A. Martinez-Mir

发表

Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.

A. Christiano, A. Paller, G. Varigos, 2003, The Journal of investigative dermatology.

Atrichia with Papular Lesions Resulting from Novel Compound Heterozygous Mutations in the Human Hairless Gene

A. Christiano, A. Theos, A. Martinez-Mir, 2007, Pediatric dermatology.

A recurrent splice‐site mutation in the human hairless gene underlies congenital atrichia in Irish families

A. Christiano, A. Irvine, A. Martinez-Mir, 2007, The British journal of dermatology.

Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions.

A. Christiano, A. Martinez-Mir, A. Zlotogorski, 2005, Journal of dermatological science.

Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions

A. Christiano, A. Martinez-Mir, H. Lam, 2005, Clinical and experimental dermatology.

Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene

A. Christiano, A. Martinez-Mir, M. Paradisi, 2003, Clinical and experimental dermatology.

Evidence for pseudodominant inheritance of atrichia with papular lesions.

A. Christiano, Jack Green, R. Sinclair, 2002, The Journal of investigative dermatology.

Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis.

A. Christiano, W. Henn, A. Martinez-Mir, 2002, Journal of the American Academy of Dermatology.

Genetic study of neurexin and neuroligin genes in Alzheimer's disease.

A. Ruiz, M. Boada, C. Antunez, 2013, Journal of Alzheimer's disease : JAD.

Evidence for extensive locus heterogeneity in Naxos disease.

A. Christiano, A. Martinez-Mir, A. Zlotogorski, 2002, The Journal of investigative dermatology.

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.

J. R. MacDonald, S. Scherer, J. Beckmann, 2005, American journal of human genetics.

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identi fi es a novel P 2 RY 5 mutation

C. Haynes, G. Lina, D. Gordon, 2008 .

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

C. Haynes, D. Gordon, L. Shapiro, 2008, Genomics.

Clinical and pathologic correlations in genetically distinct forms of atrichia.

D. Ben-Amitai, A. Christiano, Z. Hochberg, 2003, Archives of dermatology.

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies

S. Balcells, A. Martinez-Mir, R. Gonzàlez-Duarte, 2002, Human mutation.

Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.

H. Bazzi, A. Christiano, A. Martinez-Mir, 2005, The journal of investigative dermatology. Symposium proceedings.

A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

A. Christiano, A. Martinez-Mir, H. Lam, 2004, The Journal of investigative dermatology.

A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma

A. Christiano, J. Frank, A. Martinez-Mir, 2003, Experimental dermatology.

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X‐linked trait

A. Christiano, A. Martinez-Mir, A. Christiano, 2003, Clinical genetics.

A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.

A. Christiano, A. Martinez-Mir, E. Yılmaz, 2003, The Journal of investigative dermatology.

De novo mutations in monilethrix

A. Christiano, Jack Green, R. Sinclair, 2003, Experimental dermatology.

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

A. Christiano, A. Martinez-Mir, A. Zlotogorski, 2014 .

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

G. Izquierdo, A. Martinez-Mir, A. Gónzalez-Meneses, 2014, PloS one.

Genetic study of NRXN1β variants in Spanish patients with schizophrenia

C. Orejuela, R. Martínez-Leal, E. Vilella, 2014, Schizophrenia Research.

Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion Evidence from Inherited Hypotrichosis and Acquired Pemphigus Vulgaris

J. Ott, T. Gilliam, J. Sundberg, 2003, Cell.

Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata.

T. Gilliam, J. Ott, C. Haynes, 2007, American journal of human genetics.

Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency

D. Bickers, A. Martinez-Mir, L. Horev, 2003, Clinical and experimental dermatology.

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24

T. Gilliam, J. Liu, A. Grunn, 2003, Journal of medical genetics.

Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.

B. Glaser, D. Gordon, A. Christiano, 2003, The Journal of investigative dermatology.

Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population

F. Fusco, C. Pignata, M. Ursini, 2004, Annals of human genetics.

nine Chapter fifty-four Basic Principles of Genetics

A. Christiano, A. Martinez-Mir, 2012 .

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

N. Laing, C. Paradas, A. Miranda-Vizuete, 2018, Neuromuscular Disorders.

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

B. Franke, E. Bacchelli, A. Battaglia, 2017, Autism research : official journal of the International Society for Autism Research.

Selective expression of the neurexin substrate for presenilin in the adult forebrain causes deficits in associative memory and presynaptic plasticity

J. Delgado-García, A. Martinez-Mir, F. Scholl, 2021, Experimental Neurology.

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

S. Balcells, C. Ayuso, A. Martinez-Mir, 2002, Journal of medical genetics.

The first non-LTR retrotransposon characterised in the cephalochordate amphioxus, BfCR1, shows similarities to CR1-like elements

C. Cañestro, R. Albalat, J. Permanyer, 2003, Cellular and Molecular Life Sciences CMLS.

Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineage.

