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Items: 1 to 20 of 167

1.

Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

Takizawa Y, Shimizu H, Pulkkinen L, Hiraoka Y, McGrath JA, Suzumori K, Aiso S, Uitto J, Nishikawa T.

J Invest Dermatol. 1998 Feb;110(2):174-8.

2.

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.

J Invest Dermatol. 1995 Apr;104(4):462-6.

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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.

J Invest Dermatol. 1996 May;106(5):1157-9.

7.

Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.

Jeon IK, Kim SE, Kim SC.

J Dermatol. 2014 Apr;41(4):322-4. doi: 10.1111/1346-8138.12413. Epub 2014 Feb 18.

PMID:
24533970
8.

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.

Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J.

Hum Genet. 2002 Jan;110(1):41-51. Epub 2001 Nov 13.

PMID:
11810295
9.

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM.

Hum Mol Genet. 1996 Feb;5(2):231-7.

PMID:
8824879
10.

Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects.

Hauschild R, Wollina U, Bruckner-Tuderman L.

J Eur Acad Dermatol Venereol. 2001 Jan;15(1):73-6.

PMID:
11451332
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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.

Genomics. 1994 Nov 15;24(2):357-60.

PMID:
7698759
13.

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.

Genomics. 1995 Sep 1;29(1):282-4.

PMID:
8530087
14.

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

Christiano AM, Pulkkinen L, McGrath JA, Uitto J.

Prenat Diagn. 1997 Apr;17(4):343-54.

PMID:
9160387
15.

Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa.

Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, Uitto J.

J Invest Dermatol. 1998 May;110(5):828-31.

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Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

McGrath JA, Ashton GH, Mellerio JE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RA.

J Invest Dermatol. 1999 Sep;113(3):314-21.

19.

Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.

Castori M, Floriddia G, De Luca N, Pascucci M, Ghirri P, Boccaletti V, El Hachem M, Zambruno G, Castiglia D.

Br J Dermatol. 2008 Jan;158(1):38-44. Epub 2007 Oct 4.

PMID:
17916201
20.

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.

Prenat Diagn. 1995 Jul;15(7):647-54.

PMID:
8532625

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