Search Results - "Brzustowicz, L.M."

Child abuse and neglect, monoamine oxidase A, and mental health outcomes: a prospective examination by Nikulina, V, Widom, C.S, Brzustowicz, L.M

“…Conclusions This prospective study of documented cases of child abuse and neglect supports earlier research demonstrating an MAOA by child maltreatment…”
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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene by Tanzi, R.E, Petrukhin, K, Chernov, I, Pellequer, J.L, Wasco, W, Ross, B, Romano, D.M, Parano, E, Pavone, L, Brzustowicz, L.M, Devoto, M, Peppercorn, J, Bush, A.I, Sternlieb, I, Pirastu, M, Gusella, J.F, Evgrafov, O, Penchaszadeh, G.K, Honig, B, Edelman, I.S, Soares, M.B, Scheinberg, I.H, Gilliam, T.C

“…Wilson disease (WD) is an autosomal recessive disorder characterized by the toxic accumulation of copper in a number of organs, particularly the liver and…”
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Recent advances in the genetics of schizophrenia by Waterworth, D.M, Bassett, A.S, Brzustowicz, L.M

“…The genetic etiology of schizophrenia, a common and debilitating psychiatric disorder, is supported by a wealth of data. Review of the current findings…”
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Recent advances in the genetics of schizophrenia by Waterworth, D.M., Bassett, A.S., Brzustowicz, L.M.

“…The genetic etiology of schizophrenia, a common and debilitating psychiatric disorder, is supported by a wealth of data. Review of the current findings…”
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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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Use of a Quantitative Trait to Map a Locus Associated with Severity of Positive Symptoms in Familial Schizophrenia to Chromosome 6p by Brzustowicz, L.M., Honer, W.G., Chow, E.W.C., Hogan, J., Hodgkinson, K., Bassett, A.S.

“…A number of recent linkage studies have suggested the presence of a schizophrenia susceptibility locus on chromosome 6p. We evaluated 28 genetic markers,…”
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A posterior probability of linkage-based re-analysis of schizophrenia data yields evidence of linkage to chromosomes 1 and 17 by Logue, M W, Brzustowicz, L M, Bassett, A S, Chow, E W C, Vieland, V J

“…Linkage analysis using 22 Canadian pedigrees identified a promising schizophrenia candidate region on 1q23 with a maximum 2-point HLOD under a recessive model…”
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Molecular and statistical approaches to the detection and correction of errors in genotype databases by BRZUSTOWICZ, L. M, MERETTE, C, XIE, X, TOWNSEND, L, GILLIAM, T. C, OTT, J

“…Errors in genotyping data have been shown to have a significant effect on the estimation of recombination fractions in high-resolution genetic maps. Previous…”
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A susceptibility locus for schizophrenia on chromosome 6 using positive symptom scores as quantitative traits by Bassett, A.S., Honer, W.G., Chow, E., McAlduff, J., Hodgkinson, K.A., Kirkham, S.J., Brzustowicz, L.M.

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Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B by Soares, V M, Brzustowicz, L M, Kleyn, P W, Knowles, J A, Palmer, D A, Asokan, S, Penchaszadeh, G K, Munsat, T L, Gilliam, T C

“…The childhood-onset SMA locus has been mapped to chromosome 5q13, in a region bounded by the proximal locus, D5S6, and the closely linked distal loci, D5S112…”
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Mapping of Human Microtubule-Associated Protein 1B in Proximity to the Spinal Muscular Atrophy Locus at 5q13 by LIEN, L. L, BOYCE, F. M, KLEYN, P, BRZUSTOWICZ, L. M, MENNINGER, J, WARD, D. C, CONRAD GILLIAM, T, KUNKEL, L. M

“…polyclonal antiserum directed against the C-terminal domain of dystrophin was used to isolate a cDNA clone encoding an antigenically cross-reactive protein,…”
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Paternal isodisomy for chromosome 5 in a child with spinal muscular atropy by Brzustowicz, L.M., Penchaszadeh, G.K., Gilliam, T.C., Allitto, B.A., Theve, R., Michaud, L., Sugarman, E., Handelin, B.L., Chatkupt, S., Koenigsberger, M.R.

“…Paternal isodisomy for chromosomes 5 was detected in a 2-year-old boy with type III spinal muscular atrophy (SMA), an autosomal recessive degenerative disorder…”
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Linkage analysis of spinal muscular atrophy by Daniels, R J, Thomas, N H, MacKinnon, R N, Lehner, T, Ott, J, Flint, T J, Dubowitz, V, Ignatius, J, Donner, M, Zerres, K

“…Linkage data between four markers on chromosome 5 confirm and extend our previous studies that localized the mutation in spinal muscular atrophy to…”
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Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6 by Brzustowicz, L M, Kleyn, P W, Boyce, F M, Lien, L L, Monaco, A P, Penchaszadeh, G K, Das, K, Wang, C H, Munsat, T L, Ott, J

“…The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified…”
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Construction of a yeast artifical chromosome contig spanning the spinal muscular atrophy disease gene region by Kleyn, P.W., Wang, C.H., Vitale, E., Pan, J., Ross, B.M., Grunn, A., Palmer, D.A., Warburton, D., Brzustowicz, L.M., Gilliam, T.G., Lien, L.L., Kunkel, L.M.

“…The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of childhood second to Duchenne muscular dystrophy. A…”
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An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy by Mérette, C, Brzustowicz, L M, Daniels, R J, Davies, K E, Gilliam, T C, Melki, J, Munnich, A, Pericak-Vance, M A, Siddique, T, Voosen, B

“…We performed linkage analysis of 161 families with spinal muscular atrophy (SMA) in which affected individuals suffer from the intermediate or mild form of the…”
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Assessment of nonallelic genetic heterogeneity of chronic (type II and III) spinal muscular atrophy by Brzustowicz, L M, Mérette, C, Kleyn, P W, Lehner, T, Castilla, L H, Penchaszadeh, G K, Das, K, Munsat, T L, Ott, J, Gilliam, T C

“…We have previously reported the mapping of the chronic (type II/intermediate and type III/mild/Kugelberg-Welander) form of the childhood-onset spinal muscular…”
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Linkage mapping detects two secondary microdeletions in cell hybrid HHW1064, used to isolate DNA probes from within 5q11.2-->q13.3 by Bernard, L E, McPherson, J D, Wasmuth, J J, Kreklywich, C N, Brzustowicz, L M, Wood, S

“…The somatic cell hybrid HHW1064 contains a single human chromosome 5 with an interstitial deletion for 5q11.2-->q13.3. Twenty human clones were isolated by…”
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