Authors:
Frank, J
Cserhalmi-Friedman, PB
Ahmad, W
Panteleyev, AA
Aita, VM
Christiano, AM
Citation: J. Frank et al., Characterization of the desmosomal cadherin gene family: Genomic organization of two desmoglein genes on human chromosome 18q12, EXP DERMATO, 10(2), 2001, pp. 90-94
Authors:
Cserhalmi-Friedman, PB
Frank, JA
Ahmad, W
Panteleyev, AA
Aita, VM
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Structural analysis reflects the evolutionary relationship between the human desmocollin gene family members, EXP DERMATO, 10(2), 2001, pp. 95-99
Authors:
Cserhalmi-Friedman, PB
Yeboa, KA
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa, CLIN EXP D, 26(2), 2001, pp. 205-207
Authors:
Cserhalmi-Friedman, PB
Milstone, LM
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Diagnosis of autosomal recessive lamellar ichthyosis with mutations in theTGM1 gene, BR J DERM, 144(4), 2001, pp. 726-730
Authors:
Cserhalmi-Friedman, PB
Olson, PF
Koch, M
Champliaud, MF
Brunken, WJ
Burgeson, RE
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Structural analysis and mutation detection strategy for the human LamC3 gene, BIOC BIOP R, 280(1), 2001, pp. 39-44
Authors:
Cserhalmi-Friedman, PB
Tang, Y
Adler, A
Krey, L
Grifo, JA
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa, EXP DERMATO, 9(4), 2000, pp. 290-297
Authors:
Cserhalmi-Friedman, PB
Squeo, R
Gordon, D
Garzon, M
Schneiderman, P
Grossman, ME
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene, CLIN EXP D, 25(3), 2000, pp. 241-243
Authors:
Warmuth, I
Cserhalmi-Friedman, PB
Schneiderman, P
Grossman, ME
Christiano, AM
Citation: I. Warmuth et al., Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene, CLIN EXP D, 25(3), 2000, pp. 244-246
Citation: Kj. Green et al., Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers, EXP DERMATO, 8(6), 1999, pp. 462-470
Authors:
Cserhalmi-Friedman, PB
Grossman, J
Karpati, S
Ahmad, W
Horvath, A
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa, EXP DERMATO, 8(2), 1999, pp. 143-145
Authors:
Moraru, R
Cserhalmi-Friedman, PB
Grossman, ME
Schneiderman, P
Christiano, AM
Citation: R. Moraru et al., Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene, CLIN EXP D, 24(5), 1999, pp. 412-415
Authors:
Frank, J
Pignata, C
Panteleyev, AA
Prowse, DM
Baden, H
Weiner, L
Gaetaniello, L
Ahmad, W
Pozzi, N
Cserhalmi-Friedman, PB
Aita, VM
Uyttendaele, H
Gordon, D
Ott, J
Brissette, JL
Christiano, AM
Citation: J. Frank et al., Exposing the human nude phenotype, NATURE, 398(6727), 1999, pp. 473-474
Authors:
Cserhalmi-Friedman, PB
McGrath, JA
Mellerio, JE
Romero, R
Salas-Alanis, JC
Paller, AS
Dietz, HC
Christiano, AM
Citation: Pb. Cserhalmi-friedman et al., Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene, LAB INV, 78(12), 1998, pp. 1483-1492
Authors:
Rouan, F
Pulkkinen, L
Jonkman, MF
Bauer, JW
Cserhalmi-Friedman, PB
Christiano, AM
Uitto, J
Citation: F. Rouan et al., Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: Implications for geneticcounseling, J INVES DER, 111(6), 1998, pp. 1210-1213