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Items: 1 to 20 of 120

1.

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.

J Invest Dermatol. 1995 Apr;104(4):467-74.

2.

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
3.

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.

4.
5.

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.

6.
7.

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
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.

PMID:
11810295
9.
10.

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
11.
12.

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.

13.

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.

PMID:
24533970
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.

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.

16.

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.

Nat Genet. 1995 Sep;11(1):83-6.

PMID:
7550320
17.

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
18.

Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa.

Takizawa Y, Hiraoka Y, Takahashi H, Ishiko A, Yasuraoka I, Hashimoto I, Aiso S, Nishikawa T, Shimizu H.

J Invest Dermatol. 2000 Aug;115(2):312-6.

19.

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
20.

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.

PMID:
21801158
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