Search Results - "Magoulas, P"

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? by Nowaczyk, M.J.M., Thompson, B.A., Zeesman, S., Moog, U., Sanchez-Lara, P.A., Magoulas, P.L., Falk, R.E., Hoover-Fong, J.E., Batista, D.A.S., Amudhavalli, S.M., White, S.M., Graham, G.E., Rauen, K.A.

“…RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen‐activated protein kinase (Ras/MAPK) pathway components…”
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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness by Hanchard, NA, Murdock, DR, Magoulas, PL, Bainbridge, M, Muzny, D, Wu, YQ, Wang, M, McGuire, AL, Lupski, JR, Gibbs, RA, Brown, CW

“…The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical…”
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations by Probst, F J, James, R A, Burrage, L C, Rosenfeld, J A, Bohan, T P, Ward Melver, C H, Magoulas, P, Austin, E, Franklin, A I A, Azamian, M, Xia, F, Patel, A, Bi, W, Bacino, C, Belmont, J W, Ware, S M, Shaw, C, Cheung, S W, Lalani, S R

“…Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs). In our…”
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations by Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske

“…Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of…”
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P.382Recessive COL12A1 loss of function EDS/myopathy overlap syndrome: confirmation and expansion of a consistently severe phenotype by Neuhaus, S., Konersman, C., Saade, D., Donkervoort, S., Ceulemans, S., Magoulas, P., Skalsky, A., Friedman, J., Malicki, D., Bainbridge, M., Shimul, C., Nahas, S., Dimmock, D., Kingsmore, S., Gleeson, J., Lotze, T., Foley, A., Bönnemann, C.

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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives by Darilek, Sandra, Ward, Patricia, Pursley, Amber, Plunkett, Katie, Furman, Patti, Magoulas, Pilar, Patel, Ankita, Cheung, Sau Wai, Eng, Christine M.

“…Recently, a new genetic test has been developed that allows a more detailed examination of the genome when compared with a standard chromosome analysis. Array…”
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Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management by Lin, Angela E., Basson, Craig T., Goldmuntz, Elizabeth, Magoulas, Pilar L., McDermott, Deborah A., McDonald-McGinn, Donna M., McPherson, Elspeth, Morris, Colleen A., Noonan, Jacqueline, Nowak, Catherine, Pierpont, Mary Ella, Pyeritz, Reed E., Rope, Alan F., Zackai, Elaine, Pober, Barbara R.

“…Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with…”
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Effect of Urea on Hydrogen Bonding in Some Dicarboxylic Acids by Levy, Milton, Magoulas, John P

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