C. Cañestro, R. Albalat, A. Martinez-Mir, 2001, Gene.

Analysis of CCM1 expression uncovers novel minor-form exons and variable splicing patterns

G. Izquierdo, A. Martinez-Mir, M. Lucas, 2016, Genes & Genomics.

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.

B. Glaser, E. Sprecher, D. Gordon, 2005, Journal of the American Academy of Dermatology.

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer

J. McGrath, A. Martinez-Mir, T. Wong, 2005, Clinical and experimental dermatology.

Multiple cutaneous and uterine leiomyomas: refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43.

J. Ott, D. Gordon, A. Christiano, 2002, The Journal of investigative dermatology.

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

M. Bayés, M. Baiget, D. Grinberg, 1997, Genomics.

Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

S. Balcells, A. Martinez-Mir, R. Gonzàlez-Duarte, 2001, Human mutation.

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

M. Dean, R. Allikmets, S. Balcells, 1998, Nature Genetics.

Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.

A. Christiano, J. Connor, H. Merk, 2006, Physiological research.

Genetic linkage studies in alopecia areata.

J. Ott, D. Gordon, A. Christiano, 2003, The journal of investigative dermatology. Symposium proceedings.

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa

V. Falanga, A. Martinez-Mir, M. Massé, 2005, Clinical and experimental dermatology.

Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene

A. Martinez-Mir, A. Zlotogorski, G. Chuang, 2006, Clinical and experimental dermatology.

Search for susceptibility genes in alopecia areata.

A. Christiano, A. Martinez-Mir, A. Zlotogorski, 2005, The journal of investigative dermatology. Symposium proceedings.

Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release

A. Martinez-Mir, C. Saura, F. Scholl, 2017, The Journal of Neuroscience.

Rare variants analysis of neurexin-1&bgr; in autism reveals a novel start codon mutation affecting protein levels at synapses

B. Cormand, A. Hervás, A. Martinez-Mir, 2013, Psychiatric genetics.

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation

R. Martínez-Leal, E. Vilella, A. Martinez-Mir, 2012, Neurobiology of Disease.

Autosomal recessive retinitis pigmentosa in Spain : Evaluation of 4 genes and 2 loci involved in the disease

M. Bayés, M. Baiget, D. Grinberg, 2012 .

GENETIC MAPPING AND EVALUATION OF PDE6A IN 49 SPANISH FAMILIES WITH AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA

S. Balcells, A. Martinez-Mir, R. Gonzàlez-Duarte, 1999 .

Strategies for the Genetic Analysis of Autosomal Recessive Retinitis Pigmentosa in Spanish Families

M. Bayés, M. Baiget, D. Grinberg, 1997 .

Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma

A. Christiano, A. Martinez-Mir, A. Zlotogorski, 2014, The Journal of investigative dermatology.

A novel mutation in the 12(R)‐lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma

A. Martinez-Mir, A. Zlotogorski, G. Ashoor, 2006, The British journal of dermatology.

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

C. Broeckhoven, I. Hernández, A. Martinez-Mir, 2015, Neurobiology of Aging.

EB simplex superficialis resulting from a mutation in the type VII collagen gene.

J. Ott, T. Gilliam, Jianjun Liu, 2002, The Journal of investigative dermatology.

Dominant‐negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

A. Martinez-Mir, A. Macaya, F. Scholl, 2016, Movement disorders : official journal of the Movement Disorder Society.

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

M. Bayés, M. Baiget, D. Grinberg, 1998, Journal of medical genetics.

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2 q 31-q 33 Monica Bayes

M. Baiget, D. Grinberg, S. Balcells, 2022 .

A Neuroligin-1 mutation associated with Alzheimer’s disease produces memory and age-dependent impairments in hippocampal plasticity

A. Martinez-Mir, A. Rodríguez-Moreno, F. Scholl, 2023, iScience.

Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

A. Martinez-Mir, J. Ríos-Martín, M. Lucas, 2014, Journal of clinical neurology.

Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions.

A. Christiano, A. Martinez-Mir, H. Lam, 2005, European journal of dermatology : EJD.

A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa

A. Martinez-Mir, P. Cserhalmi-Friedman, H. Yu, 2004, Clinical and experimental dermatology.

Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.

A. Christiano, A. Martinez-Mir, P. Cserhalmi-Friedman, 2001, The Journal of investigative dermatology.

A newautosomal recessive retinitis pigmentosa locus mapsonchromosome 2q31-q33

M. Baiget, D. Grinberg, A. Martinez-Mir, 2011 .

Putative association of a mutant ROM1 allele with retinitis pigmentosa

M. Bayés, M. Baiget, D. Grinberg, 1997, Human Genetics.

A truncating mutation in Alzheimer's disease inactivates neuroligin-1 synaptic function

C. Broeckhoven, I. Hernández, A. Martinez-Mir, 2015, Neurobiology of Aging.