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Amalia Martinez-Mir

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Amalia Martinez-Mir; Reposo Ramírez-Lorca; Agustín Ruiz; María Eugenia Sáez; Francisco G Scholl; Carmen Antúnez; Mercè Boada; Evaristo Fernández; Javier Gayán; Antonio González-Pérez; Jesús María Lopez-Arrieta; Juan Marín; Luis Miguel Real
Genetic study of neurexin and neuroligin genes in Alzheimer's disease.
Rafael J Camacho-Garcia; Mar Margalef; Rafael Martínez-Leal; Amalia Martinez-Mir; Maria L Pecero; Maria Inmaculada Planelles; Francisco Aguilera; Elisabet Vilella; Francisco G Scholl
Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.
Lynn Petukhova; Edilson C Sousa; Amalia Martinez-Mir; Anna Vitebsky; Lina G Dos Santos; Lawrence Shapiro; Chad Haynes; Derek Gordon; Yutaka Shimomura; Angela M Christiano
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

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All Publications

2013: Amalia Martinez-Mir; Reposo Ramírez-Lorca; Agustín Ruiz; María Eugenia Sáez; Francisco G Scholl; Carmen Antúnez; Mercè Boada; Evaristo Fernández; Javier Gayán; Antonio González-Pérez; Jesús María Lopez-Arrieta; Juan Marín; Luis Miguel Real
Genetic study of neurexin and neuroligin genes in Alzheimer's disease.
Journal of Alzheimer's disease : JAD 2013;35(2):403-12.
2012: Rafael J Camacho-Garcia; Mar Margalef; Rafael Martínez-Leal; Amalia Martinez-Mir; Maria L Pecero; Maria Inmaculada Planelles; Francisco Aguilera; Elisabet Vilella; Francisco G Scholl
Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation.
Neurobiology of disease 2012;47(1):135-43.
2008: Lynn Petukhova; Edilson C Sousa; Amalia Martinez-Mir; Anna Vitebsky; Lina G Dos Santos; Lawrence Shapiro; Chad Haynes; Derek Gordon; Yutaka Shimomura; Angela M Christiano
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
Genomics 2008;92(5):273-8.
2007: Eleni Michailidis; Amy Theos; Abraham Zlotogorski; Amalia Martinez-Mir; Angela M Christiano
Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene.
Pediatric dermatology 2007;24(5):E79-82.
2007: Amalia Martinez-Mir; Abraham Zlotogorski; Derek Gordon; Lynn Petukhova; Jianhong Mo; T Conrad Gilliam; Douglas Londono; Chad Haynes; Jurg Ott; Maria Hordinsky; Krassimira Nanova; David Norris; Vera H Price; Madeleine Duvic; Angela M Christiano
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.
American journal of human genetics 2007;80(2):316-28.
2006: G Ashoor; Maureen Massé; L M García Luciano; R Sheffer; Amalia Martinez-Mir; Angela M Christiano; Abraham Zlotogorski
A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
The British journal of dermatology 2006;155(1):198-200.
2006: Gary S Chuang; Amalia Martinez-Mir; Danielle E Engler; Robyn F Gmyrek; Abraham Zlotogorski; Angela M Christiano
Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.
Clinical and experimental dermatology 2006;31(1):118-21.
2005: Amalia Martinez-Mir; Abraham Zlotogorski; Angela M Christiano
Search for susceptibility genes in alopecia areata.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(3):281-2.
2005: Hisham Bazzi; Amalia Martinez-Mir; Ana Kljuic; Angela M Christiano
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(3):222-4.
2005: Ghalia G Ashoor; Robert M Greenstein; HaMut Lam; Amalia Martinez-Mir; Abraham Zlotogorski; Angela M Christiano
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.
Journal of dermatological science 2005;40(1):29-33.
2005: Mauro Paradisi; Maureen Massé; Amalia Martinez-Mir; HaMut Lam; Cristina Pedicelli; Angela M Christiano
Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.
