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List of works by Carmen Ayuso

2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications

scientific article

67Ga scintigraphy for the evaluation of recurrences and residual masses in patients with lymphoma

scientific article published on 01 May 1997

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

scientific article

A Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis Bullosa

scientific article published on 18 August 2011

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

scientific article published on 29 April 2014

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

scientific article

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

scientific article

A phase II open label trial evaluating safety and efficacy of a telomerase peptide vaccination in patients with advanced hepatocellular carcinoma

scientific article

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

scientific article

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

ATA homozigosity in the IL-10gene promoter is a risk factor for schizophrenia in Spanish females: a case control study

scientific article published on June 9, 2011

Abdominal computed tomography predicts progression in patients with Rai stage 0 chronic lymphocytic leukemia.

scientific article published on 12 March 2007

An Update on the Genetics of Usher Syndrome

scientific article published on December 23, 2010

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

scientific article published on 27 January 2022

An excess of chromosome 1 breakpoints in male infertility

article

Analysis of the ABCA4 genomic locus in Stargardt disease

scientific article

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement

scientific article published on February 2017

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies

scientific article

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

scientific article published on 21 July 2015

Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience.

scientific article

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

scientific article published on 10 March 2005

Arterial embolisation or chemoembolisation versus symptomatic treatment in patients with unresectable hepatocellular carcinoma: a randomised controlled trial

scientific article (publication date: 18 May 2002)

Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population

scientific article published on January 3, 2012

Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children

scientific article

Autosomal dominant Retinitis Pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus

article

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

scientific article

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

scientific article published on 02 January 2013

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

scientific article

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

scientific article

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

scientific article published in June 2008

CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment

scientific article published in November 2013

Calcifications in the portal venous system: comparison of plain films, sonography, and CT

scientific article published on 01 August 1992

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

scientific article

Changes in portal vein flow after adult living-donor liver transplantation: Does it influence postoperative liver function?

scientific article published on 01 June 2003

Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy

scientific article published in October 2003

Chemoembolization of hepatocellular carcinoma with drug eluting beads: efficacy and doxorubicin pharmacokinetics

scientific article published on 29 November 2006

Cholangiocarcinoma in cirrhosis: absence of contrast washout in delayed phases by magnetic resonance imaging avoids misdiagnosis of hepatocellular carcinoma.

scientific article published on September 2009

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

scientific article published in September 2005

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients

scientific article published in February 2015

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

scientific article published on 28 October 2006

Colon cancer modulation by a diabetic environment: A single institutional experience

scientific article

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

scientific article published on 27 March 2018

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

scientific article

Comparison of Endoscopic Ultrasonography and Magnetic Resonance Cholangiopancreatography in the Diagnosis of Pancreatobiliary Diseases: A Prospective Study

scientific article published on 23 May 2007

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

scientific article published on 03 December 2009

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

scientific article

Contribution of JAK2 mutations to T-cell lymphoblastic lymphoma development.

scientific article

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

scientific article

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

scientific article published on 31 March 2016

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis

scientific article

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

scientific article

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation

scientific article

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

article

Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.

scientific article

Diagnosis and treatment of hepatocellular carcinoma

scientific article published on 14 February 2009

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

scientific article

Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.

scientific article published on 26 February 2016

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

scientific article

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

scientific article

Dual-energy CT: oncologic applications

scientific article

Early dermatologic adverse events predict better outcome in HCC patients treated with sorafenib

scientific article published on 2 April 2014

Effect of polymorphisms on the pharmacokinetics, pharmacodynamics, and safety of risperidone in healthy volunteers

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

scientific article

Evaluating a newly developed pharmacogenetic array: screening in a Spanish population.

scientific article published on November 2010

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

scientific article published on March 2001

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

article

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

scientific article published on 31 March 2014

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

scientific article

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

scientific article

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

scientific article published on 16 June 2015

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

scientific article published on 4 March 2008

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

scientific article published on 31 October 2008

Frequency of constitutional chromosome alterations in patients with hematologic neoplasias

scientific article published on 01 February 1987

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

scientific article

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

scientific article

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

scientific article published in February 2006

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

scientific article published on 29 December 2015

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

scientific article published on 13 April 2016

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

scientific article published on 4 January 2018

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

scientific article

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies

scientific article

Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.

scientific article

Growing teratoma syndrome in metastatic germinal non-seminomatous testicular tumors

scientific article published on 01 May 1990

Guidelines for genetic study of aniridia.

