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
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
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
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
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
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
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