Works matching AU Oriola, Josep

Results: 35

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Published in:

Genes, 2023, v. 14, n. 4, p. 813, doi. 10.3390/genes14040813

By:

Alvarez-Mora, María Isabel;
Rodríguez-Revenga, Laia;
Jodar, Meritxell;
Potrony, Miriam;
Sanchez, Aurora;
Badenas, Celia;
Oriola, Josep;
Villanueva-Cañas, José Luis;
Muñoz, Esteban;
Valldeoriola, Francesc;
Cámara, Ana;
Compta, Yaroslau;
Carreño, Mar;
Martí, María Jose;
Sánchez-Valle, Raquel;
Madrigal, Irene

Publication type:

Article

NOP53 as A Candidate Modifier Locus for Familial Non-Medullary Thyroid Cancer.

Published in:

Genes, 2019, v. 10, n. 11, p. 899, doi. 10.3390/genes10110899

By:

Orois, Aida;
Gara, Sudheer K.;
Mora, Mireia;
Halperin, Irene;
Martínez, Sandra;
Alfayate, Rocio;
Kebebew, Electron;
Oriola, Josep

Publication type:

Article

Haptoglobin genotype and risk of diabetic nephropathy in patients with type 1 diabetes mellitus: a study on a Spanish population.

Published in:

Nefrologia, 2014, v. 34, n. 2, p. 212, doi. 10.3265/Nefrologia.pre2014.Feb.12034

By:

Amor, Antonio J.;
Canivell, Silvia;
Oriola, Josep;
Ricart, Maria J.;
de Hollanda, Ana M.;
Bosch-Comas, Anna;
Esmatjes, Enric

Publication type:

Article

False-Positive Results of Basal and Pentagastrin-Stimulated Calcitonin in Non-Gene Carriers of Multiple Endocrine Neoplasia Type 2A.

Published in:

Thyroid, 1997, v. 7, n. 1, p. 51, doi. 10.1089/thy.1997.7.51

By:

HERNÁNDEZ, CRISTINA;
SIMÓ, RAFAEL;
ORIOLA, JOSEP;
MESA, JORDI

Publication type:

Article

Hormonal determinants and effect of ER22/23EK glucocorticoid receptor gene polymorphism on health status deterioration in the participants of the Mataró Ageing Study.

Published in:

Age (0161-9152), 2012, v. 34, n. 3, p. 553, doi. 10.1007/s11357-011-9255-z

By:

Mora, Mireia;
Sánchez, Lidia;
Serra-Prat, Mateu;
Palomera, Elisabet;
Blanco, Jesús;
Aranda, Gloria;
Falcón, Immaculada;
Cadenas, Immaculada;
Boquet, Xavier;
Oriola, Josep;
Puig-Domingo, Manuel

Publication type:

Article

La dirección musical de agrupaciones juveniles: un referente de liderazgo y competencias socioemocionales.

Published in:

Revista Internacional de Educacion Musical, 2019, v. 7, n. 1, p. 69, doi. 10.1177/2307484119878639

By:

Carnicer, Salvador Oriola Requena y Josep Gustems

Publication type:

Article

ASSOCIATION OF THE G PROTEIN β3 SUBUNIT T ALLELE WITH INSULIN RESISTANCE IN ESSENTIAL HYPERTENSION.

Published in:

Clinical & Experimental Hypertension, 2002, v. 24, n. 5, p. 345, doi. 10.1081/CEH-120004796

By:

Poch, Esteban;
Giner, Vicente;
González-Núñez, Daniel;
Coll, Elisabeth;
Oriola, Josep;
de la Sierra, Alejandro

Publication type:

Article

A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 634, doi. 10.1111/cge.14035

By:

Arriba, María;
Oriola, Josep;
Ezquieta, Begoña

Publication type:

Article

The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3872, doi. 10.1002/ajmg.a.62444

By:

Villabona, Carles;
Oriola, Josep;
Serrano, Teresa;
Guerrero‐Pérez, Fernando;
Valdés, Nuria;
Chiara, Mariló;
Robledo, Mercedes

Publication type:

Article

Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues.

