Search Results - "Nikkel, SM"

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy by Roberts, JD, Herkert, JC, Rutberg, J, Nikkel, SM, Wiesfeld, ACP, Dooijes, D, Gow, RM, van Tintelen, JP, Gollob, MH

“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease that predominantly affects the right ventricle and is associated with…”
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care by Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

“…An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome…”
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes by Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.

“…Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with…”
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Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders by Batkovskyte, Dominyka, McKenzie, Fiona, Taylan, Fulya, Simsek‐Kiper, Pelin Ozlem, Nikkel, Sarah M, Ohashi, Hirofumi, Stevenson, Roger E, Ha, Thuong, Cavalcanti, Denise P, Miyahara, Hiroyuki, Skinner, Steven A, Aguirre, Miguel A, Akçören, Zühal, Utine, Gulen Eda, Chiu, Tillie, Shimizu, Kenji, Hammarsjö, Anna, Boduroglu, Koray, Moore, Hannah W, Louie, Raymond J, Arts, Peer, Merrihew, Allie N, Babic, Milena, Jackson, Matilda R, Papadogiannakis, Nikos, Lindstrand, Anna, Nordgren, Ann, Barnett, Christopher P, Scott, Hamish S, Chagin, Andrei S, Nishimura, Gen, Grigelioniene, Giedre

“…ABSTRACT Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare…”
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Executive function deficits in children with fetal alcohol spectrum disorders (FASD) measured using the Cambridge Neuropsychological Tests Automated Battery (CANTAB) by Green, C.R., Mihic, A.M., Nikkel, S.M., Stade, B.C., Rasmussen, C., Munoz, D.P., Reynolds, J.N.

“…Background:  Chronic prenatal alcohol exposure causes a spectrum of deleterious effects in offspring, collectively termed fetal alcohol spectrum disorders…”
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Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His by Nikkel, S.M., Ahmed, A., Smith, A., Marcadier, J., Bulman, D.E., Boycott, K.M.

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Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2 -related disorders by Batkovskyte, D, McKenzie, F, Taylan, F, Simsek-Kiper, PO, Nikkel, SM, Ohashi, H, Miyahara, H, Eriksson, G, Ha, T, Utine, GE, Chiu, T, Shimizu, K, Hammarsjo, A, Boduroglu, K, Arts, P, Babic, M, Jackson, MR, Papadogiannakis, N, Lindstrand, A, Nordgren, A, Barnett, CP, Scott, HS, Chagin, AS, Nishimura, G, Grigelioniene, G

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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder by Carter, MT, Nikkel, SM, Fernandez, BA, Marshall, CR, Noor, A, Lionel, AC, Prasad, A, Pinto, D, Joseph-George, AM, Noakes, C, Fairbrother-Davies, C, Roberts, W, Vincent, J, Weksberg, R, Scherer, SW

“…Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph‐George AM, Noakes C, Fairbrother‐Davies C, Roberts W, Vincent J,…”
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Whole-exome sequencing expands the phenotype of Hunter syndrome by Nikkel, S.M., Huang, L., Lachman, R., Beaulieu, C.L., Schwartzentruber, J., Majewski, J., Geraghty, M.T., Boycott, K.M.

“…Whole‐exome sequencing (WES) has proven its utility in finding novel genes associated with rare conditions and its usefulness is being further demonstrated in…”
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Further delineation of Kabuki syndrome in 48 well-defined new individuals by Armstrong, Linlea, Moneim, Azza Abd El, Aleck, Kirk, Aughton, David J., Baumann, Clarisse, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Graham Jr, John M., Grebe, Theresa A., Gripp, Karen W., Hall, Bryan D., Hennekam, Raoul, Hunter, Alasdair, Keppler-Noreuil, Kim, Lacombe, Didier, Lin, Angela E., Ming, Jeffrey E., Kokitsu-Nakata, Nancy Mizue, Nikkel, Sarah M., Philip, Nicole, Raas-Rothschild, Annick, Sommer, Annemarie, Verloes, Alain, Walter, Claudia, Wieczorek, Dagmar, Williams, Marc S., Zackai, Elaine, Allanson, Judith E.

“…Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study of Kabuki syndrome had two objectives. The first was to further…”
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A century later Farabee has his mutation by McCready, M Elizabeth, Grimsey, Allison, Styer, Timothy, Nikkel, Sarah M, Bulman, Dennis E

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Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome by Verloes, Alain, Bitoun, Pierre, Heuskin, Anne, Amrom, Dina, Van de Broeck, Hilde, Nikkel, Sarah M., Chudley, Albert E., Prasad, Asuri N., Rusu, Cristina, Covic, Mircea, Toutain, Annick, Moraine, Claude, Parisi, Melissa A., Patton, Michael, Martin, Jean-Jacques, Van Thienen, Marie-Noelle

“…We report on nine unrelated children fitting a diagnosis of Carey–Fineman–Ziter syndrome (CFZS). All children presented with Möbius sequence, Pierre Robin…”
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History of genetics through philately - deafness by Nikkel, SM, Chudley, AE

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