Search Results - "Caluseriu, O."

NSD1 mutations generate a genome-wide DNA methylation signature by Choufani, S., Cytrynbaum, C., Chung, B. H. Y., Turinsky, A. L., Grafodatskaya, D., Chen, Y. A., Cohen, A. S. A., Dupuis, L., Butcher, D. T., Siu, M. T., Luk, H. M., Lo, I. F. M., Lam, S. T. S., Caluseriu, O., Stavropoulos, D. J., Reardon, W., Mendoza-Londono, R., Brudno, M., Gibson, W. T., Chitayat, D., Weksberg, R.

“…Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome…”
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Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants by Siu, M T, Butcher, D T, Turinsky, A L, Cytrynbaum, C, Stavropoulos, D J, Walker, S, Caluseriu, O, Carter, M, Lou, Y, Nicolson, R, Georgiades, S, Szatmari, P, Anagnostou, E, Scherer, S W, Choufani, S, Brudno, M, Weksberg, R

“…Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (>…”
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Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras by Trakmulkichkarn, T., Ghadiry‐Tavi, R., Fruitman, D., Niederhoffer, K. Y., Caluseriu, O., Lauzon, J. L., Wewala, G., Hornberger, L. K., Urschel, S., Conway, J., McBrien, A.

“…ABSTRACT Objective To assess the rate and type of genetic diagnosis and clinical outcome of cases of fetal cardiomyopathy (CM) during two eras, in order to…”
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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype by Bramswig, Nuria C., Caluseriu, O., Lüdecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D.

“…Chromatin remodeling is a complex process shaping the nucleosome landscape, thereby regulating the accessibility of transcription factors to regulatory regions…”
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Schizophrenia in an adult with 6p25 deletion syndrome by Caluseriu, O., Mirza, G., Ragoussis, J., Chow, E.W.C., MacCrimmon, D., Bassett, A.S.

“…Chromosomal deletions at 6p25‐p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a…”
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A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability by Caluseriu, O, Di Gregorio, C, Lucci-Cordisco, E, Santarosa, M, Trojan, J, Brieger, A, Benatti, P, Pedroni, M, Colibazzi, T, Bellacosa, A, Neri, G, Ponz de Leon, M, Viel, A, Genuardi, M

“…[...]a 4 bp duplication (TGTT) occurring at the same base position, and therefore causing similar changes of the MLH1 protein, has been previously identified…”
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Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer by Caluseriu, Oana, Cordisco, Emanuela Lucci, Viel, Alessandra, Majore, Silvia, Nascimben, Riccardo, Pucciarelli, Salvatore, Genuardi, Maurizio

“…Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by mutations of genes encoding for proteins of the mismatch repair (MMR) machinery. The majority of…”
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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M

“…Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as…”
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability by Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Sutton, Vernon R., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, Retterer, Kyle, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Pichurin, Pavel N., Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.

“…Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is…”
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Clinical features of 78 adults with 22q11 deletion syndrome by Bassett, Anne S., Chow, Eva W.C., Husted, Janice, Weksberg, Rosanna, Caluseriu, Oana, Webb, Gary D., Gatzoulis, Michael A.

“…22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with multisystem expression. Phenotypic features vary with age, ascertainment, and…”
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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome by Weksberg, Rosanna, Shuman, Cheryl, Caluseriu, Oana, Smith, Adam C., Fei, Yan-Ling, Nishikawa, Joy, Stockley, Tracy L., Best, Lyle, Chitayat, David, Olney, Ann, Ives, Elizabeth, Schneider, Adele, Bestor, Timothy H., Li, Madeline, Sadowski, Paul, Squire, Jeremy

“…Beckwith–Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor predisposition and other congenital abnormalities, and is usually associated…”
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Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome by Bassett, Anne S, Caluseriu, Oana, Weksberg, Rosanna, Young, Donald A, Chow, Eva W.C

“…Background Catechol-O-methyl transferase (COMT) is a candidate gene for schizophrenia with a role in dopamine metabolism, particularly in frontal cortex. COMT…”
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Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1 by Weksberg, R, Nishikawa, J, Caluseriu, O, Fei, Y L, Shuman, C, Wei, C, Steele, L, Cameron, J, Smith, A, Ambus, I, Li, M, Ray, P N, Sadowski, P, Squire, J

“…Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome associated with…”
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Renal abnormalities in Beckwith-Wiedemann syndrome are associated with 11p15.5 uniparental disomy by GOLDMAN, Michael, SMITH, Adam, ROSENBLUM, Norman D, SHUMAN, Cheryl, CALUSERIU, Oana, CHIHONG WEI, STEELE, Leslie, RAY, Peter, SADOWSKI, Paul, SQUIRE, Jeremy, WEKSBERG, Rosanna

“…Beckwith-Wiedemann syndrome (BWS) is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihyperplasia and…”
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Clozapine-associated seizures in a 22Q deletion syndrome subtype of schizophrenia by Caluseriu, O., Tayyeb, T., Chow, E., Bassett, A.S.

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Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer by Lucci-Cordisco, E, Rovella, V, Carrara, S, Percesepe, A, Pedroni, M, Bellacosa, A, Caluseriu, O, Forasarig, M, Anti, M, Neri, G, Ponz de Leon, M, Viel, A, Genuardi, M

“…Mutations of the mismatch repair (MMR) genes MLH1 and MSH2 are associated with hereditary nonpolyposis colorectal cancer (HNPCC), a highly penetrant autosomal…”
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Schizophrenia in an adult with 6p25 deletion syndrome by Caluseriu, O., Mirza, G., Ragoussis, J., Chow, E.W.C., MacCrimmon, D., Bassett, A.S.

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