Pulkkinen L - Search Results

1

Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa?

Klausegger A, Pulkkinen L, Pohla-Gubo G, Dallinger G, Puttinger R, Uitto J, Hintner H, Bauer JW. Klausegger A, et al. Among authors: pulkkinen l. J Invest Dermatol. 2001 Mar;116(3):474-5. doi: 10.1046/j.1523-1747.2001.12793.x. J Invest Dermatol. 2001. PMID: 11231327 Free article. No abstract available.

2

Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa.

Pulkkinen L, Uitto J. Pulkkinen L, et al. J Invest Dermatol. 1998 Dec;111(6):1244-6. doi: 10.1046/j.1523-1747.1998.00399.x. J Invest Dermatol. 1998. PMID: 9856855 Free article. No abstract available.

3

Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.

Uitto J, Pulkkinen L, Ringpfeil F. Uitto J, et al. Among authors: pulkkinen l. J Investig Dermatol Symp Proc. 2002 Dec;7(1):6-16. doi: 10.1046/j.1523-1747.2002.19637.x. J Investig Dermatol Symp Proc. 2002. PMID: 12518787 Free article. Review.

4

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: pulkkinen l. J Invest Dermatol. 1995 Apr;104(4):462-6. doi: 10.1111/1523-1747.ep12605898. J Invest Dermatol. 1995. PMID: 7706759 Free article.

5

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.

McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J. McGrath JA, et al. Among authors: pulkkinen l. J Invest Dermatol. 1995 Apr;104(4):467-74. doi: 10.1111/1523-1747.ep12605904. J Invest Dermatol. 1995. PMID: 7706760 Free article.

6

Identification of a homozygous exon-skipping mutation in the LAMC2 gene in a patient with Herlitz's junctional epidermolysis bullosa.

Vailly J, Pulkkinen L, Christiano AM, Tryggvason K, Uitto J, Ortonne JP, Meneguzzi G. Vailly J, et al. Among authors: pulkkinen l. J Invest Dermatol. 1995 Mar;104(3):434-7. doi: 10.1111/1523-1747.ep12666027. J Invest Dermatol. 1995. PMID: 7861013 Free article.

7

Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes.

Uitto J, Pulkkinen L, Christiano AM. Uitto J, et al. Among authors: pulkkinen l. J Invest Dermatol. 1994 Nov;103(5 Suppl):39S-46S. doi: 10.1111/1523-1747.ep12398967. J Invest Dermatol. 1994. PMID: 7963683 Free article. Review.

8

Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.

Christiano AM, Pulkkinen L, Eady RA, Uitto J. Christiano AM, et al. Among authors: pulkkinen l. J Invest Dermatol. 1996 Apr;106(4):775-7. doi: 10.1111/1523-1747.ep12346246. J Invest Dermatol. 1996. PMID: 8618020 Free article.

9

Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa.

McGarth JA, Christiano AM, Pulkkinen L, Eady RA, Uitto J. McGarth JA, et al. Among authors: pulkkinen l. J Invest Dermatol. 1996 May;106(5):1157-9. doi: 10.1111/1523-1747.ep12340210. J Invest Dermatol. 1996. PMID: 8618058 Free article.

10

Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J. Kon A, et al. Among authors: pulkkinen l. J Invest Dermatol. 1997 Feb;108(2):224-8. doi: 10.1111/1523-1747.ep12335324. J Invest Dermatol. 1997. PMID: 9008239 Free article.

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