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Clinical and Experimental Dermatology
|
April 12, 2001
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa
P B Cserhalmi-Friedman, K A Yeboa, A M Christiano
The British Journal of Dermatology
|
April 12, 2001
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene
P B Cserhalmi-Friedman, L M Milstone, A M Christiano
Experimental Dermatology
|
December 31, 1997
Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary
P B Cserhalmi-Friedman, S Karpati, A Horvath, et al.
Archives of Dermatological Research
|
January 28, 1998
Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa
P B Cserhalmi-Friedman, S Karpati, A Horvath, et al.
Experimental Dermatology
|
May 16, 1998
Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene
P B Cserhalmi-Friedman, H Baden, R E Burgeson, et al.
Clinical and Experimental Dermatology
|
June 9, 2000
Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene
I Warmuth, P B Cserhalmi-Friedman, P Schneiderman, et al.
Clinical and Experimental Dermatology
|
November 17, 1999
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene
R Moraru, P B Cserhalmi-Friedman, M E Grossman, et al.
Experimental Dermatology
|
May 8, 1999
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa
P B Cserhalmi-Friedman, J Grossman, S Karpati, et al.
Experimental Dermatology
|
August 19, 2000
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa
P B Cserhalmi-Friedman, Y Tang, A Adler, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
October 6, 1998
Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa
L Pulkkinen, P B Cserhalmi-Friedman, M Tang, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 21) with videos related to
Sort By:
Page
of 3
Clinical and Experimental Dermatology
|
April 12, 2001
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa
P B Cserhalmi-Friedman, K A Yeboa, A M Christiano
The British Journal of Dermatology
|
April 12, 2001
Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene
P B Cserhalmi-Friedman, L M Milstone, A M Christiano
Experimental Dermatology
|
December 31, 1997
Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary
P B Cserhalmi-Friedman, S Karpati, A Horvath, et al.
Archives of Dermatological Research
|
January 28, 1998
Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa
P B Cserhalmi-Friedman, S Karpati, A Horvath, et al.
Experimental Dermatology
|
May 16, 1998
Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene
P B Cserhalmi-Friedman, H Baden, R E Burgeson, et al.
Clinical and Experimental Dermatology
|
June 9, 2000
Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene
I Warmuth, P B Cserhalmi-Friedman, P Schneiderman, et al.
Clinical and Experimental Dermatology
|
November 17, 1999
Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene
R Moraru, P B Cserhalmi-Friedman, M E Grossman, et al.
Experimental Dermatology
|
May 8, 1999
Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa
P B Cserhalmi-Friedman, J Grossman, S Karpati, et al.
Experimental Dermatology
|
August 19, 2000
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa
P B Cserhalmi-Friedman, Y Tang, A Adler, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology
|
October 6, 1998
Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa
L Pulkkinen, P B Cserhalmi-Friedman, M Tang, et al.
Page
of 3