List of works - Jair Tenorio

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

scientific article published on 16 December 2014

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

scientific article published on 29 November 2012

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

scientific article published on 03 March 2022

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform

scientific article published on 02 July 2018

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

scientific article published on 15 September 2020

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

scientific article

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

scientific article published on 2 August 2016

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

scientific article published on 11 January 2016

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.

scientific article published on 19 January 2017

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

scientific article published on 30 September 2020

Epigenome-wide association study of COVID-19 severity with respiratory failure ⬇️

scientific article published on 15 April 2021

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

scientific article published on 23 January 2020

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

scientific article published on 04 November 2019

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

scientific article published on 06 November 2019

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

scientific article

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

scientific article published on 13 November 2017

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

article

Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.

scientific article published on 21 July 2016

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

scientific article

Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years

scientific article published on 26 February 2016

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

scientific article published on 04 July 2019

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

scientific article published on 28 October 2015

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

scientific article published on May 13, 2013

Simpson-Golabi-Behmel syndrome types I and II.

scientific article

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

scientific article published on 12 April 2022

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017

List of works by Jair Tenorio

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

A new overgrowth syndrome is due to mutations in RNF125.

A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases

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

Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

Epigenome-wide association study of COVID-19 severity with respiratory failure ⬇️

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

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

Simpson-Golabi-Behmel syndrome types I and II.

The Human Phenotype Ontology in 2024: phenotypes around the world

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.