Search Results - "DeStefano, A. L."

Common Variants in the 5′ Region of the Leptin Gene Are Associated with Body Mass Index in Men from the National Heart, Lung, and Blood Institute Family Heart Study by Jiang, Y., Wilk, J.B., Borecki, I., Williamson, S., DeStefano, A.L., Xu, G., Liu, J., Ellison, R.C., Province, M., Myers, R.H.

“…Linkage of body mass index (BMI) to a broad region of chromosome 7q22-35 has been reported in multiple studies. We previously published a multipoint LOD score…”
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BDNF genetic variants are associated with onset age of familial Parkinson disease : GenePD Study by KARAMOHAMED, S, LATOURELLE, J. C, GUTTMAN, M, NICHOLSON, G, WILK, J. B, SAINT-HILAIRE, M, DESTEFANO, A. L, PRAKASH, R, TOBIN, S, WILLIAMSON, J, SUCHOWERSKY, O, LABELL, N, RACETTE, B. A, GROWDON, B. N. J, SINGER, C, WATTS, R, GOLDWURM, S, PEZZOLI, G, BAKER, K. B, GIROUX, M. L, PRAMSTALLER, P. P, BURN, D. J, CHINNERY, P, PERLMUTTER, J. S, SHERMAN, S, VIEREGGE, P, LITVAN, I, GUSELLA, J. F, MYERS, R. H, PARSIAN, A, WOOTEN, G. F, LEW, M, KLEIN, C, SHILL, H, GOLBE, L. I, MARK, M. H

“…Brain-derived neurotrophic factor (BDNF) stimulates neuronal growth and protects nigral dopamine neurons in animal models of Parkinson disease (PD). Therefore,…”
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Herbicide exposure modifies GSTP1 haplotype association to parkinson onset age : The GenePD study by WILK, J. B, TOBIN, J. E, SINGER, C, GROWDON, J. H, LATOURELLE, J. C, SAINT-HILAIRE, M. H, DESTEFANO, A. L, PRAKASH, R, WILLIAMSON, S, BERG, C. J, SUN, M, GOLDWURM, S, SUCHOWERSKY, O, PEZZOLI, G, RACETTE, B. A, PERLMUTTER, J. S, PARSIAN, A, BAKER, K. B, GIROUX, M. L, LITVAN, I, PRAMSTALLER, P. P, NICHOLSON, G, BURN, D. J, SHILL, H. A, CHINNERY, P. F, VIEREGGE, P, SLEVIN, J. T, CAMBI, F, MACDONALD, M. E, GUSELLA, J. F, MYERS, R. H, GOLBE, L. I, KLEIN, C, WOOTEN, G. F, LEW, M. F, MARK, M. H, GUTTMAN, M, WATTS, R. L

“…Polymorphisms in the glutathione S-transferase pi gene (GSTP1), encoding GSTP1-1, a detoxification enzyme, may increase the risk of Parkinson disease (PD) with…”
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A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study by KARAMOHAMED, S, DESTEFANO, A. L, CURRIE, L. J, WOOTEN, G. F, STACY, M, SAINT-HILAIRE, M, FELDMAN, R. G, SULLIVAN, K. M, XU, G, WATTS, R, GROWDON, J, LEW, M, WILK, J. B, WATERS, C, VIEREGGE, P, PRAMSTALLER, P. P, KLEIN, C, RACETTE, B. A, PERLMUTTER, J. S, PARSIAN, A, SINGER, C, MONTGOMERY, E, BAKER, K, SHOEMAKER, C. M, GUSELLA, J. F, FINK, S. J, MYERS, R. H, HERBERT, A, GOLBE, L. I, MARK, M. H, LAZZARINI, A. M, SUCHOWERSKY, O, LABELLE, N, GUTTMAN, M

