Uitto J - Search Results

1

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Lugassy J, et al. Among authors: uitto j. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25. Am J Hum Genet. 2006. PMID: 16960809 Free PMC article.

2

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

Ryynänen M, Knowlton RG, Parente MG, Chung LC, Chu ML, Uitto J. Ryynänen M, et al. Among authors: uitto j. Am J Hum Genet. 1991 Oct;49(4):797-803. Am J Hum Genet. 1991. PMID: 1680286 Free PMC article.

3

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

Ryynänen M, Knowlton RG, Uitto J. Ryynänen M, et al. Among authors: uitto j. Am J Hum Genet. 1991 Nov;49(5):978-84. Am J Hum Genet. 1991. PMID: 1718160 Free PMC article.

4

Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).

Pulkkinen L, McGrath JA, Christiano AM, Uitto J. Pulkkinen L, et al. Among authors: uitto j. Hum Mutat. 1995;6(1):77-84. doi: 10.1002/humu.1380060115. Hum Mutat. 1995. PMID: 7550237

5

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.

McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J. McGrath JA, et al. Among authors: uitto j. Nat Genet. 1995 Sep;11(1):83-6. doi: 10.1038/ng0995-83. Nat Genet. 1995. PMID: 7550320

6

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: uitto j. J Invest Dermatol. 1995 Apr;104(4):467-74. doi: 10.1111/1523-1747.ep12605904. J Invest Dermatol. 1995. PMID: 7706760 Free article.

7

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.

McGrath JA, Kivirikko S, Ciatti S, Moss C, Dunnill GS, Eady RA, Rodeck CH, Christiano AM, Uitto J. McGrath JA, et al. Among authors: uitto j. Genomics. 1995 Sep 1;29(1):282-4. doi: 10.1006/geno.1995.1246. Genomics. 1995. PMID: 8530087

8

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.

McGrath JA, McMillan JR, Dunnill MG, Pulkkinen L, Christiano AM, Rodeck CH, Eady RA, Uitto J. McGrath JA, et al. Among authors: uitto j. Prenat Diagn. 1995 Jul;15(7):647-54. doi: 10.1002/pd.1970150710. Prenat Diagn. 1995. PMID: 8532625

9

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J. Shimizu H, et al. Among authors: uitto j. J Invest Dermatol. 1996 Jan;106(1):119-24. doi: 10.1111/1523-1747.ep12329600. J Invest Dermatol. 1996. PMID: 8592061 Free article.

10

Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

Christiano AM, McGrath JA, Uitto J. Christiano AM, et al. Among authors: uitto j. J Invest Dermatol. 1996 Apr;106(4):766-70. doi: 10.1111/1523-1747.ep12345814. J Invest Dermatol. 1996. PMID: 8618018 Free article.

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