Magnhild, Robinson, Robert A, Rozenberg, Flore, Schmidt, Johanna L, Steindl, Katharina, Tan, Tiong Y, van der Merwe, William G, Vanderver, Adeline, Vassallo, Grace, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Livingston, John H, Lebon, Pierre, Suzuki, Tamio, McLaughlin, Paul J, Keegan, Liam P, O'Connell, Mary A, Lovell, Simon C, Crow, Yanick J

“…Yanick Crow and colleagues show that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome, accompanied by upregulation of…”
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Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth by Nieminen, Pekka, Morgan, Neil V., Fenwick, Aimée L., Parmanen, Satu, Veistinen, Lotta, Mikkola, Marja L., van der Spek, Peter J., Giraud, Andrew, Judd, Louise, Arte, Sirpa, Brueton, Louise A., Wall, Steven A., Mathijssen, Irene M.J., Maher, Eamonn R., Wilkie, Andrew O.M., Kreiborg, Sven, Thesleff, Irma

“…Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation…”
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response by Bodemer, Christine, Vanderver, Adeline, Bertini, Enrico, Hamel, Ben C J, van der Knaap, Marjo S, Heiberg, Arvid, Orcesi, Simona, Tan, Tiong Y, Lagae, Lieven, Manfield, Iain W, Whittaker, Elizabeth, Lamb, Teresa, Gornall, Hannah, Cazorla, Angels Garcia, Rice, Gillian I, Hunter, Matthew, Shalev, Stavit A, Marom, Daphna, Rasmussen, Magnhild, Desguerre, Isabelle, Crow, Yanick J, Lourenco, Charles M, Bonthron, David T, Ali, Manir, Fuller, Jonathan C, Soler, Doriette M, Bond, Jacquelyn, Jackson, Richard M, Couthard, Lydia R, Wakeling, Emma L, Gener, Blanca, Brockmann, Knut, Landrieu, Pierre G, Fazzi, Elisa, Carr, Ian M, van der Merwe, William, Shinawi, Marwan, Kumar, Ram, Spiegel, Ronen, Briggs, Tracy A, Attard-Montalto, Simon P, Asipu, Aruna, Brueton, Louise A, Wassmer, Evangeline, Brunette, Rebecca L, Lebon, Pierre, Stetson, Daniel B, McDermott, Michael F, Aeby, Alec, Corry, Peter C, Prendiville, Julie S

“…Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and…”
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria by Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T

“…NMDA receptor agonists have been used for many years to generate animal models of polymicrogyria, a malformation of cortical development. Fry et al. identify…”
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Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies by Lim, Derek, Bowdin, Sarah C., Tee, Louise, Kirby, Gail A., Blair, Edward, Fryer, Alan, Lam, Wayne, Oley, Christine, Cole, Trevor, Brueton, Louise A., Reik, Wolf, Macdonald, Fiona, Maher, Eamonn R.

“…BACKGROUND Beckwith–Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5…”
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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome by Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

“…Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus…”
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A survey of assisted reproductive technology births and imprinting disorders by Bowdin, Sarah, Allen, Cathy, Kirby, Gail, Brueton, Louise, Afnan, Masoud, Barratt, Christopher, Kirkman-Brown, Jackson, Harrison, Robert, Maher, Eamonn R, Reardon, William

“…BACKGROUND Genomic imprinting is an epigenetic process in which allele-specific gene expression is dependent on the parental inheritance. Although only a…”
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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome by Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.

“…Multiple pterygium syndromes (MPSs) comprise a group of multiple-congenital-anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or…”
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CHRNG genotype-phenotype correlations in the multiple pterygium syndromes by Vogt, Julie, Morgan, Neil V, Rehal, Pauline, Faivre, Laurence, Brueton, Louise A, Becker, Kristin, Fryns, Jean-Pierre, Holder, Sue, Islam, Lily, Kivuva, Emma, Lynch, Sally Ann, Touraine, Renaud, Wilson, Louise C, MacDonald, Fiona, Maher, Eamonn R

“…Germline mutations in the CHRNG gene that encodes the γ subunit of the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) or the…”
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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder by Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.

“…Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors…”
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A Novel GPR56 Mutation Causes Bilateral Frontoparietal Polymicrogyria by Luo, Rong, PhD, Yang, Hye Min, BS, Jin, Zhaohui, MD, Halley, Dicky J.J., MD, Chang, Bernard S., MD, MacPherson, Lesley, MD, Brueton, Louise, MD, Piao, Xianhua, MD PhD

“…Abstract Bilateral frontoparietal polymicrogyria is an autosomal recessive inherited human brain malformation with abnormal cortical lamination. The affected…”
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The tale of a nail sign in chromosome 4q34 deletion syndrome by Vogt, Julie, Ryan, Ethel, Tischkowitz, Marc D., Reardon, William, Brueton, Louise A.