“…To identify a haplotype influencing onset age for Parkinson's disease (PD) in the PARK3 region on chromosome 2p13. Single nucleotide polymorphisms (SNP)…”
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Genome-wide scan for Parkinson's disease: The genePD Study by DESTEFANO, A. L, GOLBE, L. I, LAFONTAINE, A. L, LABELLE, N, LEW, M. F, WATERS, C. H, GROWDON, J. H, SINGER, C, CURRIE, L. J, WOOTEN, G. F, VIEREGGE, P, PRAMSTALLER, P. P, MARK, M. H, KLEIN, C, HUBBLE, J. P, STACY, M, MONTGOMERY, E, MACDONALD, M. E, GUSELLA, J. F, MYERS, R. H, LAZZARINI, A. M, MAHER, N. E, SAINT-HILAIRE, M, FELDMAN, R. G, GUTTMAN, M, WATTS, R. L, SUCHOWERSKY, O

“…A genome-wide scan for idiopathic PD in a sample of 113 PD-affected sibling pairs is reported. Suggestive evidence for linkage was found for chromosomes 1 (214…”
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Lettuce and rhizosphere microbiome responses to growth promoting Pseudomonas species under field conditions by Cipriano, Matheus A. P., Lupatini, Manoeli, Lopes-Santos, Lucilene, da Silva, Márcio J., Roesch, Luiz F. W., Destéfano, Suzete A. L., Freitas, Sueli S., Kuramae, Eiko E.

“…Plant growth promoting rhizobacteria are well described and recommended for several crops worldwide. However, one of the most common problems in research into…”
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The Alzheimer's Disease Sequencing Project: Study design and sample selection by Beecham, Gary W, Bis, J C, Martin, E R, Choi, S-H, DeStefano, A L, van Duijn, C M, Fornage, M, Gabriel, S B, Koboldt, D C, Larson, D E, Naj, A C, Psaty, B M, Salerno, W, Bush, W S, Foroud, T M, Wijsman, E, Farrer, L A, Goate, A, Haines, J L, Pericak-Vance, Margaret A, Boerwinkle, E, Mayeux, R, Seshadri, S, Schellenberg, G

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Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study by Karamohamed, Samer, Golbe, L.I., Mark, M.H., Lazzarini, A.M., Suchowersky, O., Labelle, N., Guttman, Mark, Currie, L.J., Wooten, G.F., Stacy, M., Saint-Hilaire, M., Feldman, R.G., Liu, J., Shoemaker, C.M., Wilk, J.B., DeStefano, A.L., Latourelle, J.C., Xu, G., Watts, R., Growdon, J., Lew, M., Waters, C., Vieregge, P., Pramstaller, P.P., Klein, C., Racette, B.A., Perlmutter, J.S., Parsian, A., Singer, Carlos, Montgomery, E., Baker, K., Gusella, J.F., Herbert, A., Myers, R.H.

“…Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of…”
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ATP5H/KCTD2 locus is associated with Alzheimer's disease risk by Boada, M, Antúnez, C, Ramírez-Lorca, R, DeStefano, A L, González-Pérez, A, Gayán, J, López-Arrieta, J, Ikram, M A, Hernández, I, Marín, J, Galán, J J, Bis, J C, Mauleón, A, Rosende-Roca, M, Moreno-Rey, C, Gudnasson, V, Morón, F J, Velasco, J, Carrasco, J M, Alegret, M, Espinosa, A, Vinyes, G, Lafuente, A, Vargas, L, Fitzpatrick, A L, Launer, L J, Sáez, M E, Vázquez, E, Becker, J T, López, O L, Serrano-Ríos, M, Tárraga, L, van Duijn, C M, Real, L M, Seshadri, S, Ruiz, A

“…To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in…”
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Correlation between CAG repeat length and clinical features in Machado-Joseph disease by MACIEL, P, GASPAR, C, NEZARATI, M. M, CORWIN, L. I, LOPES-CENDES, I, ROOKE, K, ROSENBERG, R, MACLEOD, P, FARRER, L. A, SEQUEIROS, J, ROULEAU, G. A, DESTEFANO, A. L, SILVEIRA, I, COUTINHO, P, RADVANY, J, DAWSON, D. M, SUDARSKY, L, GUIMARAES, J, LOUREIRO, J. E. L

“…Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene on 14q32.1. We confirmed the presence of this…”
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Maternal component in the familial aggregation of hypertension by DeStefano, AL, Gavras, H, Heard-Costa, N, Bursztyn, M, Manolis, A, Farrer, LA, Baldwin, CT, Gavras, I, Schwartz, F

