M. Ruíz-Ferrer

发表

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

Josephine T. Daub, J. P. Florido, Javier Santoyo-Lopez, 2016, Molecular biology and evolution.

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas

Cristina Y. González, Ignacio Medina, Marta Bleda, 2015, BMC Medical Genomics.

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

M. Urioste, P. Chanson, M. Blok, 2012, Clinical Cancer Research.

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2006, Genetics in Medicine.

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

P. Sham, S. Cherny, J. Dopazo, 2015, Scientific Reports.

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung’s disease

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2011, Journal of Molecular Medicine.

Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2008, Journal of pediatric surgery.

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2011, PloS one.

Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2006, International journal of molecular medicine.

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

M. Ruíz-Ferrer, S. Borrego, L. Lecerf, 2014, Human mutation.

Hirschsprung's disease as a model of complex genetic etiology.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2013, Histology and histopathology.

A map of human microRNA variation uncovers unexpectedly high levels of variability

Joaquín Dopazo, Ignacio Medina, Eva Alloza, 2012, Genome Medicine.

Coenzyme Q is irreplaceable by demethoxy‐coenzyme Q in plasma membrane of Caenorhabditis elegans

M. Ruíz-Ferrer, P. Navas, C. Santos-Ocaña, 2006, FEBS letters.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

P. Sham, P. Tam, A. Chakravarti, 2017, Genome Biology.

Title Whole exome sequencing coupled with unbiased functionalanalysis reveals new Hirschsprung disease genes

P. Sham, P. Tam, A. Chakravarti, 2017 .

A map of human microRNA variation uncovers unexpectedly high levels of variability

J. Dopazo, I. Medina, J. Jimenez-Almazan, 2012, Genome Medicine.

A Novel Point Variant in NTRK3, R645C, Suggests a Role of this Gene in the Pathogenesis of Hirschsprung Disease

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2009, Annals of human genetics.

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2008, Journal of pediatric surgery.

Human Cancer Biology MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

M. Urioste, P. Chanson, M. Blok, 2012 .

Silencing of ubiquinone biosynthesis genes extends life span in Caenorhabditis elegans

M. Ruíz-Ferrer, P. Navas, J. Rodríguez-Aguilera, 2003, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Title Exome sequencing reveals a high genetic heterogeneity onfamilial Hirschsprung disease

P. Sham, S. Cherny, J. Dopazo, 2015 .

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas

J. Dopazo, I. Medina, M. Bleda, 2015, BMC Medical Genomics.

Caenorhabditis elegans ubiquinone biosynthesis genes

M. Ruíz-Ferrer, P. Navas, J. Rodríguez-Aguilera, 2003, BioFactors.

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2017, Scientific Reports.

G534E Variant in HABP2 and Nonmedullary Thyroid Cancer.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2016, Thyroid : official journal of the American Thyroid Association.

ESR2 Gene and Medullary Thyroid Carcinoma.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2017, Thyroid.

The −670A > G polymorphism in the promoter region of the FAS gene is associated with necrosis in periportal areas in patients with chronic hepatitis C

M. Ruíz-Ferrer, G. Antiñolo, J. Aguilar-Reina, 2005, Journal of viral hepatitis.

Analysis of CCR5‐Δ32 and CCR2‐V64I polymorphisms in a cohort of Spanish HCV patients using Real‐time Polymerase Chain Reaction and Fluorescence Resonance Energy Transfer technologies

M. Ruíz-Ferrer, G. Antiñolo, J. Aguilar-Reina, 2004, Journal of viral hepatitis.

Hirschsprung's disease as a model of complex genetic etiology.

M. Ruíz-Ferrer, S. Borrego, G. Antiñolo, 2013, Histology and Histopathology.