Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesionsPARADISI, Mauro; MASSE, Maureen; MARTINEZ-MIR, Amalia et al.EJD. European journal of dermatology. 2005, Vol 15, Num 5, pp 332-338, issn 1167-1122, 7 p.Article

Clinical and pathologic correlations in genetically distinct forms of atrichiaZLOTOGORSKI, Abraham; HOCHBERG, Ze'Ev; MIRMIRANI, Paradi et al.Archives of dermatology (1960). 2003, Vol 139, Num 12, pp 1591-1596, issn 0003-987X, 6 p.Article

De novo mutations in monilethrixHOREV, Liran; DJABALI, Karima; GREEN, Jack et al.Experimental dermatology. 2003, Vol 12, Num 6, pp 882-885, issn 0906-6705, 4 p.Article

Multiple cutaneous and uterine leiomyomas: Refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43MARTINEZ-MIR, Amalia; GORDON, Derek; HOREV, Liran et al.Journal of investigative dermatology. 2002, Vol 118, Num 5, pp 876-880, issn 0022-202XArticle

Evidence for pseudodominant inheritance of atrichia with papular lesionsZLOTOGORSKI, Abraham; MARTINEZ-MIR, Amalia; GREEN, Jack et al.Journal of investigative dermatology. 2002, Vol 118, Num 5, pp 881-886, issn 0022-202XArticle

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophyNAKABAYASHI, Kazuhiko; AMANN, Daniela; SALAS-ALANIS, Julio C et al.American journal of human genetics. 2005, Vol 76, Num 3, pp 510-516, issn 0002-9297, 7 p.Article

Maternal germline mosaicism in dominant dystrophic epidermolysis bullosaCSERHALMI-FREDMAN, Peter B; GARZON, Maria C; GUZMAN, Edwin et al.Journal of investigative dermatology. 2001, Vol 117, Num 5, pp 1327-1328, issn 0022-202X, 2 p.Article

Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areataMARTINEZ-MIR, Amalia; ZLOTOGORSKI, Abraham; NANOVA, Krassimira et al.American journal of human genetics. 2007, Vol 80, Num 2, pp 316-328, issn 0002-9297, 13 p.Article

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutationPETUKHOVA, Lynn; SOUSA, Edilson C; MARTINEZ-MIR, Amalia et al.Genomics (San Diego, Calif.). 2008, Vol 92, Num 5, pp 273-278, issn 0888-7543, 6 p.Article

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomataCHUANG, Gary S; MARTINEZ-MIR, Amalia; CID, Manuel Prieto et al.Journal of the American Academy of Dermatology. 2005, Vol 52, Num 3, pp 410-416, issn 0190-9622, 7 p.Article

Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomataMARTINEZ-MIR, Amalia; GLASER, Benjamin; CHRISTIANO, Angela M et al.Journal of investigative dermatology. 2003, Vol 121, Num 4, pp 741-744, issn 0022-202X, 4 p.Article