Published in:

European Journal of Endocrinology, 2013, v. 167, n. 1, p. 9, doi. 10.1530/EJE-12-0457

By:

Oriola, Josep;
Lucas, Tomás;
Halperin, Irene;
Mora, Mireia;
Perales, M<SUP>a</SUP> José;
Alvarez-Escolá, Cristina;
Paz, de Miguel-Novoa;
Soto, Gonzalo Díaz;
Salinas, Isabel;
Julián, María Teresa;
Olaizola, Izaskun;
Bernabeu, Ignacio;
Marazuela, Mónica;
Puig-Domingo, Manuel

Publication type:

Article

Polymorphism of the Tumor Necrosis Factor-Alpha Receptor 2 Gene Is Associated With Obesity, Leptin Levels, and Insulin Resistance in Young Subjects and Diet-Treated Type 2 Diabetic Patients.

Published in:

Diabetes Care, 2000, v. 23, n. 6, p. 831, doi. 10.2337/diacare.23.6.831

By:

Fernandez-Real, Jose-Manuel;
Vendrell, Joan;
Ricart, Wifredo;
Broch, Montserrat;
Gutierrez, Cristina;
Casamitjana, Roser;
Oriola, Josep;
Richart, Cristobal

Publication type:

Article

Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.

Published in:

Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1270962

By:

Carrasco, Raquel;
Ingelmo-Torres, Mercedes;
Oriola, Josep;
Roldán, Fiorella L.;
Rodríguez-Carunchio, Leonardo;
Herranz, Sandra;
Mellado, Begoña;
Alcaraz, Antonio;
Izquierdo, Laura;
Mengual, Lourdes

Publication type:

Article

Methodological advances in sperm proteomics.

Published in:

Human Fertility, 2010, v. 13, n. 4, p. 263, doi. 10.3109/14647273.2010.516877

By:

Oliva, Rafael;
De Mateo, Sara;
Castillo, Judit;
Azpiazu, Rubén;
Oriola, Josep;
Ballescà, Josep Lluís

Publication type:

Article

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Published in:

JCEM Case Reports, 2024, v. 2, n. 1, p. 1, doi. 10.1210/jcemcr/luad153

By:

Mauri, Sílvia;
Nieto-Moragas, Javier;
Obón, María;
Oriola, Josep

Publication type:

Article

Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

Published in:

Cancers, 2024, v. 16, n. 22, p. 3779, doi. 10.3390/cancers16223779

By:

Llach, Joan;
Luzko, Irina;
Earl, Julie;
Barreto, Emma;
Rodríguez-Garrote, Mercedes;
Lleixà, Marc;
Herrera-Pariente, Cristina;
Fernández, Guerau;
Munoz, Jenifer;
Bonjoch, Laia;
Saurí, Tamara;
Ausania, Fabio;
Ocaña, Teresa;
Moreno, Lorena;
Grau, Elia;
Oriola, Josep;
Alvarez-Mora, Maria Isabel;
Herreros-Villanueva, Marta;
Castellví-Bel, Sergi;
Balaguer, Francesc

Publication type:

Article

Increased mortality in septic shock with the 4G/4G genotype of plasminogen activator inhibitor 1 in patients of white descent.

Published in:

2007

By:

García-Segarra, Gloria;
Espinosa, Gerard;
Tassies, Dolors;
Oriola, Josep;
Aibar, Jesús;
Bové, Albert;
Castro, Pedro;
Reverter, Joan-Carles;
Nicolás, Josep-Maria;
García-Segarra, Gloria;
Aibar, Jesús;
Bové, Albert;
Nicolás, Josep-Maria

Publication type:

journal article

Patient With iDEND Syndrome-Related Mutation.

Published in:

2014

By:

Prado-Carro, Ana M;
Calzada-Hernández, Joan;
Marín, Silvia;
Cardona-Hernandez, Roque;
Oriola, Josep;
Nicolás, Marta;
Ramon-Krauel, Marta

Publication type:

Journal Article

Patient With iDEND Syndrome--Related Mutation.

Published in:

Diabetes Care, 2014, v. 37, n. 6, p. e123, doi. 10.2337/dc13-2877

By:

Prado-Carro, Ana M.;
Calzada-Hernández, Joan;
Marín, Silvia;
Cardona-Hernandez, Roque;
Oriola, Josep;
Nicolás, Marta;
Ramon-Krauel, Marta

Publication type:

Article

Adult-onset atypical (type 1) diabetes: additional insights and differences with type 1A diabetes in a European Mediterranean population.

Published in:

2004

By:

Aguilera, Eva;
Gomis, Ramon;
Conget, Ignacio;
Casamitjana, Roser;
Oriola, Josep;
Ercilla, Guadalupe

Publication type:

journal article

Practical consensus for the treatment and follow-up of primary aldosteronism: a multidisciplinary consensus document.

