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Results: 1-25 | 26-32
Results: 1-25/32
Inborn errors of sterol biosynthesis
Authors: Kelley, RI
Citation: Ri. Kelley, Inborn errors of sterol biosynthesis, ANN REV GEN, 2, 2001, pp. 299-341
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001)
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001), EUR J HUM G, 9(8), 2001, pp. 651-651
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 253-259
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations
Authors: Witsch-Raumgartner, M Ciara, E Loffler, J Menzel, HJ Seedorf, U Burn, J Gillessen-Kaesbach, G Hoffmann, GF Fitzy, BU Mundy, H Clayton, P Kelley, RI Krajewska-Walasek, M Utermann, G
Citation: M. Witsch-raumgartner et al., Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations, EUR J HUM G, 9(1), 2001, pp. 45-50
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
Authors: Wassif, CA Zhu, PJ Kratz, L Krakowiak, PA Battaile, KP Weight, FF Grinberg, A Steiner, RD Nwokoro, NA Kelley, RI Stewart, RR Porter, FD
Citation: Ca. Wassif et al., Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome, HUM MOL GEN, 10(6), 2001, pp. 555-564
Mouse Td(ho) abnormality results from double point mutations of the emopamil binding protein gene (Ebp)
Authors: Seo, KW Kelley, RI Okano, S Watanabe, T
Citation: Kw. Seo et al., Mouse Td(ho) abnormality results from double point mutations of the emopamil binding protein gene (Ebp), MAMM GENOME, 12(8), 2001, pp. 602-605
Inherited disorders of cholesterol biosynthesis
Authors: Haas, D Kelley, RI Hoffmann, GF
Citation: D. Haas et al., Inherited disorders of cholesterol biosynthesis, NEUROPEDIAT, 32(3), 2001, pp. 113-122
Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)
Authors: De Kremer, RD Paschini-Capra, A Bacman, S Argarana, C Civallero, G Kelley, RI Guelbert, N Latini, A de Halac, IN Giner-Ayala, A Johnston, J Proujansky, R Gonzalez, I Depetris-Boldini, C Oller-Ramirez, A Angaroni, C Theaux, RA Hliba, E Juaneda, E
Citation: Rd. De Kremer et al., Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation), AM J MED G, 99(2), 2001, pp. 83-93
Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis
Authors: Kumada, S Hayashi, M Kenmochi, J Kurosawa, S Shimozawa, N Kratz, LE Kelley, RI Taki, K Okaniwa, M
Citation: S. Kumada et al., Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis, AM J MED G, 98(3), 2001, pp. 250-255
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome
Authors: Tierney, E Nwokoro, NA Porter, FD Freund, LS Ghuman, JK Kelley, RI
Citation: E. Tierney et al., Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome, AM J MED G, 98(2), 2001, pp. 191-200
Preliminary evidence for a cognitive phenotype in Barth syndrome
Authors: Mazzocco, MMM Kelley, RI
Citation: Mmm. Mazzocco et Ri. Kelley, Preliminary evidence for a cognitive phenotype in Barth syndrome, AM J MED G, 102(4), 2001, pp. 372-378
Sterols in blood of normal and Smith-Lemli-Opitz subjects
Authors: Ruan, BF Wilson, WK Pang, JH Gerst, N Pinkerton, FD Tsai, J Kelley, RI Whitby, FG Milewicz, DM Garbern, J Schroepfer, GJ
Citation: Bf. Ruan et al., Sterols in blood of normal and Smith-Lemli-Opitz subjects, J LIPID RES, 42(5), 2001, pp. 799-812
Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
Authors: Waterham, HR Koster, J Romeijn, GJ Hennekam, RCM Vreken, P Andersson, HC FitzPatrick, DR Kelley, RI Wanders, RJA
Citation: Hr. Waterham et al., Mutations in the 3 beta-hydroxysterol Delta(24)-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis, AM J HU GEN, 69(4), 2001, pp. 685-694
