J. M. Millán

发表

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Tsviya Olender, Doron Lancet, Shmuel Pietrokovski, 2002, European Journal of Human Genetics.

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2014, Investigative ophthalmology & visual science.

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

E. Aller, M. Cortón, I. Mahíllo-Fernández, 2018, PloS one.

Molecular genetic analysis of HLA-DR and -DQ alleles in Spanish patients with melanoma.

E. Nagore, C. Guillen, A. Insa, 2002, Acta dermato-venereologica.

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

E. Aller, E. Tizzano, E. Bertini, 2022, International journal of molecular sciences.

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

C. Hernández-Chico, M. Baiget, E. Tizzano, 2011, Neuromuscular Disorders.

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

S. Borrego, C. Hernández-Chico, J. Rosell, 2010, Journal of Medical Genetics.

Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

E. Aller, T. Jaijo, R. Sivera, 2022, Neurology: Genetics.

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene

M. Barceló, M. Baiget, E. Tizzano, 2014, Clinical genetics.

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Á. Carracedo, L. Pérez-Jurado, P. Lapunzina, 2022, Clinical genetics.

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

Multiple hormonal signalling pathways function cell-nonautonomously to control protein homeostasis in Caenorhabditis elegans

J. Cañizares, R. Vázquez-Manrique, J. Blanca, 2019 .

Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

E. Aller, M. del Río, C. Ayuso, 2013, The British journal of dermatology.

Updating the Genetic Landscape of Inherited Retinal Dystrophies

E. Aller, T. Jaijo, J. M. Millán, 2021, Frontiers in Cell and Developmental Biology.

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I

E. Aller, W. Kimberling, A. Oshima, 2008, Human mutation.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

E. Aller, I. Ebermann, H. Scholl, 2007, Human Genetics.

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

J. M. García-Sagredo, G. Ariceta, O. Moldovan, 2011, BMC Medical Genetics.

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

I. Gut, B. Wirth, F. Muntoni, 2020, The Journal of molecular diagnostics : JMD.

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

E. Aller, S. Borrego, C. Hernández-Chico, 2018, Neuromuscular Disorders.

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes

E. Aller, T. Jaijo, G. García-García, 2022, Scientific reports.

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population

D. Ginestar, C. Espinós, F. Palau, 2005, Human mutation.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

G. Fishman, J. Duncan, D. Chitayat, 2010, Journal of Medical Genetics.

A crowdsourcing database for the copy-number variation of the Spanish population

Jose L. Fernandez-Rueda, Luis Antonio Castaño, J. Dopazo, 2023, Human Genomics.

miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks

J. O'connor, M. Pinazo-Durán, L. Pedrola, 2021, Journal of clinical medicine.

Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain

R. Botella-Estrada, E. Nagore, J. M. Millán, 2005, Melanoma research.

Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2

E. van Wijk, G. García-García, R. Schellens, 2021, Human Genetics.

Epidemiology of retinitis pigmentosa in the valencian community (Spain)

F. Prieto, J. M. Millán, M. Beneyto, 1995, Genetic epidemiology.

Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans

Denise S Walker, W. Schafer, J. Cañizares, 2023, EMBO reports.

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa

E. Zrenner, A. Gal, F. Prieto, 1994, Human mutation.

Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

S. Borrego, G. Antiñolo, M. Baiget, 2000, Ophthalmic genetics.

Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials

T. Jaijo, E. Carreño, C. Ayuso, 2021, Acta ophthalmologica.

The Genetics of Aminoglycoside-Related Deafness

M. Vento, J. M. Millán, A. Pérez-Aytés, 2014 .

BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

S. Jacobson, G. Fishman, J. Duncan, 2011, Human mutation.

Identification of three novel mutations in the MYO7A gene

C. Ayuso, C. Espinós, J. M. Millán, 1999, Human mutation.

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

E. Aller, G. Antiñolo, F. Moreno, 2006, Human mutation.

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

J. Millán, C. Espinós, J. M. Millán, 1998, Human Genetics.

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

J. García-Verdugo, E. Aller, T. Jaijo, 2023, Movement disorders clinical practice.

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort

E. Aller, J. Millán, M. Claustres, 2013, Molecular vision.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

S. Borrego, M. Trujillo-Tiebas, J. Molano, 2017, Neurologia.

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

E. Aller, S. Borrego, E. Tizzano, 2018, Neuromuscular Disorders.

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

S. Borrego, M. Trujillo-Tiebas, J. Molano, 2017, Neurologia.