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Results: 1-17 |
Results: 17
Genetic disorders of cholesterol biosynthesis in mice and humans
Authors: Nwokoro, NA Wassif, CA Porter, FD
Citation: Na. Nwokoro et al., Genetic disorders of cholesterol biosynthesis in mice and humans, MOL GEN MET, 74(1-2), 2001, pp. 105-119
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
LIM-homeodomain gene Lhx2 regulates the formation of the cortical hem
Authors: Bulchand, S Grove, EA Porter, FD Tole, S
Citation: S. Bulchand et al., LIM-homeodomain gene Lhx2 regulates the formation of the cortical hem, MECH DEVEL, 100(2), 2001, pp. 165-175
Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway
Authors: Monuki, ES Porter, FD Walsh, CA
Citation: Es. Monuki et al., Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway, NEURON, 32(4), 2001, pp. 591-604
Smith-Lemli-Opitz syndrome
Authors: Martin, A Koenig, K Scahill, L Tierney, E Porter, FD Nwokoro, NA
Citation: A. Martin et al., Smith-Lemli-Opitz syndrome, J AM A CHIL, 40(5), 2001, pp. 506-507
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
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Siu, VM Krakowiak, PA Porter, FD
Citation: Mjm. Nowaczyk et al., Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome, AM J MED G, 103(3), 2001, pp. 223-225
Smith-Lemli-Opitz (RHS) syndrome: Holoprosencephaly and homozygous IVS8-1G-> C genotype
Authors: Nowaczyk, MJM Farrell, SA Sirkin, WL Velsher, L Krakowiak, PA Waye, JS Porter, FD
Citation: Mjm. Nowaczyk et al., Smith-Lemli-Opitz (RHS) syndrome: Holoprosencephaly and homozygous IVS8-1G-> C genotype, AM J MED G, 103(1), 2001, pp. 75-80
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome
Authors: Nowaczyk, MJM Nakamura, LM Eng, B Porter, FD Waye, JS
Citation: Mjm. Nowaczyk et al., Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome, AM J MED G, 102(4), 2001, pp. 383-386
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada
Authors: Nowaczyk, MJM McCaughey, D Whelan, DT Porter, FD
Citation: Mjm. Nowaczyk et al., Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada, AM J MED G, 102(1), 2001, pp. 18-20
RSH/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis
Authors: Porter, FD
Citation: Fd. Porter, RSH/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis, MOL GEN MET, 71(1-2), 2000, pp. 163-174
Smith-Lemli-Opitz syndrome: A multiple malformation/mental retardation syndrome caused by defective cholesterol synthesis
Authors: Ginat, S Maslen, CL Conner, WE Porter, FD Steiner, RD
Citation: S. Ginat et al., Smith-Lemli-Opitz syndrome: A multiple malformation/mental retardation syndrome caused by defective cholesterol synthesis, ENDOCRINOLO, 10(5), 2000, pp. 300-313
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping
Authors: Krakowiak, PA Nwokoro, NA Wassif, CA Battaile, KP Nowaczyk, MJM Connor, WE Maslen, C Steiner, RD Porter, FD
Citation: Pa. Krakowiak et al., Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping, AM J MED G, 94(3), 2000, pp. 214-227
The LIM homeobox gene Lhx9 is essential for mouse gonad formation
Authors: Birk, OS Casiano, DE Wassif, CA Cogliati, T Zhao, LP Zhao, YG Grinberg, A Huang, SP Kreidberg, JA Parker, KL Porter, FD Westphal, H
Citation: Os. Birk et al., The LIM homeobox gene Lhx9 is essential for mouse gonad formation, NATURE, 403(6772), 2000, pp. 909-913
Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex (vol 81, pg 193, 1999)
Authors: Bertuzzi, S Porter, FD Pitts, A Kumara, M Agulnik, A Wassif, C Westphal, H
Citation: S. Bertuzzi et al., Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex (vol 81, pg 193, 1999), MECH DEVEL, 85(1-2), 1999, pp. 219-219
Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex
Authors: Bertuzzi, S Porter, FD Pitts, A Kumar, M Agulnick, A Wassif, C Westphal, H
Citation: S. Bertuzzi et al., Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex, MECH DEVEL, 81(1-2), 1999, pp. 193-198
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha 1(I) G349C substitution - Variability in phenotype in BrtlIV mice
Authors: Forlino, A Porter, FD Lee, EJ Westphal, H Marini, JC
Citation: A. Forlino et al., Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha 1(I) G349C substitution - Variability in phenotype in BrtlIV mice, J BIOL CHEM, 274(53), 1999, pp. 37923-37931
Risultati: 1-17 |