Published in:

Endocrine (1355008X), 2024, v. 85, n. 2, p. 532, doi. 10.1007/s12020-024-03773-9

By:

Araujo-Castro, Marta;
Ruiz-Sánchez, Jorge Gabriel;
Ramírez, Paola Parra;
Martín Rojas-Marcos, Patricia;
Aguilera-Saborido, Almudena;
Gómez Cerezo, Jorge Francisco;
López Lazareno, Nieves;
Torregrosa, María Eugenia;
Gorrín Ramos, Jorge;
Oriola, Josep;
Poch, Esteban;
Oliveras, Anna;
Méndez Monter, José Vicente;
Gómez Muriel, Isabel;
Bella-Cueto, María Rosa;
Mercader Cidoncha, Enrique;
Runkle, Isabelle;
Hanzu, Felicia A.

Publication type:

Article

Screening and diagnosis of primary aldosteronism. Consensus document of all the Spanish Societies involved in the management of primary aldosteronism.

Published in:

Endocrine (1355008X), 2024, v. 85, n. 1, p. 99, doi. 10.1007/s12020-024-03751-1

By:

Araujo-Castro, Marta;
Ruiz-Sánchez, Jorge Gabriel;
Parra Ramírez, Paola;
Martín Rojas-Marcos, Patricia;
Aguilera-Saborido, Almudena;
Gómez Cerezo, Jorge Francisco;
López Lazareno, Nieves;
Torregrosa Quesada, María Eugenia;
Gorrin Ramos, Jorge;
Oriola, Josep;
Poch, Esteban;
Oliveras, Anna;
Méndez Monter, José Vicente;
Gómez Muriel, Isabel;
Bella-Cueto, María Rosa;
Mercader Cidoncha, Enrique;
Runkle, Isabelle;
Hanzu, Felicia A.

Publication type:

Article

Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia.

Published in:

Endocrine (1355008X), 2024, v. 83, n. 3, p. 747, doi. 10.1007/s12020-023-03560-y

By:

Asla, Queralt;
Sardà, Helena;
Seguí, Núria;
Martínez de Pinillos, Guillermo;
Mazarico-Altisent, Isabel;
Capel, Ismael;
Rives, José;
Suárez, Javier;
Ávila-Rubio, Verónica;
Muñoz Torres, Manuel;
Saigí, Ignasi;
Palacios, Nuria;
Urgell, Eulàlia;
Webb, Susan M.;
Fernández, Mercè;
Oriola, Josep;
Mora, Mireia;
Tondo, Mireia;
Aulinas, Anna

Publication type:

Article

A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma.

Published in:

Familial Cancer, 2021, v. 20, n. 3, p. 253, doi. 10.1007/s10689-020-00214-0

By:

Oriola, Josep;
Sanchez, Aurora;
Paniello, Blanca;
de la Bellacasa, Jordi Puig;
Biarnés, Josefina

Publication type:

Article

Long term outcomes of pituitary adenomas in Multiple Endocrine Neoplasia type 1: a nationwide study.

Published in:

Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1427821

By:

Valdés, Nuria;
Romero, Ana;
Diego, Estrella;
Calatayud, María;
Lamas, Cristina;
Araujo-Castro, Marta;
Álvarez-Escolá, Cristina;
Díaz, José A.;
Alcázar, Victoria;
Sastre, Julia;
Martínez, Rosa;
Oriola, Josep;
Paja, Miguel;
Sánchez-Sobrino, Paula;
Salinas, Isabel;
María Recio-Córdova, José;
Navarro, Elena;
Chiara, María Dolores;
Castaño, Luis;
Casterás, Anna

Publication type:

Article

Association of p.His38Leu, a Rare CYP21A2 Mutation, with the Classical Simple Virilizing Phenotype of 21-Hydroxylase Deficiency in a 6-Year-Old Boy.

Published in:

Hormone Research in Paediatrics, 2011, v. 76, n. 3, p. 214, doi. 10.1159/000327366

By:

Oriola, Josep;
Bosch, Maria Zelmira;
Valls, Carme;
Ibáñez, Lourdes

Publication type:

Article

Sac I identifies a biallelic polymorphism in the coding sequence of the gamma subunit of the epithelial sodium channel (ENaC): a candidate gene for hypertension.

Published in:

Clinical Genetics, 1998, v. 54, n. 1, p. 104, doi. 10.1111/j.1399-0004.1998.tb03705.x

By:

Viaplana, Rita;
Poch, Esteban;
Lario, Sergio;
Oriola, Josep;
González, Daniel;
Botey, Albert;
Rivera, Francisca

Publication type:

Article

Two new polymorphisms in the BRCA 1 gene.

