Search Results - "Weksberg, R"

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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Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development by Weksberg, Rosanna, Smith, Adam C., Squire, Jeremy, Sadowski, Paul

“…The Beckwith–Wiedemann syndrome (BWS) is characterized by somatic overgrowth and a predisposition to pediatric embryonal tumors. It is associated with genetic…”
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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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Unbalanced Placental Expression of Imprinted Genes in Human Intrauterine Growth Restriction by McMinn, J., Wei, M., Schupf, N., Cusmai, J., Johnson, E.B., Smith, A.C., Weksberg, R., Thaker, H.M., Tycko, B.

“…Imprinted genes control fetal and placental growth in mice and in rare human syndromes, but the role of these genes in sporadic intrauterine growth restriction…”
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EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines by Grafodatskaya, D., Choufani, S., Ferreira, J.C., Butcher, D.T., Lou, Y., Zhao, C., Scherer, S.W., Weksberg, R.

“…Recent research suggests that epigenetic alterations involving DNA methylation can be causative for neurodevelopmental, growth and metabolic disorders…”
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Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling by Hayeems, R. Z., Babul-Hirji, R., Hoang, N., Weksberg, R., Shuman, C.

“…Advances in genome-based microarray and sequencing technologies hold tremendous promise for understanding, better-managing and/or preventing disease 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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A distinct microvascular endothelial gene expression profile in severe IUGR placentas by Dunk, C.E, Roggensack, A.M, Cox, B, Perkins, J.E, Åsenius, F, Keating, S, Weksberg, R, Kingdom, J.C.P, Adamson, S.L

“…Abstract The placental microvasculature is essential for efficient transfer of gases, nutrients and waste between the mother and fetus. Microvascular…”
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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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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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The adult phenotype in Costello syndrome by White, Susan M., Graham Jr, J.M., Kerr, B., Gripp, K., Weksberg, R., Cytrynbaum, C., Reeder, J.L., Stewart, F.J., Edwards, M., Wilson, M., Bankier, A.

“…We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the…”
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An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster by Vincent, J B, Horike, SI, Choufani, S, Paterson, A D, Roberts, W, Szatmari, P, Weksberg, R, Fernandez, B, Scherer, S W

“…Introduction: We describe the case of two brothers diagnosed with autism who both carry a paracentic inversion of the short arm of chromosome 4 (46,XY,…”
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Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature by BOERKOEL, C. F, O'NEILL, S, FRÜND, S, GEARY, D. F, IESHIMA, A, ILLIES, F, JOSEPH, M. W, KAITILA, I, LAMA, G, LEHEUP, B, LUDMAN, M. D, MCLEOD, D. R, ANDRE, J. L, MEDEIRA, A, MILFORD, D. V, ORMÄLÄ, T, RENER-PRIMEC, Z, SANTAVA, A, SANTOS, H. G, SCHMIDT, B, SMITH, G. C, SPRANGER, J, ZUPANCIC, N, BENKE, P. J, WEKSBERG, R, BOGDANOVIC, R, BULLA, M, BURGUET, A, COCKFIELD, S, CORDEIRO, I, EHRICH, J. H. H

“…Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short…”
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Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5 by Du, Minjie, Beatty, Linda G., Zhou, Wenjing, Lew, Jocelyne, Schoenherr, Christopher, Weksberg, Rosanna, Sadowski, Paul D.

“…The imprinting of the genes on human chromosome 11p15.5 is thought to be controlled by two imprinting control regions located in two differentially methylated…”
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New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome by Smith, A C, Rubin, T, Shuman, C, Estabrooks, L, Aylsworth, A S, McDonald, M T, Steele, L, Ray, P N, Weksberg, R

“…Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome demonstrating heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The…”
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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease by Ruttledge, M H, Andermann, A A, Phelan, C M, Claudio, J O, Han, F Y, Chretien, N, Rangaratnam, S, MacCollin, M, Short, P, Parry, D, Michels, V, Riccardi, V M, Weksberg, R, Kitamura, K, Bradburn, J M, Hall, B D, Propping, P, Rouleau, G A

“…The gene predisposing to neurofibromatosis type 2 (NF2) on human chromosome 22 has revealed a wide variety of different mutations in NF2 individuals. These…”
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Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome by Brzustowicz, L.M., Farrell, S., Khan, M.B., Weksberg, R.

“…Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome with associated visceral and skeletal abnormalities. Alterations in the glypican-3…”
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Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development by Weksberg, R

“…Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth failure, immunodeficiency, and a predisposition to cancer. A variety of…”
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Vitamin D Supplementation in Pregnancy and Lactation and Infant Growth by Roth, Daniel E, Morris, Shaun K, Zlotkin, Stanley, Gernand, Alison D, Ahmed, Tahmeed, Shanta, Shaila S, Papp, Eszter, Korsiak, Jill, Shi, Joy, Islam, M. Munirul, Jahan, Ishrat, Keya, Farhana K, Willan, Andrew R, Weksberg, Rosanna, Mohsin, Minhazul, Rahman, Qazi S, Shah, Prakesh S, Murphy, Kellie E, Stimec, Jennifer, Pell, Lisa G, Qamar, Huma, Al Mahmud, Abdullah

“…In this double-blind, randomized trial in Bangladesh, maternal vitamin D supplementation from midpregnancy until birth or 6 months post partum did not improve…”
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Postmaturity in a genetic subtype of schizophrenia by Chow, E. W. C., Husted, J., Weksberg, R., Bassett, A. S.

“…Objective: To determine whether postmaturity (gestation > 41 weeks), small for gestational age (SGA), and other pregnancy and birth complications that may…”
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