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Items: 1 to 20 of 118

1.

A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele.

Ashton GH, Mellerio JE, Dunnill MG, Pulkkinen L, Christiano AM, Uitto J, Eady RA, McGrath JA.

Br J Dermatol. 1997 May;136(5):674-7.

PMID:
9205497
2.

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, Christiano AM, Uitto J.

J Invest Dermatol. 1997 Aug;109(2):232-7.

3.

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
4.

Identification of the LAMB3 hotspot mutation R635X in a Hungarian case of Herlitz junctional epidermolysis bullosa.

Cserhalmi PB, Horvath A, Boros V, Sapi Z, Kormendi M, Christiano AM, Karpati S.

Exp Dermatol. 1997 Apr;6(2):70-4.

PMID:
9209887
5.
6.

Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.

Posteraro P, De Luca N, Meneguzzi G, El Hachem M, Angelo C, Gobello T, Tadini G, Zambruno G, Castiglia D.

J Invest Dermatol. 2004 Oct;123(4):639-48.

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.

Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.

Pulkkinen L, McGrath J, Airenne T, Haakana H, Tryggvason K, Kivirikko S, Meneguzzi G, Ortonne JP, Christiano AM, Uitto J.

Mol Med. 1997 Feb;3(2):124-35.

9.

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MG, McMillan JR, Eady RA, Ortonne JP, Meneguzzi G, et al.

Hum Mol Genet. 1995 May;4(5):959-62.

PMID:
7633458
10.
11.

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.

12.
13.

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.

Yuen WY, Lemmink HH, van Dijk-Bos KK, Sinke RJ, Jonkman MF.

Br J Dermatol. 2011 Dec;165(6):1314-22. doi: 10.1111/j.1365-2133.2011.10553.x. Epub 2011 Nov 17.

PMID:
21801158
14.

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.

15.
16.

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
17.
18.

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
19.

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.

Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA.

Clin Exp Dermatol. 2005 Jan;30(1):71-4.

PMID:
15663509
20.

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