Search Results - "Yamaoka, L.H"

Neuropathological Features of Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17q21–22 (FTDP-17): Duke Family 1684 by Hulette, C M, Pericak-Vance, M A, Roses, A D, Schmechel, D E, Yamaoka, L H, Gaskell, P C, Welsh-Bohmer, K A, Crowther, R A, Spillantini, M G

“…Frontotemporal dementia with parkinsonism (FTDP-17) is an autosomal dominant disorder that presents clinically with dementia, extrapyramidal signs, and…”
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Complete Genomic Screen in Late-Onset Familial Alzheimer’s Disease by Pericak-Vance, M.A, Bass, M.L, Yamaoka, L.H, Gaskell, P.C, Scott, W.K, Terwedow, H.A, Menold, M.M, Conneally, P.M, Small, G.W, Saunders, A.M, Roses, A.D, Haines, J.L

“…Alzheimer’s disease (AD) is a complex genetic disorder. Linkage analysis has helped unravel a portion of the genetic component of AD by identifying four loci…”
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Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17 by Vance, J M, Nicholson, G A, Yamaoka, L H, Stajich, J, Stewart, C S, Speer, M C, Hung, W Y, Roses, A D, Barker, D, Pericak-Vance, M A

“…Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b)…”
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Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD) by GILBERT, J. R, STAJICH, J. M, ROZEAR, M, SAMSON, F, FARDEAU, M, ROSES, A. D, PERICAK-VANCE, M. A, WALL, S, CARTER, S. C, QIU, H, VANCE, J. M, STEWART, C. S, SPEER, M. C, PUFKY, J, YAMAOKA, L. H

“…Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive primary disease of muscle which is usually inherited as an autosomal dominant disorder…”
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Genetic linkage studies in Alzheimer's disease families by Pericak-Vance, M A, Yamaoka, L H, Haynes, C S, Speer, M C, Haines, J L, Gaskell, P C, Hung, W Y, Clark, C M, Heyman, A L, Trofatter, J A

“…Alzheimer's disease is a devastating neurological disorder and the leading cause of dementia among the elderly. Recent studies have localized the gene for…”
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No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians by Pritchard, M.L., Saunders, A.M., Gaskell, P.C., Small, G.W., Conneally, P.M., Rosi, B., Yamaoka, L.H., Roses, A.D., Haines, J.L., Pericak-Vance, M.A.

“…The very low density lipoprotein receptor gene (VLDL-R) is a receptor for apolipoprotein-ε (APOE)-containing lipoproteins, and thus has been suggested as a…”
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No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease by Scott, W.K., Yamaoka, L.H., Locke, P.A., Rosi, B.L., Gaskell, P.C., Saunders, A.M., Conneally, P.M., Small, G.W., Farrer, L.A., Growdon, J.H., Roses, A.D., Pericak-Vance, M.A., Haines, J.L.

“…Recent reports have shown an association between an intronic polymorphism of the presenilin‐1 (PSEN1) gene and late‐onset (age at onset > 65) familial and…”
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Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region by Jabs, E W, Li, X, Lovett, M, Yamaoka, L H, Taylor, E, Speer, M C, Coss, C, Cadle, R, Hall, B, Brown, K

“…Treacher Collins syndrome is an autosomal dominant, craniofacial developmental disorder, and its locus (TCOF1) has been mapped to chromosome 5q3. To refine the…”
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A dinucleotide repeat polymorphism in the human Na+,K+ ATPase, alpha subunit (ATP1A3) gene by Kazantsev, A., Yamaoka, L.H., Roses, A.D.

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A Stul polymorphism on chromosome 3p14.1 -14.2 (D3S622) defined by two polymorphic Stul sites 2.4 kb apart by Secore, S.L., Walker, A.P., Herbstreith, M.H., Siddique, T., Jeffers, A.J., DeShields, T.R., Speer, H.C., Pericak-Vance, M.A., Golembieski, W.A., Smith, D.I., Hung, W.Y., Yamaoka, L.H., Roses, A.D., Bartlett, R.J.

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RFLP for Duchenne muscular dystrophy cDNA clone 44-1 by LAING, N. G, SIDDIQUE, T, BARTLETT, R. J, YAMAOKA, L. H, CHEN, J. C, WALKER, A. P, HUNG, W.-Y, ROSES, A. D

“…Images…”
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D21S194, a jump clone from D21S16 by WALKER, A. P, COLLINS, F. S, PATTERSON, D, ROSES, A. D, BARTLETT, R. J, SIDDIQUE, T, YAMAOKA, L. H, HERBSTREITH, M. H, PERICAK-VANCE, M. A, SECORE, S. L, HUNG, W.-Y, GOATE, A. M, HARDY, J. A

“…Images…”
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RFLP for Duchenne muscular dystrophy cDNA clone 30-2 by WALKER, A. P, BARTLETT, R. J, LAING, N. G, SIDDIQUE, T, YAMAOKA, L. H, CHEN, J. C, HUNG, W.-Y, ROSES, A. D

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Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1) by Pericak-Vance, M A, Yamaoka, L H, Vance, J M, Small, K, Rosenwasser, G O, Gaskell, Jr, P C, Hung, W Y, Alberts, M J, Haynes, C S, Speer, M C

“…Recent localization of the gene for von Recklinghausen neurofibromatosis (NF1) to chromosome 17 has led to studies to identify additional tightly linked probes…”
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A Bgl II polymorphism detected by LDR152 [D19S19] by WALKER, A. P, BARTLETT, R. J, YAMAOKA, L. H, SECORE, S. L, LEE, J. E, GILBERT, J, HERBSTREITH, M, PERICAK-VANCE, M. A, HUNG, W.-Y, ROSES, A. D

“…Images…”
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Free amino acid pools in muscle and hemolymph during the molt cycle of the land crab. Gecarcinus lateralis by Yamaoka, L H, Skinner, D M

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Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A by Speer, M C, Yamaoka, L H, Stajich, J, Lewis, K, Pericak-Vance, M A, Stacy, R, Tandan, R, Fries, T J

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