Jair Tenorio

Jair Tenorio

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Jair Tenorio

Jair Tenorio

Publications by authors named "Jair Tenorio"

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

Clin Genet 2020 Mar 23;97(3):467-476. Epub 2020 Jan 23.

Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario LaPaz-UAM, Paseo de La Castellana, Madrid, Spain.

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http://dx.doi.org/10.1111/cge.13689DOI Listing
March 2020

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

Int J Antimicrob Agents 2019 Oct 4;54(4):463-470. Epub 2019 Jul 4.

Clinical Pharmacology Department, IdiPAZ, La Paz University Hospital School of Medicine, Autonomous University of Madrid, Paseo de la Castellana 261, 28046 Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09248579193017
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http://dx.doi.org/10.1016/j.ijantimicag.2019.06.026DOI Listing
October 2019

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

Clin Genet 2019 06 29;95(6):726-731. Epub 2019 Apr 29.

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.

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http://doi.wiley.com/10.1111/cge.13504
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http://dx.doi.org/10.1111/cge.13504DOI Listing
June 2019

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

Rev Esp Cardiol (Engl Ed) 2018 Jul 14;71(7):545-552. Epub 2017 Nov 14.

Instituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Unidad de Genética Clínica, Hospital Universitario HM Montepríncipe, Madrid, Spain.

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http://dx.doi.org/10.1016/j.rec.2017.10.013DOI Listing
July 2018

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

Rev Esp Cardiol (Engl Ed) 2016 Nov 21;69(11):1011-1019. Epub 2016 Jul 21.

Red de Investigación Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain; Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.rec.2016.03.029DOI Listing
November 2016

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

An Pediatr (Barc) 2016 Aug 28;85(2):104-105. Epub 2016 Feb 28.

Genética Clínica, INGEMM, Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, España; Unidad 753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2016.01.011DOI Listing
August 2016

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

Eur J Intern Med 2016 Apr 11;29:40-5. Epub 2016 Jan 11.

Dept. of Internal Medicine, Hospital Universitario Marqués Valdecilla, IDIVAL, University of Cantabria, RETICEF, Santander, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2015.12.019DOI Listing
April 2016

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

Am J Med Genet A 2013 Jan 29;161A(1):192-7. Epub 2012 Nov 29.

Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Chiang Mai, Thailand.

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http://doi.wiley.com/10.1002/ajmg.a.35663
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http://dx.doi.org/10.1002/ajmg.a.35663DOI Listing
January 2013