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Results: 1-20 |
Results: 20
Life after the screen: Making sense of many p-values
Authors: Schmidt, S Shao, YJ Hauser, ER Slifer, SH Martin, ER Scott, WK Speer, MC Pericak-Vance, MA
Citation: S. Schmidt et al., Life after the screen: Making sense of many p-values, GENET EPID, 21, 2001, pp. S546-S551
Additional glomangioma families link to chromosome 1p: No evidence for genetic heterogeneity
Authors: Calvert, JT Burns, S Riney, TJ Sahoo, T Orlow, SJ Nevin, NC Haisley-Royster, C Prose, N Simpson, SA Speer, MC Marchuk, DA
Citation: Jt. Calvert et al., Additional glomangioma families link to chromosome 1p: No evidence for genetic heterogeneity, HUMAN HERED, 51(3), 2001, pp. 180-182
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
Authors: White, KE Evans, WE O'Riordan, JLH Speer, MC Econs, MJ Lorenz-Depiereux, B Grabowski, M Meitinger, T Strom, TM
Citation: Ke. White et al., Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23, NAT GENET, 26(3), 2000, pp. 345-348
Genetic studies in neural tube defects
Authors: Melvin, EC George, TM Worley, G Franklin, A Mackey, J Viles, K Shah, N Drake, CR Enterline, DS McLone, D Nye, J Oakes, WJ McLaughlin, C Walker, ML Peterson, P Brei, T Buran, C Aben, J Ohm, B Bermans, I Qumsiyeh, M Vance, J Pericak-Vance, MA Speer, MC
Citation: Ec. Melvin et al., Genetic studies in neural tube defects, PED NEUROS, 32(1), 2000, pp. 1-9
Myotilin is mutated in limb girdle muscular dystrophy 1A
Authors: Hauser, MA Horrigan, SK Salmikangas, P Torian, UM Viles, KD Dancel, R Tim, RW Taivainen, A Bartoloni, L Gilchrist, JM Stajich, JM Gaskell, PC Gilbert, JR Vance, JM Pericak-Vance, MA Carpen, O Westbrook, CA Speer, MC
Citation: Ma. Hauser et al., Myotilin is mutated in limb girdle muscular dystrophy 1A, HUM MOL GEN, 9(14), 2000, pp. 2141-2147
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha 3(VI) chain interferes with protein folding
Authors: Sasaki, T Hohenester, E Zhang, RZ Gotta, S Speer, MC Tandan, R Timpl, R Chu, ML
Citation: T. Sasaki et al., A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha 3(VI) chain interferes with protein folding, FASEB J, 14(5), 2000, pp. 761-768
Genetic and embryological approaches to studies of neural tube defects: A critical review
Authors: George, TM Speer, MC
Citation: Tm. George et Mc. Speer, Genetic and embryological approaches to studies of neural tube defects: A critical review, NEUROL RES, 22(1), 2000, pp. 117-122
Heterogeneity in Paget disease of the bone
Authors: Nance, MA Nuttall, FQ Econs, MJ Lyles, KW Viles, KD Vance, JM Pericak-Vance, MA Speer, MC
Citation: Ma. Nance et al., Heterogeneity in Paget disease of the bone, AM J MED G, 92(5), 2000, pp. 303-307
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies
Authors: Nye, JS Hayes, EA Amendola, M Vaughn, D Charrow, J McLone, DG Speer, MC Nance, WE Pandya, A
Citation: Js. Nye et al., Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies, TERATOLOGY, 61(3), 2000, pp. 165-171
Genetic linkage analysis in human disease
Authors: Leal, SM Speer, MC
Citation: Sm. Leal et Mc. Speer, Genetic linkage analysis in human disease, GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE, 2000, pp. 377-413
Allelic and locus heterogeneity in inherited venous malformations
Authors: Calvert, JT Riney, TJ Kontos, CD Cha, EH Prieto, VG Shea, CR Berg, JN Nevin, NC Simpson, SA Pasyk, KA Speer, MC Peters, KG Marchuk, DA
Citation: Jt. Calvert et al., Allelic and locus heterogeneity in inherited venous malformations, HUM MOL GEN, 8(7), 1999, pp. 1279-1289
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences
Authors: Horrigan, SK Bartoloni, L Speer, MC Fulton, N Kravarusic, J Ramesar, R Vance, JM Yamaoka, LH Westbrook, CA
Citation: Sk. Horrigan et al., A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences, GENOMICS, 57(1), 1999, pp. 24-35
Complete genomic screen for disease susceptibility loci in nuclear families
Authors: Anderson, JL Hauser, ER Martin, ER Scott, WK Ashley-Koch, A Kim, KJ Monks, SA Haynes, CS Speer, MC Pericak-Vance, MA
Citation: Jl. Anderson et al., Complete genomic screen for disease susceptibility loci in nuclear families, GENET EPID, 17, 1999, pp. S473-S478
Genetic mapping of a novel familial form of infantile hemangioma
Authors: Walter, JW Blei, F Anderson, JL Orlow, SJ Speer, MC Marchuk, DA
Citation: Jw. Walter et al., Genetic mapping of a novel familial form of infantile hemangioma, AM J MED G, 82(1), 1999, pp. 77-83
Chiari I malformation redefined: Clinical and radiographic findings for 364 symptomatic patients
Authors: Milhorat, TH Chou, MW Trinidad, EM Kula, RW Mandell, M Wolpert, C Speer, MC
Citation: Th. Milhorat et al., Chiari I malformation redefined: Clinical and radiographic findings for 364 symptomatic patients, NEUROSURGER, 44(5), 1999, pp. 1005-1017
Respiratory muscle involvement in Bethlem myopathy
Authors: Haq, RU Speer, MC Chu, ML Tandan, R
Citation: Ru. Haq et al., Respiratory muscle involvement in Bethlem myopathy, NEUROLOGY, 52(1), 1999, pp. 174-176
Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects
Authors: Speer, MC Nye, J McLone, D Worley, G Melvin, EC Viles, KD Franklin, A Drake, C Mackey, J George, TM
Citation: Mc. Speer et al., Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects, CLIN GENET, 56(2), 1999, pp. 142-144
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
Authors: Speer, MC Vance, JM Grubber, JM Graham, FL Stajich, JM Viles, KD Rogala, A McMichael, R Chutkow, J Goldsmith, C Tim, RW Pericak-Vance, MA
Citation: Mc. Speer et al., Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7, AM J HU GEN, 64(2), 1999, pp. 556-562
Genetic linkage: Concepts and methods
Authors: Speer, MC
Citation: Mc. Speer, Genetic linkage: Concepts and methods, GENETICS OF CEREBROVASCULAR DISEASE, 1999, pp. 19-40
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31
Authors: Bartoloni, L Horrigan, SK Viles, KD Gilchrist, JM Stajich, JM Vance, JM Yamaoka, LH Pericak-Vance, MA Westbrook, CA Speer, MC
Citation: L. Bartoloni et al., Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31, GENOMICS, 54(2), 1998, pp. 250-255
Risultati: 1-20 |