Search Results - "Driscoll, D J"

The presentation, course and outcome of COVID-19 infection in people with Prader-Willi syndrome: unexpected findings from an international survey by Whittington, J E, Holland, A J, Driscoll, D J, Hodebeck-Stuntebeck, N, Hoctor, A

“…Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of…”
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Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis by Timur, A A, Driscoll, D J, Wang, Q

“…Vascular morphogenesis is a vital process for embryonic development, normal physiologic conditions (e.g. wound healing) and pathological processes (e.g…”
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Distinct phenotypes distinguish the molecular classes of Angelman syndrome by Lossie, A C, Whitney, M M, Amidon, D, Dong, H J, Chen, P, Theriaque, D, Hutson, A, Nicholls, R D, Zori, R T, Williams, C A, Driscoll, D J

“…BACKGROUND Angelman syndrome (AS) is a severe neurobehavioural disorder caused by defects in the maternally derived imprinted domain located on 15q11-q13. Most…”
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Satiety dysfunction in Prader-Willi syndrome demonstrated by fMRI by Shapira, N A, Lessig, M C, He, A G, James, G A, Driscoll, D J, Liu, Y

“…The neurobiology relating to the insatiable appetite observed in Prader-Willi syndrome (PWS) has not been fully characterised. Two functional magnetic…”
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A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome by Smilinich, Nancy J., Day, Colleen D., Fitzpatrick, Galina V., Caldwell, Germaine M., Lossie, Amy C., Cooper, P. R., Smallwood, Allan C., Joyce, Johanna A., Schofield, Paul N., Reik, Wolf, Nicholls, Robert D., Weksberg, Rosanna, Driscoll, D. J., Maher, Eamonn R., Shows, Thomas B., Higgins, Michael J.

“…Loss of imprinting at IGF2, generally through an H19-independent mechanism, is associated with a large percentage of patients with the overgrowth and cancer…”
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Klippel-Trenaunay syndrome: incidence and treatment of genitourinary sequelae by Husmann, D A, Rathburn, S R, Driscoll, D J

“…Prior reviews regarding genitourinary manifestations of Klippel-Trenaunay syndrome used data acquired from diverse specialty specific articles to define the…”
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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome by Ohta, T., Gray, T.A., Rogan, P.K., Buiting, K., Gabriel, J.M., Saitoh, S., Muralidhar, B., Bilienska, B., Krajewska-Walasek, M., Driscoll, D.J., Horsthemke, B., Butler, M.G., Nicholls, R.D.

“…Microdeletions of a region termed the “imprinting center” (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome…”
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Secondary organic aerosol formation from the oxidation of aromatic hydrocarbons in the presence of dry submicron ammonium sulfate aerosol by Kleindienst, T.E., Smith, D.F., Li, W., Edney, E.O., Driscoll, D.J., Speer, R.E., Weathers, W.S.

“…A laboratory study was conducted to examine formation of secondary organic aerosols. A smog chamber system was developed for studying gas–aerosol interactions…”
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Allele-specific replication timing of imprinted gene regions by Kitsberg, D, Selig, S, Brandels, M, Simon, I, Keshet, I, Driscoll, D. J, Nicholls, R. D, Cedar, H

“…Several lines of evidence suggest that the paternal and maternal genomes may have different expression patterns in the developing organism and this has been…”
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Klippel-Trénaunay syndrome: spectrum and management by Jacob, A G, Driscoll, D J, Shaughnessy, W J, Stanson, A W, Clay, R P, Gloviczki, P

“…To describe a series of 252 patients with Klippel-Trénaunay syndrome (KTS), a rare congenital malformation characterized by the triad of capillary…”
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Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints by Amos-Landgraf, James M., Ji, Yonggang, Gottlieb, Wayne, Depinet, Theresa, Wandstrat, Amy E., Cassidy, Suzanne B., Driscoll, Daniel J., Rogan, Peter K., Schwartz, Stuart, Nicholls, Robert D.

“…Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral disorders that most often arise from a 4-Mb deletion of chromosome…”
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Progression of familial and non-familial dilated cardiomyopathy: long term follow up by Michels, V V, Driscoll, D J, Miller, F A, Olson, T M, Atkinson, E J, Olswold, C L, Schaid, D J

“…Background: It is unknown whether progression of familial idiopathic dilated cardiomyopathy differs from progression in the non-familial form. It has been…”
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Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene by GLENN, C. C, SAITOH, S, JONG, M. T. C, FILBRANDT, M. M, URVASHI SURTI, DRISCOLL, D. J, NICHOLLS, R. D

“…The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the…”
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Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region by Jong, Michelle T. C., Carey, Alisoun H., Caldwell, Kim A., Lau, Michel H., Handel, Mary Ann, Driscoll, Daniel J., Stewart, Colin L., Rinchik, Eugene M., Nicholls, Robert D.

“…A novel locus in the human Prader-Willi syndrome (PWS) region encodes the imprinted ZNF127 and antisense ZNF127AS genes. Here, we show that the mouse ZNF127…”
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Task Force 2: special health care needs of adults with congenital heart disease by Foster, Elyse, Graham, Thomas P, Driscoll, David J, Reid, Graham J, Reiss, John G, Russell, Isobel A, Sermer, Matthew, Siu, Samuel C, Uzark, Karen, Williams, Roberta G, Webb, Gary D

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Long-term results of the Fontan operation by Driscoll, D J

“…Modifications of the Fontan operation can afford excellent palliation for many patients with a variety of forms of single ventricle. In properly selected…”
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Cardiovascular preparticipation screening of competitive athletes : A statement for health professionals from the Sudden Death Committee (clinical cardiology) and Congenital Cardiac Defects Committee (cardiovascular disease in the young), American Heart Association by MARON, B. J, THOMPSON, P. D, DRISCOLL, D. J, EPSTEIN, A. E, PUFFER, J. C, MCGREW, C. A, STRONG, W. B, DOUGLAS, P. S, CLARK, L. T, MITTEN, M. J, CRAWFORD, L. H, ATKINS, D. L

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Five- to fifteen-year follow-up after fontan operation by DRISCOLL, D. J, OFFORD, K. P, FELDT, R. H, SCHAFF, H. V, PUGA, F. J, DANIELSON, G. K

“…The purpose of this study was to estimate survival and quality of outcome and assess factors associated with outcome for patients out 5 to 15 years from their…”
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Syncope in Children and Adolescents by Driscoll, David J, Jacobsen, Steven J, Porter, Co-burn J, Wollan, Peter C

“…Objectives. The objectives of this study were to 1) define the incidence of syncope coming to medical attention among children and adolescents, 2) determine…”
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Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation by Ohta, T., Buiting, K., Kokkonen, H., McCandless, S., Heeger, S., Leisti, H., Driscoll, D.J., Cassidy, S.B., Horsthemke, B., Nicholls, R.D.

“…Patients with Angelman syndrome (AS) and Prader-Willi syndrome with mutations in the imprinting process have biparental inheritance but uniparental DNA…”
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