European journal of dermatology : EJD 2005;15(5):332-8.
2005: Maureen Massé; Amalia Martinez-Mir; HaMut Lam; M T Geraghty; Angela M Christiano
Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions.
Clinical and experimental dermatology 2005;30(4):363-5.
2005: Maureen Massé; Peter B Cserhalmi-Friedman; V Falanga; Julide Tok Celebi; Amalia Martinez-Mir; Angela M Christiano
Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.
Clinical and experimental dermatology 2005;30(3):289-93.
2005: Gary S Chuang; Amalia Martinez-Mir; Adam S Geyer; Danielle E Engler; Benjamin Glaser; Peter B Cserhalmi-Friedman; Derek Gordon; Liran Horev; Barbara Lukash; Eric Herman; Manuel Prieto Cid; Sarah Brenner; Marina Landau; Eli Sprecher; Maria Pilar Garcia Muret; Angela M Christiano; Abraham Zlotogorski
Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.
Journal of the American Academy of Dermatology 2005;52(3 Pt 1):410-6.
2005: Kazuhiko Nakabayashi; Daniela Amann; Yan Ren; Ulpu Saarialho-Kere; Nili Avidan; Simone Gentles; Jeffrey R MacDonald; Erik G Puffenberger; Angela M Christiano; Amalia Martinez-Mir; Julio C Salas-Alanis; Renata Rizzo; Esther Vamos; Anja Raams; Clifford M Les; Eric Seboun; Nicolaas G J Jaspers; Jacques Beckmann; Charles E Jackson; Stephen W Scherer
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
American journal of human genetics 2005;76(3):510-6.
2005: Ien Chan; T Wong; Amalia Martinez-Mir; Angela M Christiano; John A McGrath
Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
Clinical and experimental dermatology 2005;30(1):75-8.
2004: Celia Moss; Amalia Martinez-Mir; HaMut Lam; Marija Tadin-Strapps; Ana Kljuic; Angela M Christiano
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.
The Journal of investigative dermatology 2004;123(3):607-10.
2004: Gary S Chuang; Amalia Martinez-Mir; H-S Yu; F-Y Sung; R Y Chuang; Peter B Cserhalmi-Friedman; Angela M Christiano
A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
Clinical and experimental dermatology 2004;29(3):304-7.
2003: Liran Horev; Karima Djabali; Jack Green; Rodney Sinclair; Amalia Martinez-Mir; Arieh Ingber; Angela M Christiano; Abraham Zlotogorski
De novo mutations in monilethrix.
Experimental dermatology 2003;12(6):882-5.
2003: Amalia Martinez-Mir; Abraham Zlotogorski; D Londono; Derek Gordon; Adina Grunn; E Uribe; Liran Horev; I M Ruiz; N O Davalos; O Alayan; Jianjun Liu; T Conrad Gilliam; Julio C Salas-Alanis; Angela M Christiano
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
Journal of medical genetics 2003;40(12):872-8.
2003: Abraham Zlotogorski; Ze'ev Hochberg; Paradi Mirmirani; Aryeh Metzker; Dan Ben-Amitai; Amalia Martinez-Mir; Andrey Panteleyev; Angela M Christiano
Clinical and pathologic correlations in genetically distinct forms of atrichia.
Archives of dermatology 2003;139(12):1591-6.
2003: Amalia Martinez-Mir; Benjamin Glaser; Gary S Chuang; Liran Horev; Arie Waldman; Danielle E Engler; Derek Gordon; Lynda J Spelman; Ioannis Hatzibougias; Jack Green; Angela M Christiano; Abraham Zlotogorski
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
The Journal of investigative dermatology 2003;121(4):741-4.
2003: Amalia Martinez-Mir; Abraham Zlotogorski; Jurg Ott; Derek Gordon; Angela M Christiano
Genetic linkage studies in alopecia areata.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2003;8(2):199-203.
