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Results: 1-9 |
Results: 9
Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane
Authors: Estrada, L Caron, E Gorski, JL
Citation: L. Estrada et al., Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane, HUM MOL GEN, 10(5), 2001, pp. 485-495
CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)
Authors: Martin, DM Sheldon, S Gorski, JL
Citation: Dm. Martin et al., CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11), AM J MED G, 99(2), 2001, pp. 115-119
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: Possible familial RHYNS syndrome
Authors: Hedera, P Gorski, JL
Citation: P. Hedera et Jl. Gorski, Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: Possible familial RHYNS syndrome, AM J MED G, 101(2), 2001, pp. 142-145
Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition
Authors: Martin, DM Gorski, JL
Citation: Dm. Martin et Jl. Gorski, Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition, J MED GENET, 38(8), 2001, pp. 547-551
Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in Faciogenital Dysplasia (FGDY; Aarskog syndrome)
Authors: Gorski, JL Estrada, L Hu, C Liu, Z
Citation: Jl. Gorski et al., Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in Faciogenital Dysplasia (FGDY; Aarskog syndrome), DEV DYNAM, 218(4), 2000, pp. 573-586
Isolation, characterization, and mapping of the mouse Fgd3 gene, a new faciogenital dysplasia (FGD1; Aarskog Syndrome) gene homologue
Authors: Pasteris, NG Nagata, K Hall, A Gorski, JL
Citation: Ng. Pasteris et al., Isolation, characterization, and mapping of the mouse Fgd3 gene, a new faciogenital dysplasia (FGD1; Aarskog Syndrome) gene homologue, GENE, 242(1-2), 2000, pp. 237-247
James V. Neel, 1915-2000 - In memoriam
Authors: Gorski, JL
Citation: Jl. Gorski, James V. Neel, 1915-2000 - In memoriam, AM J MED G, 95(1), 2000, pp. 1-3
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
Authors: Fang, JM Dagenais, SL Erickson, RP Arlt, MF Glynn, MW Gorski, JL Seaver, LH Glover, TW
Citation: Jm. Fang et al., Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome, AM J HU GEN, 67(6), 2000, pp. 1382-1388
Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues
Authors: Pasteris, NG Gorski, JL
Citation: Ng. Pasteris et Jl. Gorski, Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues, GENOMICS, 60(1), 1999, pp. 57-66
Risultati: 1-9 |