“…To assess maternal versus paternal contributions to the familial aggregation of hypertension, we examined family history data from 344 hypertensive probands…”
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Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3 by BONNE-TAMIR, B, DESTEFANO, A. L, BRIGGS, C. E, ADAIR, R, FRANKLYN, B, WEISS, S, KOROSTISHEVSKY, M, FRYDMAN, M, BALDWIN, C. T, FARRER, L. A

“…Deafness is a heterogeneous trait affecting approximately 1/1,000 newborns. Genetic linkage studies have already implicated more than a dozen distinct loci…”
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Evidence for Linkage Between Essential Hypertension and a Putative Locus on Human Chromosome 17 by Baima, Jader, Nicolaou, Michael, Schwartz, Faina, DeStefano, Anita L, Manolis, Athanasios, Gavras, Irene, Laffer, Cheryl, Elijovich, Fernando, Farrer, Lindsay, Baldwin, Clinton T, Gavras, Haralambos

“…Several clinical and animal studies indicate that essential hypertension is inherited as a multifactorial trait with a significant genetic and environmental…”
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Genetic predisposition to stroke in relatives of hypertensives by NICOLAOU, M, DESTEFANO, A. L, GAVRAS, I, CUPPLES, L. A, MANOLIS, A. J, BALDWIN, C. T, GAVRAS, H, FARRER, L. A

“…The genetic basis of stroke is poorly understood. We evaluated patterns of familial aggregation of hypertension and stroke to test the hypothesis that…”
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Autosomal Dominant Orthostatic Hypotensive Disorder Maps to Chromosome 18q by DeStefano, Anita L., Baldwin, Clinton T., Burzstyn, Michael, Gavras, Irene, Handy, Diane E., Joost, Oscar, Martel, Timothy, Nicolaou, Michael, Schwartz, Faina, Streeten, David H.P., Farrer, Lindsay A., Gavras, Haralambos

“…Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle…”
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A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease by DESTEFANO, A. L, CUPPLES, L. A, SEQUEIROS, J, ROULEAU, G. A, FARRER, L. A, MACIEL, P, GASPAR, C, RADVANY, J, DAWSON, D. M, SUDARSKY, L, CORWIN, L, COUTINHO, P, MACLEOD, P

“…Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucleotide (CAG) repeat…”
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Bacterial leaf spot of coffee caused by Pseudomonas syringae pv. tabaci in Brazil by Destéfano, S.A.L, Rodrigues, L.M.R, Beriam, L.O.S, Patrício, F.R.A, Thomaziello, R.A, Rodrigues‐Neto, J

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Evidence for a Gene Influencing Blood Pressure on Chromosome 17: Genome Scan Linkage Results for Longitudinal Blood Pressure Phenotypes in Subjects From the Framingham Heart Study by Levy, Daniel, DeStefano, Anita L, Larson, Martin G, O’Donnell, Christopher J, Lifton, Richard P, Gavras, Haralambos, Cupples, L Adrienne, Myers, Richard H

“…Hypertension is a leading cause of morbidity and mortality. Efforts to identify hypertension genes have focused on 3 approachesmendelian disorders, candidate…”
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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations by DESTEFANO, A. L, CUPPLES, L. A, LALWANI, A. K, MILUNSKY, A, NANCE, W. E, PANDYA, A, RAMESAR, R. S, READ, A. P, TASSABEJHI, M, WILCOX, E. R, FARRER, L. A, ARNOS, K. S, ASHER, J. H, BALDWIN, C. T, BLANTON, S, CAREY, M. L, DA SILVA, E. O, FRIEDMAN, T. B, GREENBERG, J

“…Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and…”
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Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins by GASPAR, C, LOPES-CENDES, I, DESTEFANO, A. L, MACIEL, P, SILVEIRA, I, COUTINHO, P, MACLEOD, P, SEQUEIROS, J, FARRER, L. A, ROULEAU, G. A

“…Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration originally described in families of Portuguese-Azorean ancestry. The…”
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