Martinez-Mir A - Search Results

1

Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.

Cserhalmi-Friedman PB, Garzon MC, Guzman E, Martinez-Mir A, Chung WK, Anyane-Yeboa K, Christiano AM. Cserhalmi-Friedman PB, et al. J Invest Dermatol. 2001 Nov;117(5):1327-8. doi: 10.1046/j.0022-202x.2001.01558.x. J Invest Dermatol. 2001. PMID: 11710955 Free article. No abstract available.

2

Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency.

Horev L, Waran Lalin T, Martinez-Mir A, Bagheri BA, Tadin-Strapps M, Schneiderman PI, Grossman ME, Bickers DR, Christiano AM. Horev L, et al. Clin Exp Dermatol. 2003 Jan;28(1):80-4. doi: 10.1046/j.1365-2230.2003.01190.x. Clin Exp Dermatol. 2003. PMID: 12558638 Free article.

3

A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.

Chuang GS, Martinez-Mir A, Yu HS, Sung FY, Chuang RY, Cserhalmi-Friedman PB, Christiano AM. Chuang GS, et al. Clin Exp Dermatol. 2004 May;29(3):304-7. doi: 10.1111/j.1365-2230.2004.01495.x. Clin Exp Dermatol. 2004. PMID: 15115517 Free article.

4

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.

Massé M, Cserhalmi-Friedman PB, Falanga V, Celebi JT, Martinez-Mir A, Christiano AM. Massé M, et al. Clin Exp Dermatol. 2005 May;30(3):289-93. doi: 10.1111/j.1365-2230.2005.01763.x. Clin Exp Dermatol. 2005. PMID: 15807692

5

EB simplex superficialis resulting from a mutation in the type VII collagen gene.

Martinez-Mir A, Liu J, Gordon D, Weiner MS, Ahmad W, Fine JD, Ott J, Gilliam TC, Christiano AM. Martinez-Mir A, et al. J Invest Dermatol. 2002 Mar;118(3):547-9. doi: 10.1046/j.0022-202x.2001.01702.x. J Invest Dermatol. 2002. PMID: 11874498 Free article. No abstract available.

6

Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.

Martinez-Mir A, Glaser B, Chuang GS, Horev L, Waldman A, Engler DE, Gordon D, Spelman LJ, Hatzibougias I, Green J, Christiano AM, Zlotogorski A. Martinez-Mir A, et al. J Invest Dermatol. 2003 Oct;121(4):741-4. doi: 10.1046/j.1523-1747.2003.12499.x. J Invest Dermatol. 2003. PMID: 14632190 Free article.

7

Search for susceptibility genes in alopecia areata.

Martinez-Mir A, Zlotogorski A, Christiano AM. Martinez-Mir A, et al. J Investig Dermatol Symp Proc. 2005 Dec;10(3):281-2. doi: 10.1111/j.0022-202X.2005.10130_3.x. J Investig Dermatol Symp Proc. 2005. PMID: 16402481 Free article. No abstract available.

8

Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.

Paller AS, Varigos G, Metzker A, Bauer RC, Opie J, Martinez-Mir A, Christiano AM, Zlotogorski A. Paller AS, et al. J Invest Dermatol. 2003 Aug;121(2):430-2. doi: 10.1046/j.1523-1747.2003.12370.x. J Invest Dermatol. 2003. PMID: 12880440 Free article. No abstract available.

9

Evidence for extensive locus heterogeneity in Naxos disease.

Djabali K, Martinez-Mir A, Horev L, Christiano AM, Zlotogorski A. Djabali K, et al. J Invest Dermatol. 2002 Mar;118(3):557-60. doi: 10.1046/j.0022-202x.2001.01627.x. J Invest Dermatol. 2002. PMID: 11874502 Free article. No abstract available.

10

Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43.

Martinez-Mir A, Gordon D, Horev L, Klapholz L, Ott J, Christiano AM, Zlotogorski A. Martinez-Mir A, et al. J Invest Dermatol. 2002 May;118(5):876-80. doi: 10.1046/j.1523-1747.2002.01741.x. J Invest Dermatol. 2002. PMID: 11982768 Free article.

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