Jair A. Tenorio

La Paz, MD 28046, Spain

Last Updated: 09/26/2026

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Found 52 publications

Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.

Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances.

Journal: Clinical epigenetics
Published: May 27, 2025

Pulmonary arterial hypertension associated with exposure to toxic rapeseed oil.

Pulmonary arterial hypertension associated with exposure to toxic rapeseed oil.

Journal: ERJ open research
Published: March 19, 2025

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.

Journal: medRxiv : the preprint server for health sciences
Published: February 24, 2025

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.

Journal: American journal of human genetics
Published: February 03, 2025

Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Journal: Life (Basel, Switzerland)
Published: July 22, 2024

A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.

A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.

Journal: Thyroid : official journal of the American Thyroid Association
Published: May 17, 2024

A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial.

A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: January 04, 2024

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Journal: Journal of medical genetics
Published: July 28, 2023

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Journal: Genes
Published: February 19, 2023

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations.

Journal: Frontiers in endocrinology
Published: June 09, 2022

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.

Journal: American journal of medical genetics. Part A
Published: March 27, 2022

Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.

Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.

Journal: Orphanet journal of rare diseases
Published: July 30, 2021
Showing 1-12 of 52

Last Updated: 09/26/2026