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Items: 1 to 20 of 110

1.

Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa.

Fassihi H, Liu L, Renwick PJ, Braude PR, McGrath JA.

Br J Dermatol. 2010 Jun;162(6):1330-6. doi: 10.1111/j.1365-2133.2010.09701.x. Epub 2010 Feb 15.

PMID:
20163412
2.

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

Christiano AM, Pulkkinen L, McGrath JA, Uitto J.

Prenat Diagn. 1997 Apr;17(4):343-54.

PMID:
9160387
4.

Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.

Renwick P, Trussler J, Lashwood A, Braude P, Ogilvie CM.

Reprod Biomed Online. 2010 Apr;20(4):470-6. doi: 10.1016/j.rbmo.2010.01.006. Epub 2010 Jan 11.

PMID:
20144563
5.

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
6.

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
7.

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
8.

Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa.

Cserhalmi-Friedman PB, Tang Y, Adler A, Krey L, Grifo JA, Christiano AM.

Exp Dermatol. 2000 Aug;9(4):290-7.

PMID:
10949552
9.

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.

Fassihi H, Ashton GH, Denyer J, Mellerio JE, Mason G, McGrath JA.

Clin Exp Dermatol. 2005 Mar;30(2):180-2.

PMID:
15725250
10.

Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects.

Hauschild R, Wollina U, Bruckner-Tuderman L.

J Eur Acad Dermatol Venereol. 2001 Jan;15(1):73-6.

PMID:
11451332
11.
12.

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
13.

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
14.

Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents.

Jiang QJ, Izakovic J, Zenker M, Fartasch M, Meneguzzi G, Rascher W, Schneider H.

J Pediatr. 2002 Oct;141(4):553-9.

PMID:
12378197
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.

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa.

Cserhalmi-Friedman PB, Anyane-Yeboa K, Christiano AM.

Exp Dermatol. 2002 Oct;11(5):468-70.

PMID:
12366701
17.

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis.

Marinkovich MP, Meneguzzi G, Burgeson RE, Blanchet-Bardon C, Holbrook KA, Smith LT, Christiano AM, Ortonne JP.

Prenat Diagn. 1995 Nov;15(11):1027-34.

PMID:
8606881
18.

IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa.

Kuster JE, Guarnieri MH, Ault JG, Flaherty L, Swiatek PJ.

Mamm Genome. 1997 Sep;8(9):673-81.

PMID:
9271670
19.

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
20.

Alpha-fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant.

Shulman LP, Elias S, Andersen RN, Phillips OP, Milunsky A, Holbrook KA, Smith LT, Fine JD, Simpson JL.

Prenat Diagn. 1991 Nov;11(11):813-8.

PMID:
1721712

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