2003: Mauro Paradisi; Gary S Chuang; Corrado Angelo; Cristina Pedicelli; Amalia Martinez-Mir; Angela M Christiano
Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene.
Clinical and experimental dermatology 2003;28(5):535-8.
2003: Ana Kljuic; Leon Gilead; Amalia Martinez-Mir; Jorge Frank; Angela M Christiano; Abraham Zlotogorski
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma.
Experimental dermatology 2003;12(4):523-7.
2003: Amy S Paller; George Varigos; Aryeh Metzker; Robert C Bauer; Jacinta Opie; Amalia Martinez-Mir; Angela M Christiano; Abraham Zlotogorski
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.
The Journal of investigative dermatology 2003;121(2):430-2.
2003: Guofang Hu; Mehmet Yildirim; Vahide Baysal; Ozlem Yerebakan; Ertan Yilmaz; H Serhat Inaloz; Amalia Martinez-Mir; Angela M Christiano; Julide Tok Celebi
A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.
The Journal of investigative dermatology 2003;120(6):967-9.
2003: Marija Tadin-Strapps; Julio C Salas-Alanis; L Moreno; Dorothy Warburton; Amalia Martinez-Mir; Angela M Christiano
Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait.
Clinical genetics 2003;63(5):418-22.
2003: Ana Kljuic; Hisham Bazzi; John P Sundberg; Amalia Martinez-Mir; Ryan O'Shaughnessy; My G Mahoney; Moise Levy; Xavier Montagutelli; Wasim Ahmad; Vincent M Aita; Derek Gordon; Jouni Uitto; David Whiting; Jurg Ott; Stuart Fischer; T Conrad Gilliam; Colin A B Jahoda; Rebecca J Morris; Andrey Panteleyev; Vu Thuong Nguyen; Angela M Christiano
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.
Cell 2003;113(2):249-60.
2003: Liran Horev; T Waran Lalin; Amalia Martinez-Mir; Bita Bagheri; Marija Tadin-Strapps; Paul Schneiderman; Marc E Grossman; D R Bickers; Angela M Christiano
Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency.
Clinical and experimental dermatology 2003;28(1):80-4.
2002: Wolfram Henn; Abraham Zlotogorski; HaMut Lam; Amalia Martinez-Mir; Hansotto Zaun; Angela M Christiano
Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis.
Journal of the American Academy of Dermatology 2002;47(4):519-23.
2002: Abraham Zlotogorski; Amalia Martinez-Mir; Jack Green; HaMut Lamdagger; Andrei A Panteleyevdagger; Rodney Sinclair; Angela M Christiano
Evidence for pseudodominant inheritance of atrichia with papular lesions.
The Journal of investigative dermatology 2002;118(5):881-6.
2002: Amalia Martinez-Mir; Derek Gordon; Liran Horev; Laurent Klapholz; Jurg Ott; Angela M Christiano; Abraham Zlotogorski
Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43.
The Journal of investigative dermatology 2002;118(5):876-80.
2002: Karima Djabali; Amalia Martinez-Mir; Liran Horev; Angela M Christiano; Abraham Zlotogorski
Evidence for extensive locus heterogeneity in Naxos disease.
The Journal of investigative dermatology 2002;118(3):557-60.
2002: Amalia Martinez-Mir; Jianjun Liu; Derek Gordon; Madeline S Weiner; Wasim Ahmad; Jo-David Fine; Jurg Ott; T Conrad Gilliam; Angela M Christiano
EB simplex superficialis resulting from a mutation in the type VII collagen gene.
The Journal of investigative dermatology 2002;118(3):547-9.
2001: Peter B Cserhalmi-Friedman; Maria C Garzon; E Guzman; Amalia Martinez-Mir; Wendy Chung; Kwame Anyane-Yeboa; Angela M Christiano
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2001;117(5):1327-8.