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Results: 1-8 |
Results: 8
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia
Authors: Chen, YW Molloy, SS Thomas, L Gambee, J Bachinger, HP Ferguson, B Zonana, J Thomas, G Morris, NP
Citation: Yw. Chen et al., Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia, P NAS US, 98(13), 2001, pp. 7218-7223
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
Authors: Schneider, P Street, SL Gaide, O Hertig, S Tardivel, A Tschopp, J Runkel, L Alevizopoulos, K Ferguson, BM Zonana, J
Citation: P. Schneider et al., Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A, J BIOL CHEM, 276(22), 2001, pp. 18819-18827
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) - Reply to Kosaki et al.
Authors: Zonana, J Ferguson, B
Citation: J. Zonana et B. Ferguson, Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) - Reply to Kosaki et al., AM J HU GEN, 69(3), 2001, pp. 665-666
Mutations in GJB6 cause hidrotic ectodermal dysplasia
Authors: Lamartine, J Essenfelder, GM Kibar, Z Lanneluc, I Callouet, E Laoudj, D Lemaitre, G Hand, C Hayflick, SJ Zonana, J Antonarakis, S Radhakrishna, U Kelsell, DP Christianson, AL Pitaval, A Der Kaloustian, V Fraser, C Blanchet-Bardon, C Rouleau, GA Waksman, G
Citation: J. Lamartine et al., Mutations in GJB6 cause hidrotic ectodermal dysplasia, NAT GENET, 26(2), 2000, pp. 142-144
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
Authors: Kibar, Z Dube, MP Powell, J McCuaig, C Hayflick, SJ Zonana, J Hovnanian, A Radhakrishna, U Antonarakis, SE Benohanian, A Sheeran, AD Stephan, ML Gosselin, R Kelsell, DP Christianson, AL Fraser, FC Kaloustian, VMD Rouleau, GA
Citation: Z. Kibar et al., Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping, EUR J HUM G, 8(5), 2000, pp. 372-380
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermaldysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
Authors: Zonana, J Elder, ME Schneider, LC Orlow, SJ Moss, C Golabi, M Shapira, SK Farndon, PA Wara, DW Emmal, SA Ferguson, BM
Citation: J. Zonana et al., A novel X-linked disorder of immune deficiency and hypohidrotic ectodermaldysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO), AM J HU GEN, 67(6), 2000, pp. 1555-1562
Mutations in the human homologue of mouse dl cause autosomal recessive anddominant hypohidrotic ectodermal dysplasia
Authors: Monreal, AW Ferguson, BM Headon, DJ Street, SL Overbeek, PA Zonana, J
Citation: Aw. Monreal et al., Mutations in the human homologue of mouse dl cause autosomal recessive anddominant hypohidrotic ectodermal dysplasia, NAT GENET, 22(4), 1999, pp. 366-369
Elizabeth Barrett Browning's spiritual progress: Face to face with God
Authors: Zonana, J
Citation: J. Zonana, Elizabeth Barrett Browning's spiritual progress: Face to face with God, TULSA ST W, 18(1), 1999, pp. 116-118
Risultati: 1-8 |