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Browsing by Author Martínez Mir, Amalia

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessFeb-1998A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33Bayés, Mónica; Goldaracena, Begoña; Martínez Mir, Amalia ; Iragui-Madoz, María Ingancia; Solans, Teresa; Chivelet, Pilar; Bussaglia, Elena; Ramos-Arroyo, María Antonia; Baiget, Montserrat; Vilageliu, L.; Balcells, Susana; González-Duarte, Roser; Grinberg, DanielArtículo
openAccessAMM_Genomics 40(1)142-146 (1997) PMID 9070931.pdf.jpgFeb-1997A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21Martínez Mir, Amalia ; Bayés, Mónica; Vilageliu, L.; Grinberg, Daniel; Ayuso, Carmen; Río, Teresa del; García-Sandoval, Blanca; Bussaglia, Elena; Baiget, Montserrat; González-Duarte, Roser; Balcells, SusanaArtículo
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
openAccessAMM_Clin Exp Dermatol 29(3) 304-307 (2004) PMID 15115517.pdf.jpg9-May-2004A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosaChuang, G. S.; Martínez Mir, Amalia ; Yu, H.-S.; Sung, F.-Y.; Chuang, R. Y.; Cserhalmi-Friedman, P. B.; Christiano, Angela M.Artículo
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
openAccessRecurrent_2004.pdf.jpg6-Aug-2004A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive HypotrichosisMoss, Celia; Martínez Mir, Amalia ; Lam, H.; Tadin-Strapps, M.; Kljuic, Ana; Christiano, Angela M.Artículo
openAccessRecurrent Mutation_2003.pdf.jpg2003A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder EffectHu, Guofang; Yildirim, Mehmet; Baysal, Vahide; Yerebakan, Ozlem; Yilmaz, Ertan; Inaloz, H. Sherhat; Martínez Mir, Amalia ; Christiano, Angela M.; Tok Çelebi, JulideArtículo
closedAccess30-Jan-2007A recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish familiesO'Regan, G. M.; Zurada, J.; Martínez Mir, Amalia ; Christiano, Angela M.; Irvine, A. D.Artículo
closedAccessaccesoRestringido.pdf.jpgDec-2015A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic functionTristán Clavijo, E. ; Camacho García, R. J. ; Robles Lanuza, Estefanía ; Ruiz, Agustín; van der Zee, Julie; van Broeckhoven, Christine; Hernández, Isabel; Martínez Mir, Amalia ; Scholl, Francisco G.Artículo
closedAccess19-Nov-2002Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophiesPaloma, Eva; Coco, Rosa; Martínez Mir, Amalia ; Vilageliu, L.; Balcells, Susana; González-Duarte, RoserArtículo
closedAccess1-Apr-2004Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy PopulationAdriani, M.; Martínez Mir, Amalia ; Fusco, F.; Busiello, R.; Frank, Jorge; Telese, S.; Matrecano, E.; Ursini, M. V.; Christiano, Angela M.; Pignata, C.Artículo
closedAccessaccesoRestringido.pdf.jpgSep-2015Aproximaciones genéticas para el estudio de enfermedades mentalesMartínez Mir, Amalia Comunicación de congreso
closedAccess23-Jul-2003Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless geneParadisi, M.; Chuang, G. S.; Angelo, C.; Pedicelli, Cristina; Martínez Mir, Amalia ; Christiano, Angela M.Artículo
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
closedAccessaccesoRestringido.pdf.jpgSep-2013Autistic-like behavior in a mouse model with impaired ß-neurexin-1 functionRabaneda, Luis G. ; Robles Lanuza, Estefanía ; Páez Gómez, Juan Antonio ; Gómez Scholl, F. ; Martínez Mir, Amalia Póster
openAccessAMM_Clin Genet 50(5)380-387 (1996) PMID 9007328.pdf.jpgNov-1996Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the diseaseBayés, Mónica; Martínez Mir, Amalia ; Valverde, Diana; Río, E. del; Vilageliu, L.; Grinberg, Daniel; Balcells, Susana; Ayuso, Carmen; Baiget, Montserrat; González-Duarte, RoserArtículo
openAccessAMM_Genetics chapter, Dermatology.pdf.jpg2003Basic principles of GeneticsMartínez Mir, Amalia ; Christiano, Angela M.Capítulo de libro
closedAccess6-Nov-2001Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineageMartínez Mir, Amalia ; Cañestro, Cristian; González-Duarte, Roser; Albalat, RicardArtículo
openAccessextracellular_matrix_protein_Mondejar.pdf.jpgJan-2014Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosisMondéjar, Rufino; García-Moreno, José Manuel; Rubio, Rocío; Solano, Francisca; Delgado, Mercedes; García-Bravo, Begoña; Ríos-Martín, Juan José; Martínez Mir, Amalia ; Lucas, MiguelArtículo