Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 562

1.

Autosomal dominant junctional epidermolysis bullosa.

Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, Mellerio JE, McGrath JA.

Br J Dermatol. 2009 May;160(5):1094-7. doi: 10.1111/j.1365-2133.2008.08977.x. Epub 2009 Dec 16.

PMID:
19120338
2.

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.

Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF.

Br J Dermatol. 2007 May;156(5):861-70. Epub 2007 Jan 30.

PMID:
17263807
3.

Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.

Nakamura H, Sawamura D, Goto M, Nakamura H, Kida M, Ariga T, Sakiyama Y, Tomizawa K, Mitsui H, Tamaki K, Shimizu H.

Int J Mol Med. 2006 Aug;18(2):333-7.

PMID:
16820943
4.

Generalized atrophic benign epidermolysis bullosa.

Darling TN, Bauer JW, Hintner H, Yancey KB.

Adv Dermatol. 1997;13:87-119; discussion 120. Review.

PMID:
9551142
5.

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

Kiritsi D, Kern JS, Schumann H, Kohlhase J, Has C, Bruckner-Tuderman L.

J Med Genet. 2011 Jul;48(7):450-7. doi: 10.1136/jmg.2010.086751. Epub 2011 Feb 28.

PMID:
21357940
6.

Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen.

Pasmooij AM, van der Steege G, Pas HH, Smitt JH, Nijenhuis AM, Zuiderveen J, Jonkman MF.

Br J Dermatol. 2004 Sep;151(3):669-74.

PMID:
15377356
7.

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
8.

Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.

Mabuchi E, Umegaki N, Murota H, Nakamura T, Tamai K, Katayama I.

Br J Dermatol. 2007 Sep;157(3):596-8. Epub 2007 Jun 26.

PMID:
17596158
9.
10.

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.

Yuen WY, Pas HH, Sinke RJ, Jonkman MF.

Br J Dermatol. 2011 Jun;164(6):1280-4. doi: 10.1111/j.1365-2133.2011.10359.x.

PMID:
21466533
11.

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
12.

Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.

Floeth M, Bruckner-Tuderman L.

Am J Hum Genet. 1999 Dec;65(6):1530-7.

13.

Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.

Sproule TJ, Bubier JA, Grandi FC, Sun VZ, Philip VM, McPhee CG, Adkins EB, Sundberg JP, Roopenian DC.

PLoS Genet. 2014 Feb 13;10(2):e1004068. doi: 10.1371/journal.pgen.1004068. eCollection 2014 Feb.

14.

Mutation analysis and molecular genetics of epidermolysis bullosa.

Pulkkinen L, Uitto J.

Matrix Biol. 1999 Feb;18(1):29-42. Review.

PMID:
10367729
15.

Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.

Pasmooij AM, Pas HH, Deviaene FC, Nijenhuis M, Jonkman MF.

Am J Hum Genet. 2005 Nov;77(5):727-40. Epub 2005 Sep 9.

16.

[Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families].

Ayoub N, Tomb R, Charlesworth A, Meneguzzi G.

Ann Dermatol Venereol. 2005 Jun-Jul;132(6-7 Pt 1):550-3. French.

PMID:
16142104
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.

Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.

Bauer JW, Lanschuetzer C.

Clin Exp Dermatol. 2003 Jan;28(1):53-60. Review.

PMID:
12558632
19.

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
20.

Collagen XVII.

Has C, Kern JS.

Dermatol Clin. 2010 Jan;28(1):61-6. doi: 10.1016/j.det.2009.10.007.

PMID:
19945617

Supplemental Content

Support Center