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Items: 1 to 20 of 181

1.

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
2.

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
3.

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
4.

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
5.

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
6.

Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.

Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J, Ortonne JP, Meneguzzi G.

Genomics. 1995 Nov 20;30(2):273-80.

PMID:
8586427
7.

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
8.
9.

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
10.

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5).

Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH Jr, Ortonne JP, et al.

Nat Genet. 1994 Mar;6(3):299-304.

PMID:
8012394
11.

[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
12.
13.
14.

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
15.

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
16.

A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.

Scaturro M, Posteraro P, Mastrogiacomo A, Zaccaria ML, De Luca N, Mazzanti C, Zambruno G, Castiglia D.

Biochem Biophys Res Commun. 2003 Sep 12;309(1):96-103.

PMID:
12943669
17.

DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa.

Cserhalmi-Friedman PB, Yeboa KA, Christiano AM.

Clin Exp Dermatol. 2001 Mar;26(2):205-7.

PMID:
11298117
18.

Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.

Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, Ortonne JP, Meneguzzi G.

Hum Mol Genet. 2001 Oct 1;10(21):2453-61.

PMID:
11689492
19.

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
20.

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

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