scientific article published on 25 September 2012

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

scientific article

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

scientific article (publication date: March 2009)

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

scientific article published in January 1995

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

scientific article

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

scientific article published in March 2003

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability

scientific journal article

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

scientific article published in November 2006

Identification of PITX3 mutations in individuals with various ocular developmental defects

scientific article published on 6 February 2018

Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.

scientific article

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

scientific article published on 01 September 1994

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

scientific article published on 10 June 2010

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

scientific article (publication date: August 2001)

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4

scientific article published on 03 September 2019

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

scientific article published on 13 October 2016

Identification of three novel mutations in the MYO7A gene.

scientific article published in August 1999

Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva

article

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

scientific article

Imaging of HCC.

scientific article published on April 2012

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

scientific article

Increased risk of tumor seeding after percutaneous radiofrequency ablation for single hepatocellular carcinoma.

scientific article

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

scientific article

Initial response to percutaneous ablation predicts survival in patients with hepatocellular carcinoma.

scientific article

Interleukin-8 expression in bronchoalveolar lavage cells in the evaluation of alveolitis in idiopathic pulmonary fibrosis.

scientific article published in February 1998

Intestinal tuberculosis in AIDS

article

Intrahepatic peripheral cholangiocarcinoma in cirrhosis patients may display a vascular pattern similar to hepatocellular carcinoma on contrast-enhanced ultrasound

scientific article published on 01 June 2010

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

scientific article

Is microbubble-enhanced ultrasonography sufficient for assessment of response to percutaneous treatment in patients with early hepatocellular carcinoma?

scientific article published on 18 May 2006

Is there a role for (99m)Tc-anti-CEA monoclonal antibody imaging in the diagnosis of recurrent colorectal carcinoma?

scientific article published on 01 June 2003

Lack of arterial hypervascularity at contrast-enhanced ultrasound should not define the priority for diagnostic work-up of nodules <2 cm.

scientific article published on 27 August 2014

Late Onset Retinitis Pigmentosa

scientific article published on 01 December 2011

Linkage analysis in Usher syndrome type I (USH1) families from Spain

scientific article published on May 1, 1998

Lipomatosis of the pancreas: an unusual cause of massive steatorrhea

scientific article published on 01 January 1988

Liver tumor characterization: comparison between liver-specific gadoxetic acid disodium-enhanced MRI and biphasic CT--a multicenter trial.

scientific article published in May 2006

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

article

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

scientific article published on 01 August 2007

MRI of Crohn's disease: from imaging to pathology.

scientific article published on June 2012

Management and return of incidental genomic findings in clinical trials

scientific article

Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice

scientific article published on 14 January 2014

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

scientific article

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti

scientific article published in September 2009

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

scientific article

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

scientific article published in July 2009

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

scientific article

Movement disorders in hereditary ataxias

scientific article published on 01 October 2002

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

scientific article (publication date: September 1999)

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

scientific article

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray

scientific article published in December 2007

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

scientific article

Mutational Screening of theRP2andRPGRGenes in Spanish Families with X-Linked Retinitis Pigmentosa

article

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

scientific article published on 17 October 2011

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

scientific article

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

scientific article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

scientific article published on 6 March 2017

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

scientific article (publication date: May 2003)

Mutations including the promoter region of myocilin/TIGR gene

article

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

scientific article

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

scientific article published on 20 February 2018

New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

scientific article published in November 2005

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

scientific article

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.

scientific article

New type of mutations in three spanish families with choroideremia.

scientific article

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

scientific article

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

scientific article

Non-invasive diagnosis of hepatocellular carcinoma ⩽2cm in cirrhosis. Diagnostic accuracy assessing fat, capsule and signal intensity at dynamic MRI

scientific article published on 04 February 2012

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

scientific article published on 14 August 2013

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

scientific article published in November 2008

Novel human pathological mutations

scientific article published on 01 July 2006

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

article

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa

scientific article published on 2 November 2011

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

scientific article published on 01 July 1996

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

scientific article published in December 2005

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

scientific article

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

scientific article

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families

scientific article published on 04 June 2013

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations inBBS1,BBS10andBBS12genes

article

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

scientific article published in June 2010

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

scientific article published on 25 January 2016

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

scientific article published on 17 August 2020

Pharmacodynamic genetic variants related to antipsychotic adverse reactions in healthy volunteers

scientific article published in July 2013

Pharmacogenetic studies assessment in clinical research: Four issues, four opinions

scientific article published on 17 June 2010

Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects.

