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Items: 1 to 20 of 228

1.
2.

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
3.

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
4.

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
5.

Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.

Mühle C, Jiang QJ, Charlesworth A, Bruckner-Tuderman L, Meneguzzi G, Schneider H.

Hum Genet. 2005 Jan;116(1-2):33-42. Epub 2004 Nov 5.

PMID:
15538630
6.

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
7.

Herlitz junctional epidermolysis bullosa.

Laimer M, Lanschuetzer CM, Diem A, Bauer JW.

Dermatol Clin. 2010 Jan;28(1):55-60. doi: 10.1016/j.det.2009.10.006. Review.

PMID:
19945616
8.

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
9.

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
10.

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
11.

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.

12.

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.

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.

14.
15.

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
16.

Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation.

McMillan JR, McGrath JA, Pulkkinen L, Kon A, Burgeson RE, Ortonne JP, Meneguzzi G, Uitto J, Eady RA.

Br J Dermatol. 1997 Jun;136(6):817-22.

PMID:
9217810
17.

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
18.
19.

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.

20.

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa.

Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J.

Nat Genet. 1994 Mar;6(3):293-7.

PMID:
8012393

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