Mostrando resultados 1 a 20 de 39
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| closedAccess | | 20-ago-2003 | A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma | Kljuic, Ana; Gilead, Leon; Martínez Mir, Amalia CSIC ORCID; Frank, Jorge; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
| openAccess |  | 9-may-2004 | A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa | Chuang, G. S.; Martínez Mir, Amalia CSIC ORCID; Yu, H.-S.; Sung, F.-Y.; Chuang, R. Y.; Cserhalmi-Friedman, P. B.; Christiano, Angela M. | artículo |
| closedAccess | | 14-mar-2006 | A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma | Ashoor, G.; Massé, M.; García Luciano, L. M.; Sheffer, R.; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
| openAccess |  | 6-ago-2004 | A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis | Moss, Celia; Martínez Mir, Amalia CSIC ORCID; Lam, H.; Tadin-Strapps, M.; Kljuic, Ana; Christiano, Angela M. | artículo |
| openAccess |  | 2003 | A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect | Hu, Guofang; Yildirim, Mehmet; Baysal, Vahide; Yerebakan, Ozlem; Yilmaz, Ertan; Inaloz, H. Sherhat; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Tok Çelebi, Julide | artículo |
| closedAccess | | 30-ene-2007 | A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families | O'Regan, G. M.; Zurada, J.; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Irvine, A. D. | artículo |
| closedAccess | | 1-abr-2004 | Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population | Adriani, M.; Martínez Mir, Amalia CSIC ORCID; Fusco, Francesca; Busiello, R.; Frank, Jorge; Telese, S.; Matrecano, E.; Ursini, Matilde Valeria; Christiano, Angela M.; Pignata, C. | artículo |
| closedAccess | | 23-jul-2003 | Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene | Paradisi, M.; Chuang, G. S.; Angelo, C.; Pedicelli, Cristina; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | artículo |
| closedAccess | | 5-oct-2002 | Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis | Henn, Wolfram; Zlotogorski, Abraham; Lam, H.; Martínez Mir, Amalia CSIC ORCID; Zaun, Hansotto; Christiano, Angela M. | artículo |
| closedAccess | | 6-ago-2007 | Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene | Michailidis, Eleni; Theos, Amy; Zlotogorski, Abraham; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | artículo |
| openAccess |  | 2003 | Basic principles of Genetics | Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | capítulo de libro |
| openAccess |  | dic-2003 | Clinical and Pathologic Correlations in Genetically Distinct Forms of Atrichia | Zlotogorski, Abraham; Hockberg, Ze'ev; Mirmirani, Paradi; Metzker, Arye; Ben-Amitai, Dan; Martínez Mir, Amalia CSIC ORCID; Panteleyev, Andrei A.; Christiano, Angela M. | artículo |
| openAccess |  | ago-2003 | Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions | Paller, Amy S.; Varigos, George; Metzker, Arye; Bauer, Robert C.; Opie, Jacinta; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
| closedAccess | | 7-may-2003 | Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait | Tadin-Strapps, M.; Salas-Alanis, J. C.; Moreno, L.; Warburton, D.; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | artículo |
| closedAccess | | 10-dic-2003 | De novo mutations in monilethrix | Horev, Liran; Djabali, Karima; Green, Jack; Sinclair, Rodney; Martínez Mir, Amalia CSIC ORCID; Ingber, Arieh; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
| closedAccess | | 2006 | Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene | Poblete-Gutiérrez, P.; Wiederholt, T.; Martínez Mir, Amalia CSIC ORCID; Merk, H. F.; Connor, J. M.; Christiano, Angela M.; Frank, Jorge | artículo |
| closedAccess | | 18-abr-2003 | Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion: Evidence from Inherited Hypotrichosis and Acquired Pemphigus Vulgaris | Kljuic, Ana; Bazzi, Hisham; Sundberg, John P.; Martínez Mir, Amalia CSIC ORCID; O'Shaughnessy, Ryan; Mahoney, My G.; Levy, Moise; Montagutelli, Xavier; Ahmad, Wasim; Aita, Vincent M.; Gordon, Derek; Uitto, Jouni; Whiting, David; Ott, Jurg; Fischer, Stuart; Gilliam, T. Conrad; Jahoda, Colin A. B.; Morris, Rebecca J.; Panteleyev, Andrei A.; Nguyen, Vu Thuong; Christiano, Angela M. | artículo |
| closedAccess | | 2005 | Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats | Bazzi, Hisham; Martínez Mir, Amalia CSIC ORCID; Kljuic, Ana; Christiano, Angela M. | artículo |
| openAccess |  | mar-2002 | EB Simplex Superficialis Resulting from a Mutation in the Type VII Collagen Gene | Martínez Mir, Amalia CSIC ORCID; Liu, Jianjun; Gordon, Derek; Weiner, Madeline S.; Ahmad, Wasim; Fine, Jo-David; Ott, Jurg; Gilliam, T. Conrad; Christiano, Angela M. | artículo |
| openAccess |  | mar-2002 | Evidence for Extensive Locus Heterogeneity in Naxos Disease | Djabali, Karima; Martínez Mir, Amalia CSIC ORCID; Horev, Liran; Klapholz, Laurent; Glaser, Benjamin; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
