D. Tellería

发表

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

P. Lapunzina, J. Nevado, R. Peces, 2020, Molecular genetics & genomic medicine.

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

F. Moreno, D. Tellería, I. del Castillo, 2002, The New England journal of medicine.

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene

S. Somlo, X. Lens, F. Moreno, 1997, Human Genetics.

A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

A. Kornblihtt, D. Tellería, D. Iglesias, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

D. Tellería, P. Harris, J. L. San Millán, 1999, Kidney international.

Insulin gene variable number of tandem repeats regulatory polymorphism is not associated with hyperandrogenism in Spanish women.

D. Tellería, J. L. San Millán, H. Escobar-Morreale, 2002, Fertility and sterility.

Discovery of the Optical Transient of GRB 990308

S. Djorgovski, D. Frail, S. Barthelmy, 1999, astro-ph/9907235.

Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q

E. Velasco, F. Moreno, D. Tellería, 1995, Human Genetics.

Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients

J. Benítez, A. Cebrián, D. Tellería, 2003, Journal of medical genetics.

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss

F. Moreno, D. Tellería, I. del Castillo, 2002, Journal of medical genetics.

A highly sensitive genetic protocol to detect NF1 mutations.

M. C. Valero, C. Hernández-Chico, D. Tellería, 2011, The Journal of molecular diagnostics : JMD.

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

D. Tellería, Richard J. H. Smith, P. Huygen, 2020, Scientific Reports.

Genetic and epigenetic profile of sporadic pheochromocytomas

M. Fraga, J. Benítez, M. Esteller, 2004, Journal of Medical Genetics.

G12S and H50R variations are polymorphisms in the SDHD gene

J. Benítez, A. Cebrián, D. Tellería, 2003, Genes, chromosomes & cancer.

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation

J. Benítez, A. Cebrián, D. Tellería, 2002, Journal of medical genetics.

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma

J. Benítez, A. Cebrián, D. Tellería, 2002, European Journal of Human Genetics.

Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations

M. Urioste, J. Benítez, A. Cebrián, 2004, Human mutation.

Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women.

D. Tellería, J. L. San Millán, H. Escobar-Morreale, 2001, The Journal of clinical endocrinology and metabolism.

TO JMG Q 829 X , a novel mutation in the gene encoding otoferlin ( OTOF ) , is frequently found in Spanish patients with prelingual non-syndromic hearing loss

F. Moreno, D. Tellería, M. Villamar, 2002 .