“…Relatively few reports of deletions involving the distal long arm of chromosome 4 (4q) exist. Five further cases are described and the findings are compared…”
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Griscelli syndrome type 1: a report of two cases and review of the literature by Thomas, Ellen R., Walker, Lisa J., Pullaperuma, Sunil, Cooper, Beatrice, Brueton, Louise A., Basile, Geneviéve de Saint, Suri, Mohnish, Brady, Angela F.

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Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome by Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C.M., Scambler, Peter J.

“…Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the…”
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Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1 by Zeng, Wen‐Qi, Gao, Hanlin, Brueton, Louise, Hutchin, Tim, Gray, George, Chakrapani, Anupam, Olpin, Simon, Shih, Vivian E.

“…We report on the first case of fumarase deficiency (FD) caused by uniparental isodisomy. An affected patient was found to be homozygous for the P131R mutation…”
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Progressive multilayered banded skin in Winchester syndrome by Sidwell, Rachel U, Brueton, Louise A, Grabczynska, Sophie A, Francis, Nick, Staughton, Robert C.D

“…Winchester syndrome is a rare genetic disorder, one of the inherited osteolysis disorders which are a group of diseases characterized by destruction and…”
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First Genomic Localization of Oculo-Oto-Dental Syndrome with Linkage To Chromosome 20q13.1 by Vieira, Helena, Gregory-Evans, Kevin, Lim, Natasha, Brookes, John L, Brueton, Louise A, Gregory-Evans, Cheryl Y

“…To characterize the phenotype of autosomal dominant oculo-oto-dental (OOD) syndrome, map the disease locus in a five-generation British family, and evaluate a…”
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TBX5 intragenic duplication: a family with an atypical Holt―Oram syndrome phenotype by PATEL, Chirag, SILCOCK, Lee, MCMULLAN, Dominic, BRUETON, Louise, COX, Helen

“…Holt-Oram syndrome (HOS) is a rare autosomal dominant heart-hand syndrome due to mutations in the TBX5 transcription factor. Affected individuals can have…”
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Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients by Santen, Gijs W.E., Aten, Emmelien, Vulto-van Silfhout, Anneke T., Pottinger, Caroline, van Bon, Bregje W.M., van Minderhout, Ivonne J.H.M., Snowdowne, Ronelle, van der Lans, Christian A.C., Boogaard, Merel, Linssen, Margot M.L., Vijfhuizen, Linda, van der Wielen, Michiel J.R., Vollebregt, M.J. (Ellen), Breuning, Martijn H., Kriek, Marjolein, van Haeringen, Arie, den Dunnen, Johan T., Hoischen, Alexander, Clayton-Smith, Jill, de Vries, Bert B.A., Hennekam, Raoul C.M., van Belzen, Martine J., Almureikhi, Mariam, Baban, Anwar, Barbosa, Mafalda, Ben-Omran, Tawfeg, Berry, Katherine, Bigoni, Stefania, Boute, Odile, Brueton, Louise, van der Burgt, Ineke, Canham, Natalie, Chandler, Kate E., Chrzanowska, Krystyna, Collins, Amanda L., de Toni, Teresa, Dean, John, den Hollander, Nicolette S., Flore, Leigh Anne, Fryer, Alan, Gardham, Alice, Graham Jr, John M., Harrison, Victoria, Horn, Denise, Jongmans, Marjolijn C., Josifova, Dragana, Kant, Sarina G., Kapoor, Seema, Kingston, Helen, Kini, Usha, Kleefstra, Tjitske, Krajewska-Walasek, Małgorzata, Kramer, Nancy, Maas, Saskia M., Maciel, Patricia, Mancini, Grazia M.S., Maystadt, Isabelle, McKee, Shane, Milunsky, Jeff M., Nampoothiri, Sheela, Newbury-Ecob, Ruth, Nikkel, Sarah M., Parker, Michael J., Pérez-Jurado, Luis A., Robertson, Stephen P., Rooryck, Caroline, Shears, Debbie, Silengo, Margherita, Singh, Ankur, Smigiel, Robert, Soares, Gabriela, Splitt, Miranda, Stewart, Helen, Sweeney, Elizabeth, Tassabehji, May, Tuysuz, Beyhan, van Eerde, Albertien M., Vincent-Delorme, Catherine, Wilson, Louise C., Yesil, Gozde

“…De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS),…”
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Diversity of neuromuscular pathology in lethal multiple pterygium syndrome by Cox, Phillip M, Brueton, Louise A, Bjelogrlic, Predrag, Pomroy, Penelope, Sewry, Caroline A

“…Lethal multiple pterygium syndrome (LMPS) is an uncommon fetal-onset disorder of unknown etiology. The pathogenesis of LMPS has been suggested to be…”
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