Burgeson RE - Search Results

1

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.

Cserhalmi-Friedman PB, Baden H, Burgeson RE, Christiano AM. Cserhalmi-Friedman PB, et al. Among authors: burgeson re. Exp Dermatol. 1998 Apr-Jun;7(2-3):105-11. doi: 10.1111/j.1600-0625.1998.tb00309.x. Exp Dermatol. 1998. PMID: 9583749

2

Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.

Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T. Shimizu H, et al. Arch Dermatol. 1997 Sep;133(9):1111-7. Arch Dermatol. 1997. PMID: 9301588 Review.

3

Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.

Christiano AM, Amano S, Eichenfield LF, Burgeson RE, Uitto J. Christiano AM, et al. Among authors: burgeson re. J Invest Dermatol. 1997 Sep;109(3):390-4. doi: 10.1111/1523-1747.ep12336276. J Invest Dermatol. 1997. PMID: 9284110 Free article.

4

Structural analysis and mutation detection strategy for the human LAMC3 gene.

Cserhalmi-Friedman PB, Olson PF, Koch M, Champliaud MF, Brunken WJ, Burgeson RE, Christiano AM. Cserhalmi-Friedman PB, et al. Among authors: burgeson re. Biochem Biophys Res Commun. 2001 Jan 12;280(1):39-44. doi: 10.1006/bbrc.2000.4086. Biochem Biophys Res Commun. 2001. PMID: 11162474

5

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa.

Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J. Pulkkinen L, et al. Among authors: burgeson re. Genomics. 1994 Nov 15;24(2):357-60. doi: 10.1006/geno.1994.1627. Genomics. 1994. PMID: 7698759

6

Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence.

Vailly J, Pulkkinen L, Miquel C, Christiano AM, Gerecke D, Burgeson RE, Uitto J, Ortonne JP, Meneguzzi G. Vailly J, et al. Among authors: burgeson re. J Invest Dermatol. 1995 Apr;104(4):462-6. doi: 10.1111/1523-1747.ep12605898. J Invest Dermatol. 1995. PMID: 7706759 Free article.

7

Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa.

Pulkkinen L, Gerecke DR, Christiano AM, Wagman DW, Burgeson RE, Uitto J. Pulkkinen L, et al. Among authors: burgeson re. Genomics. 1995 Jan 1;25(1):192-8. doi: 10.1016/0888-7543(95)80125-6. Genomics. 1995. PMID: 7774918

8

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis.

Marinkovich MP, Meneguzzi G, Burgeson RE, Blanchet-Bardon C, Holbrook KA, Smith LT, Christiano AM, Ortonne JP. Marinkovich MP, et al. Among authors: burgeson re. Prenat Diagn. 1995 Nov;15(11):1027-34. doi: 10.1002/pd.1970151107. Prenat Diagn. 1995. PMID: 8606881

9

Symposium on Epidermolysis Bullosa: Molecular Genetics of the Cutaneous Basement Membrane Zone, Jefferson Medical College, Philadelphia, Pennsylvania, April 29 and 30, 1996.

Uitto J, Burgeson RE, Christiano AM, Moshell AN. Uitto J, et al. Among authors: burgeson re. J Invest Dermatol. 1996 Nov;107(5):787-8. doi: 10.1111/1523-1747.ep12371847. J Invest Dermatol. 1996. PMID: 8875967 Free article. No abstract available.

10

Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

Christiano AM, Anton-Lamprecht I, Amano S, Ebschner U, Burgeson RE, Uitto J. Christiano AM, et al. Among authors: burgeson re. Am J Hum Genet. 1996 Apr;58(4):682-93. Am J Hum Genet. 1996. PMID: 8644730 Free PMC article.

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