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Jair Tenorio
Jair Tenorio
Genetista molecular
在 salud.madrid.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nat Rev Endocrinol 14 (4), 229-249, 2018
487*2018
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ...
Human mutation 33 (2), 343-350, 2012
2422012
Epigenome-wide association study of COVID-19 severity with respiratory failure
MC de Moura, V Davalos, L Planas-Serra, D Alvarez-Errico, C Arribas, ...
EBioMedicine 66, 2021
1062021
Simpson-Golabi-Behmel syndrome types I and II
J Tenorio, P Arias, V Martínez-Glez, F Santos, S García-Miñaur, J Nevado, ...
Orphanet Journal of Rare Diseases 9, 1-8, 2014
942014
A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies
J Tenorio, P Navas, E Barrios, L Fernández, J Nevado, CA Quezada, ...
Clinical Genetics 88 (6), 579-583, 2015
762015
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults
L Riancho-Zarrabeitia, M García-Unzueta, JA Tenorio, JA Gómez-Gerique, ...
European journal of internal medicine 29, 40-45, 2016
732016
Further delineation of Malan syndrome
M Priolo, D Schanze, K Tatton‐Brown, PA Mulder, J Tenorio, K Kooblall, ...
Human mutation 39 (9), 1226-1237, 2018
672018
Molecular analysis of BMPR2, TBX4, and KCNK3 and genotype-phenotype correlations in Spanish patients and families with idiopathic and hereditary pulmonary arterial hypertension
P Navas, J Tenorio, CA Quezada, E Barrios, G Gordo, P Arias, ...
Revista Española de Cardiología (English Edition) 69 (11), 1011-1019, 2016
612016
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
M Baldassarri, N Picchiotti, F Fava, C Fallerini, E Benetti, S Daga, ...
EBioMedicine 65, 2021
602021
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
T Eggermann, F Brioude, S Russo, MP Lombardi, J Bliek, ER Maher, ...
European journal of human genetics 24 (6), 784-793, 2016
602016
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ...
Clinical genetics 93 (4), 762-775, 2018
552018
A six-attribute classification of geneticmosaicism
V Martínez-Glez, J Tenorio, J Nevado, G Gordo, L Rodríguez-Laguna, ...
Genetics in Medicine 22 (11), 1743-1757, 2020
462020
Clinical implementation of pharmacogenetic testing in a hospital of the Spanish National Health System: strategy and experience over 3 years
AM Borobia, I Dapia, HY Tong, P Arias, M Muñoz, J Tenorio, R Hernández, ...
Clinical and translational science 11 (2), 189-199, 2018
462018
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
J Tenorio, V Romanelli, A Martin‐Trujillo, GM Fernández, M Segovia, ...
American journal of medical genetics Part A 170 (10), 2740-2749, 2016
462016
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia
J Tenorio, I Álvarez, L Riancho‐Zarrabeitia, GÁ Martos‐Moreno, ...
American Journal of Medical Genetics Part A 173 (3), 601-610, 2017
452017
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances
A Monteagudo-Sánchez, JR Hernandez Mora, C Simon, A Burton, ...
Nucleic acids research 48 (20), 11394-11407, 2020
422020
Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome
A Palencia-Campos, PC Aoto, EMF Machal, A Rivera-Barahona, ...
The American Journal of Human Genetics 107 (5), 977-988, 2020
412020
A New Overgrowth Syndrome is due to Mutations in RNF125
J Tenorio, A Mansilla, M Valencia, V Martínez‐Glez, V Romanelli, P Arias, ...
Human mutation 35 (12), 1436-1441, 2014
372014
Abnormal bone turnover in individuals with low serum alkaline phosphatase
L López-Delgado, L Riancho-Zarrabeitia, MT García-Unzueta, JA Tenorio, ...
Osteoporosis International 29, 2147-2150, 2018
362018
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13. 3 microdeletion/microduplication syndrome
J Nevado, JA Rosenfeld, R Mena, M Palomares-Bralo, E Vallespín, ...
European Journal of Human Genetics 23 (12), 1615-1626, 2015
362015
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