Jesus Solera

Madrid, MD 28046, Spain

Last Updated: 09/26/2026

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Found 14 publications

Tetrahedral DNA nanostructures, graphene and carbon nanodots-based electrochemiluminescent biosensor for BRCA1 gene mutation detection.

Tetrahedral DNA nanostructures, graphene and carbon nanodots-based electrochemiluminescent biosensor for BRCA1 gene mutation detection.

Journal: Talanta

Published: August 20, 2024

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.

Journal: Gene

Published: April 12, 2021

Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.

Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.

Journal: Neuromuscular disorders : NMD

Published: August 14, 2018

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit.

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit.

Journal: Journal of genetic counseling

Published: March 25, 2017

Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital.

Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital.

Journal: Oncology

Published: July 24, 2016

PanGen-Fam: Spanish registry of hereditary pancreatic cancer.

PanGen-Fam: Spanish registry of hereditary pancreatic cancer.

Journal: European journal of cancer (Oxford, England : 1990)

Published: February 02, 2015

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.

Journal: Journal of neuromuscular diseases

Published: January 01, 2015

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Journal: Neuromuscular disorders : NMD

Published: November 03, 2014

Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.

Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.

Journal: Clinical and experimental dermatology

Published: November 04, 2013

Noninvasive diagnosis of hypolactasia with 4-Galactosylxylose (Gaxilose): a multicentre, open-label, phase IIB-III nonrandomized trial.

Noninvasive diagnosis of hypolactasia with 4-Galactosylxylose (Gaxilose): a multicentre, open-label, phase IIB-III nonrandomized trial.

Journal: Journal of clinical gastroenterology

Published: June 01, 2013

Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.

Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.

Journal: Clinical genetics

Published: May 14, 2013

Phase I and phase IB clinical trials for the noninvasive evaluation of intestinal lactase with 4-galactosylxylose (gaxilose).

Phase I and phase IB clinical trials for the noninvasive evaluation of intestinal lactase with 4-galactosylxylose (gaxilose).

Journal: Journal of clinical gastroenterology

Published: January 19, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026