scientific article published on 4 September 2017

Phase I trial of gefitinib with concurrent radiotherapy and fixed 2-h gemcitabine infusion, in locally advanced pancreatic cancer

scientific article published on 11 September 2006

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

scientific article

Postprogression survival of patients with advanced hepatocellular carcinoma: rationale for second-line trial design

scientific article

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

scientific article published on 01 October 2002

Prenatal diagnosis of 46, XX male fetus

scientific article

Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study

scientific article published in December 2008

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

scientific article published on August 2009

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy

scientific article published on 14 January 2015

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families

scientific article

Prospective evaluation of gadoxetic acid magnetic resonance for the diagnosis of hepatocellular carcinoma in newly detected nodules ≤2 cm in cirrhosis

scientific article published on 28 May 2019

Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.

scientific article published in June 2004

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

article

Reply to Townsend et al.

scientific article published on 15 May 2013

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

scientific article

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

scientific article

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

scientific journal article

Role of 3.0-T MR colonography in the evaluation of inflammatory bowel disease.

scientific article published on May 2009

SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations

scientific article published on 8 June 2022

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome

scientific article published in September 2007

Second-generation dual-energy computed tomography of the abdomen: radiation dose comparison with 64- and 128-row single-energy acquisition

scientific article published in July 2013

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family

scientific article published on 01 December 2000

Somatic stability in chorionic villi samples and other Huntington fetal tissues

scientific article

Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester

scientific article published on 01 March 2000

Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia

scientific article published on 01 January 1989

Sudden death in hypertrophic cardiomyopathy associated with 46,XY pure gonadal dysgenesis

article

Survival of patients with hepatocellular carcinoma treated by transarterial chemoembolisation (TACE) using Drug Eluting Beads. Implications for clinical practice and trial design.

scientific article

Systemic therapy for hepatocellular carcinoma: the issue of treatment stage migration and registration of progression using the BCLC-refined RECIST.

scientific article

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

scientific article

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

scientific article published in April 2015

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

scientific article

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

scientific article published on 22 February 2010

The genetic basis of the Pierre Robin Sequence

scientific article

The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

scientific article published on 19 November 2009

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

scientific article

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

scientific article

Transarterial embolization for hepatocellular carcinoma. Antibiotic prophylaxis and clinical meaning of postembolization fever.

scientific article published on April 1995

Treatment of hepatocellular carcinoma with tamoxifen: A double-blind placebo-controlled trial in 120 patients

scientific article published on 01 September 1995

Treatment of small hepatocellular carcinoma in cirrhotic patients: a cohort study comparing surgical resection and percutaneous ethanol injection

scientific article published on 01 November 1993

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH.

scientific article

Two non-contiguous duplications in the DMD gene in a Spanish family.

scientific article

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

scientific article published in September 2011

USH2A Gene Editing Using the CRISPR System

scientific article published on 12 August 2017

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

scientific article published on 18 June 2018

Virtual unenhanced images of the abdomen with second-generation dual-source dual-energy computed tomography: image quality and liver lesion detection.

scientific article published in January 2013

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

scientific article

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

scientific article

[Hepatocellular carcinoma: diagnosis, staging, and treatment strategy]

scientific article published on 27 July 2010

[Holt-Oram syndrome: study of 7 cases]

scientific article published on 17 June 2010

[Imaging diagnosis of hepatocellular carcinoma. Addendum to hepatocellular carcinoma: diagnosis, staging and treatment strategies]

scientific article published on 29 March 2011

[Imaging techniques in hepatocellular carcinoma: diagnosis, extension and evaluation of therapeutic response].

scientific article published on 5 May 2010

[Lower esophageal sphincter pressure in patients with achalasia. Is high blood pressure frequent in these patients?]

scientific article published on 01 October 2003

[Magnetic resonance enterography in Crohn's disease: a new diagnostic tool?]

scientific article published on 01 April 2008

[Recommendations of the Spanish Biliopancreatic Club for the Treatment of Acute Pancreatitis. Consensus development conference]

scientific article published on 01 June 2008

[Usefulness of ultrasonography and computerized tomography in predicting resectability of pancreatic carcinoma]

scientific article published on 01 November 1998