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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
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
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
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
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
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
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
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
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
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