Search Results - "Beaudet, A L"

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications by Gillentine, M. A., Berry, L. N., Goin-Kochel, R. P., Ali, M. A., Ge, J., Guffey, D., Rosenfeld, J. A., Hannig, V., Bader, P., Proud, M., Shinawi, M., Graham, B. H., Lin, A., Lalani, S. R., Reynolds, J., Chen, M., Grebe, T., Minard, C. G., Stankiewicz, P., Beaudet, A. L., Schaaf, C. P.

“…Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3…”
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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders by Ben-Shachar, S, Lanpher, B, German, J R, Qasaymeh, M, Potocki, L, Nagamani, S C Sreenath, Franco, L M, Malphrus, A, Bottenfield, G W, Spence, J E, Amato, S, Rousseau, J A, Moghaddam, B, Skinner, C, Skinner, S A, Bernes, S, Armstrong, N, Shinawi, M, Stankiewicz, P, Patel, A, Cheung, S-W, Lupski, J R, Beaudet, A L, Sahoo, T

“…Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and…”
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Autism in Angelman syndrome: implications for autism research by Peters, SU, Beaudet, AL, Madduri, N, Bacino, CA

“…Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, ataxia, and a happy/sociable disposition. Maternally, but…”
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Identification of incestuous parental relationships by SNP-based DNA microarrays by Schaaf, CP, Scott, DA, Wiszniewska, J, Beaudet, AL

“…Disabilities are known to be frequent in children born of incestuous parentage.3 An increasing number of clinical arrays are partly or completely SNPbased…”
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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH by Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.

“…The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype–phenotype correlations have been found but all…”
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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data by Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.

“…Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay,…”
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Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome by Tsai, Ting-Fen, Jiang, Yong-hui, Bressler, Jan, Armstrong, Dawna, Beaudet, Arthur L.

“…Prader-Willi syndrome (PWS) is caused by paternal deficiency of human chromosome 15q11–q13. There is conflicting evidence from human translocations regarding…”
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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders by Shaw, C J, Shaw, C A, Yu, W, Stankiewicz, P, White, L D, Beaudet, A L, Lupski, J R

“…Background: Proximal chromosome 17p is a region rich in low copy repeats (LCRs) and prone to chromosomal rearrangements. Four genomic disorders map within the…”
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Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity by Schiedner, Gudrun, Morral, Núria, Parks, Robin J, Wu, Ying, Koopmans, Suzanne C, Langston, Claire, Graham, Frank L, Beaudet, Arthur L, Kochanek, Stefan

“…Many applications for human gene therapy would be facilitated by high levels and long duration of physiologic gene expression. Adenoviral vectors are…”
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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene ( UBE3A ) in Angelman syndrome by Matsuura, Toshinobu, Sutcliffe, James S, Fang, Ping, Galjaard, Robert-Jan, Jiang, Yong-hui, Benton, Claudia S, Rommens, Johanna M, Beaudet, Arthur L

“…Angelman syndrome (AS) is associated with maternal deletions of human chromosome 15q11-q13 and with paternal uniparental disomy for this region indicating that…”
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Inflammatory and Immune Responses are Impaired in Mice Deficient in Intercellular Adhesion Molecule 1 by Sligh, James E., Ballantyne, Christie M., Rich, Susan S., Hawkins, Hal K., Smith, C. Wayne, Bradley, Alan, Beaudet, Arthur L.

“…Gene targeting was used to produce mice deficient in intercellular adhesion molecule 1 (ICAM-1) or CD54, an immunoglobulin-like cell adhesion molecule that…”
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Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo by Jung, U, Norman, K E, Scharffetter-Kochanek, K, Beaudet, A L, Ley, K

“…Leukocyte recruitment requires leukocyte rolling, activation, firm adhesion, and transmigration. Injection of the proinflammatory cytokine TNF-alpha induces…”
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Imprinted expression of the murine Angelman syndrome gene, Ube3a , in hippocampal and Purkinje neurons by Albrecht, Urs, Sutcliffe, James S, Cattanach, Bruce M, Beechey, Colin V, Armstrong, Dawna, Eichele, Gregor, Beaudet, Arthur L

“…Angelman syndrome (AS) is a human genetic disorder characterized by mental retardation, seizures, inappropriate laughter, abnormal galt, tremor and ataxia…”
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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology by Dindot, Scott V., Antalffy, Barbara A., Bhattacharjee, Meenakshi B., Beaudet, Arthur L.

“…Loss of function of the maternally inherited allele for the UBE3A ubiquitin ligase gene causes Angelman syndrome (AS), which is characterized by severe…”
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Sequential contribution of L- and P-selectin to leukocyte rolling in vivo by Ley, K, Bullard, D C, Arbonés, M L, Bosse, R, Vestweber, D, Tedder, T F, Beaudet, A L

“…Leukocyte recruitment into inflammatory sites is initiated by a reversible transient adhesive contact with the endothelium called leukocyte rolling, which is…”
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Genetics of Angelman Syndrome by Jiang, Yong-hui, Lev-Lehman, Efrat, Bressler, Jan, Tsai, Ting-Fen, Beaudet, Arthur L.

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Adult-onset combined methylmalonic aciduria and homocystinuria (cblC) by BODAMER, O. A. F, ROSENBLATT, D. S, APPEL, S. H, BEAUDET, A. L

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Decreased Resistance to Bacterial Infection and Granulocyte Defects in IAP-Deficient Mice by Lindberg, Frederik P., Bullard, Daniel C., Caver, Tony E., Gresham, Hattie D., Beaudet, Arthur L., Brown, Eric J.

“…Granulocyte [polymorphonuclear leucocyte (PMN)] migration to sites of infection and subsequent activation is essential for host defense. Gene-targeted mice…”
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1998 ASHG presidential address. Making genomic medicine a reality by Beaudet, A L

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Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors by Pastore, L, Morral, N, Zhou, H, Garcia, R, Parks, R J, Kochanek, S, Graham, F L, Lee, B, Beaudet, A L

“…Previous studies using adenoviral (Ad) vectors expressing human alpha1-antitrypsin (hAAT) under the control of ubiquitous promoters (RSV, mPGK) elicited the…”
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