Behavioral phenotype of RSH/Smith Lemli-Opitz syndrome
Authors: Tierney, E Nwokoro, NA Kelley, RI
Citation: E. Tierney et al., Behavioral phenotype of RSH/Smith Lemli-Opitz syndrome, MENT RET D, 6(2), 2000, pp. 131-134
Reply to the letter to the editor by Happle et al. - "Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase"
Authors: Grange, DK Kelley, RI
Citation: Dk. Grange et Ri. Kelley, Reply to the letter to the editor by Happle et al. - "Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase", AM J MED G, 94(4), 2000, pp. 342-343
CHILD syndrome caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase
Authors: Grange, DK Kratz, LE Braverman, NE Kelley, RI
Citation: Dk. Grange et al., CHILD syndrome caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase, AM J MED G, 90(4), 2000, pp. 328-335
The Smith-Lemli-Opitz syndrome
Authors: Kelley, RI Hennekam, RCM
Citation: Ri. Kelley et Rcm. Hennekam, The Smith-Lemli-Opitz syndrome, J MED GENET, 37(5), 2000, pp. 321-335
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
Authors: Johnston, JJ Kelley, RI Crawford, TO Morton, DH Agarwala, R Koch, T Schaffer, AA Francomano, CA Biesecker, LG
Citation: Jj. Johnston et al., A novel nemaline myopathy in the Amish caused by a mutation in troponin T1, AM J HU GEN, 67(4), 2000, pp. 814-821
Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
Authors: Witsch-Baumgartner, M Fitzky, BU Ogorelkova, M Kraft, HG Moebius, FF Glossmann, H Seedorf, U Gillessen-Kaesbach, G Hoffmann, GF Clayton, P Kelley, RI Utermann, G
Citation: M. Witsch-baumgartner et al., Mutational spectrum in the Delta 7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome, AM J HU GEN, 66(2), 2000, pp. 402-412
Mutations in a Delta(8)-Delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata
Authors: Derry, JMJ Gormally, E Means, GD Zhao, W Meindl, A Kelley, RI Boyd, Y Herman, GE
Citation: Jmj. Derry et al., Mutations in a Delta(8)-Delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata, NAT GENET, 22(3), 1999, pp. 286-290
Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome
Authors: Braverman, N Lin, P Moebius, FF Obie, C Moser, A Glossmann, H Wilcox, WR Rimoin, DL Smith, M Kratz, L Kelley, RI Valle, D
Citation: N. Braverman et al., Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome, NAT GENET, 22(3), 1999, pp. 291-294
The gene mutated in bare patches and striated mice encodes a novel 3 beta-hydroxysteroid dehydrogenase
Authors: Liu, XY Dangel, AW Kelley, RI Zhao, W Denny, P Botcherby, M Cattanach, B Peters, J Hunsicker, PR Mallon, AM Strivens, MA Bate, R Miller, W Rhodes, M Brown, SDM Herman, GE
Citation: Xy. Liu et al., The gene mutated in bare patches and striated mice encodes a novel 3 beta-hydroxysteroid dehydrogenase, NAT GENET, 22(2), 1999, pp. 182-187
Abnormal fatty acid metabolism in childhood spinal muscular atrophy
Authors: Crawford, TO Sladky, JT Hurko, O Besner-Johnston, A Kelley, RI
Citation: To. Crawford et al., Abnormal fatty acid metabolism in childhood spinal muscular atrophy, ANN NEUROL, 45(3), 1999, pp. 337-343
Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus
Authors: Bick, DP McCorkle, D Stanley, WS Stern, HJ Staszak, P Berkovitz, GD Meyers, CM Kelley, RI
Citation: Dp. Bick et al., Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus, PRENAT DIAG, 19(1), 1999, pp. 68-71
Biochemical variants of Smith-Lemli-Opitz syndrome
Authors: Neklason, DW Andrews, KM Kelley, RI Metherall, JE
Citation: Dw. Neklason et al., Biochemical variants of Smith-Lemli-Opitz syndrome, AM J MED G, 85(5), 1999, pp. 517-523
Risultati: 1-25 | 26-32