Published in:

Clinical Genetics, 1997, v. 51, n. 5, p. 361, doi. 10.1111/j.1399-0004.1997.tb02490.x

By:

Oriola, Josep;
Titos, Esther;
Leivas, Albert;
Navarro, Miguel-Angel;
Rivera-Fillat, Francisca

Publication type:

Article

Mspl identifies a biallelic polymorphism in the promoter region of the α.

Published in:

Clinical Genetics, 1997, v. 51, n. 2, p. 129, doi. 10.1111/j.1399-0004.1997.tb02436.x

By:

Lario, Sergio;
Calls, Jordi;
Cases, Aleix;
Oriola, Josep;
Torras, Albert;
Rivera, Francisca

Publication type:

Article

Angiotensin converting enzyme gene I/D polymorphism in essential hypertension and nephroangiosclerosis.

Published in:

Kidney International, 1998, v. 53, n. 6, p. 1743, doi. 10.1046/j.1523-1755.1998.00946.x

By:

Fernández-Llama, Patricia;
Poch, Esteban;
Oriola, Josep;
Botey, Albert;
Coll, Elisabet;
Darnell, Alejandro;
Rivera, Francisca;
Revert, Luis

Publication type:

Article

Lack of association between nitric oxide synthase gene polymorphism and silent cerebral white matter lesions in essential hypertension

Published in:

2002

By:

Antonio, Maria Teresa;
Sierra, Cristina;
Oriola, Josep;
Poch, Esteban;
Coca, Antonio;
de la Sierra, Alejandro

Publication type:

Abstract

P-74: Angiotensin converting enzyme (ACE) gene polymorphism and silent cerebral white matter lesions in middle-aged essential hypertensive patients.

Published in:

American Journal of Hypertension, 2001, v. 14, p. 54A, doi. 10.1016/S0895-7061(01)01585-0

By:

Sierra, Cristina;
de la Sierra, Alejandro;
Gomez-Angelats, Elisenda;
Poch, Esteban;
Oriola, Josep;
Coca, Antonio

Publication type:

Article

Angiotensinogen Gene M235T and T174M Polymorphisms in Essential Hypertension<sup>*</sup>.

Published in:

American Journal of Hypertension, 1998, v. 11, n. 4, p. 439, doi. 10.1016/S0895-7061(97)00483-4

By:

Fernández-Llama, Patricia;
Poch, Esteban;
Oriola, Josep;
Botey, Albert;
Rivera, Francisca;
Revert, Luis

Publication type:

Article

Genetic analysis of seven Mediterranean families with multiple endocrine neoplasia type 2A.

Published in:

Clinical Endocrinology, 1996, v. 44, n. 2, p. 207, doi. 10.1046/j.1365-2265.1996.652473.x

By:

Oriola, Josep;
Hernandez, Cristina;
Simo, Rafael;
Barceló, Anna;
Casamitjana, Roser;
Vilardell, Enric;
Rivera-Fillat, Francisca

Publication type:

Article

Angiotensin-Converting Enzyme Gene Polymorphism Is Associated with Vulnerability to Alcoholic Cardiomyopathy.

Published in:

Annals of Internal Medicine, 2002, v. 137, n. 5, p. 321, doi. 10.7326/0003-4819-137-5_Part_1-200209030-00007

By:

FernáNdez-Solà, Joaquim;
Nicolás, Josep María;
Oriola, Josep;
Sacanella, Emilio;
Estruch, Ramón;
Rubin, Emanuel;
Urbano-Márquez, Alvaro

Publication type:

Article

Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.

Published in:

Head & Neck, 2019, v. 41, n. 1, p. 79, doi. 10.1002/hed.25386

By:

Bernardo‐Castiñeira, Cristóbal;
Sáenz‐de‐Santa‐María, Inés;
Valdés, Nuria;
Astudillo, Aurora;
Balbín, Milagros;
Pitiot, Ana S.;
Jiménez‐Fonseca, Paula;
Scola, Bartolomé;
Tena, Isabel;
Molina‐Garrido, María‐José;
Sevilla, María‐Agustina;
Beristein, Elena;
Forga, Lluís;
Villabona, Carles;
Oriola, Josep;
Halperin, Irene;
Suarez, Carlos;
Chiara, María‐Dolores

Publication type:

Article