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Browsing by Author Zlotogorski, Abraham

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Showing results 1 to 20 of 20
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccess20-Aug-2003A nonsense mutation in the desmoglein 1 gene underlies striate keratodermaKljuic, Ana; Gilead, Leon; Martínez Mir, Amalia ; Frank, Jorge; Christiano, Angela M.; Zlotogorski, Abrahamartículo
closedAccess14-Mar-2006A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythrodermaAshoor, G.; Massé, M.; García Luciano, L. M.; Sheffer, R.; Martínez Mir, Amalia ; Christiano, Angela M.; Zlotogorski, Abrahamartículo
closedAccess5-Oct-2002Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalisHenn, Wolfram; Zlotogorski, Abraham; Lam, H.; Martínez Mir, Amalia ; Zaun, Hansotto; Christiano, Angela M.artículo
closedAccess6-Aug-2007Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless GeneMichailidis, Eleni; Theos, Amy; Zlotogorski, Abraham; Martínez Mir, Amalia ; Christiano, Angela M.artículo
openAccessClinical_2003.pdf.jpgDec-2003Clinical and Pathologic Correlations in Genetically Distinct Forms of AtrichiaZlotogorski, Abraham; Hockberg, Ze'ev; Mirmirani, Paradi; Metzker, Arye; Ben-Amitai, Dan; Martínez Mir, Amalia ; Panteleyev, Andrei A.; Christiano, Angela M.artículo
openAccessCompound_2003.pdf.jpgAug-2003Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular LesionsPaller, Amy S.; Varigos, George; Metzker, Arye; Bauer, Robert C.; Opie, Jacinta; Martínez Mir, Amalia ; Christiano, Angela M.; Zlotogorski, Abrahamartículo
closedAccess10-Dec-2003De novo mutations in monilethrixHorev, Liran; Djabali, Karima; Green, Jack; Sinclair, Rodney; Martínez Mir, Amalia ; Ingber, Arieh; Christiano, Angela M.; Zlotogorski, Abrahamartículo
openAccessEvidence_2002.pdf.jpgMar-2002Evidence for Extensive Locus Heterogeneity in Naxos DiseaseDjabali, Karima; Martínez Mir, Amalia ; Horev, Liran; Klapholz, Laurent; Glaser, Benjamin; Christiano, Angela M.; Zlotogorski, Abrahamartículo
openAccessEvidence_2_2002.pdf.jpg2002Evidence for Pseudodominant Inheritance of Atrichia with Papular LesionsZlotogorski, Abraham; Martínez Mir, Amalia ; Green, Jack; Lam, H.; Panteleyev, Andrei A.; Sinclair, Rodney; Christiano, Angela M.artículo
openAccessAMM_Martinez-Mir-et-al.pdf.jpg2003Genetic Linkage Studies in Alopecia AreataMartínez Mir, Amalia ; Zlotogorski, Abraham; Ott, Jurg; Gordon, Derek; Christiano, Angela M.artículo
closedAccessFeb-2007Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia AreataMartínez Mir, Amalia ; Zlotogorski, Abraham; Gordon, Derek; Petukhova, Lynn; Mo, Jianhong; Gilliam, T. Conrad; Londono, Douglas; Haynes, Chad; Ott, Jurg; Hordinsky, María; Nanova, Krassimira; Norris, David; Price, Vera; Duvic, Madeleine; Christiano, Angela M.artículo
openAccessAMM_J Am Acad Dermatol 52(3 Pt1) 410-416 (2005) PMID 15761418.pdf.jpg2-Mar-2005Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomataChuang, G. S.; Martínez Mir, Amalia ; Geyer, Adam; Engler, Danielle E.; Glaser, Benjamin; Cserhalmi-Friedman, P. B.; Gordon, Derek; Horev, Liran; Lukash, Barbara; Herman, Eric; Prieto Cid, Manuel; Brenner, Sarah; Landau, Marina; Sprecher, Eli; García Muret, María Pilar; Christiano, Angela M.; Zlotogorski, Abrahamartículo
openAccessGermline_2003.pdf.jpgOct-2003Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine LeiomyomataMartínez Mir, Amalia ; Glaser, Benjamin; Chuang, G. S.; Horev, Liran; Waldman, Arie; Engler, Danielle E.; Gordon, Derek; Spelman, Lynda J.; Hatzibougias, Ioannis; Green, Jack; Christiano, Angela M.; Zlotogorski, Abrahamartículo
openAccessAMM_ J Med Genet 40(12) 872-878 (2003) PMID 14684683.pdf.jpgDec-2003Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Martínez Mir, Amalia ; Zlotogorski, Abraham; Londono, Douglas; Gordon, Derek; Grunn, A.; Uribe, E.; Horev, Liran; Ruiz, I. M.; Davalos, N. O.; Alayan, O.; Liu, Jianjun; Gilliam, T. Conrad; Salas-Alanis, J. C.; Christiano, Angela M.artículo
closedAccessaccesoRestringido.pdf.jpgJun-2014Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratodermaFurniss, Megan; Higgins, Claire A.; Martínez Mir, Amalia ; Horev, Liran; Petukhova, Lynn; Stanimirović, Andrija; Miljković, Jovan; Zlotogorski, Abraham; Christiano, Angela M.artículo
openAccessMultiple_2002.pdf.jpg2002Multiple Cutaneous and Uterine Leiomyomas: Refinement of the Genetic Locus for Multiple Cutaneous and Uterine Leiomyomas on Chromosome 1q42.3–43Martínez Mir, Amalia ; Gordon, Derek; Horev, Liran; Klapholz, Laurent; Ott, Jurg; Christiano, Angela M.; Zlotogorski, Abrahamartículo
closedAccess16-Nov-2005Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase geneChuang, G. S.; Martínez Mir, Amalia ; Engler, Danielle E.; Gmyrek, R. F.; Zlotogorski, Abraham; Christiano, Angela M.artículo
closedAccess14-Jul-2005Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesionsAshoor, G.; Greenstein, Robert M.; Lam, H.; Martínez Mir, Amalia ; Zlotogorski, Abraham; Christiano, Angela M.artículo
openAccessAlopecia_areata_2005.pdf.jpg2005Search for Susceptibility Genes in Alopecia AreataMartínez Mir, Amalia ; Zlotogorski, Abraham; Christiano, Angela M.comunicación de congreso
closedAccess3-Nov-2009The H syndrome: Two novel mutations affecting the same amino acid residue of hENT3Molho-Pessach, Vered; Suarez, José; Perrin, Christophe; Chiaverini, Christine; Doviner, Victoria; Tristán Clavijo, E. ; Colmenero, Isabel; Giuliano, Fabienne; Torrelo, Antonio; Zlotogorski, Abrahamartículo