Etiología de la hipofosfatemia en adultos

Article

Medicina Clínica, 2025, 164(1), 30-37

 Authorship: NURIA PUENTE RUIZ, MARIA DEL CARMEN VALERO DIAZ DE LAMADRID, JOSE ANTONIO RIANCHO MORAL

 2025

Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

Article

Communications Biology, 2025, 8(1), 33

 Authorship: JOSÉ LUIS CABRERA ALARCON, RAQUEL CRUZ, MARINA ROSA MORENO, ANA LATORRE PELLICER, SILVIA DIZ DE ALMEIDA, ÁNGEL CARRACEDO, PABLO LAPUNZINA, AUGUSTO ROJAS MARTINEZ, JOSE ANTONIO RIANCHO MORAL, CARLOS FLORES, SANDRA ZAZO, RUTH ZARATE, ANTONIO ZAPATERO GAVIRIA, ZULEIMA YÁÑEZ, TATIANA X. COSTA, ANA VIRSEDA-BERDICES, PABLO VILLOSLADA-BLANCO, CRISTINA VILLAVERDE, JUDIT VILLAR-GARCIA, MARIA DEL CARMEN GARCIA IBARBIA

 2025

Osteomesopyknosis: a bone-sclerosing disorder that may be confused with bone metastases

Article

Calcified Tissue International, 2025,116(1), 53

 Authorship: JOSE ANTONIO RIANCHO MORAL, ÁLVARO DEL REAL BOLT, ANA ISABEL VEGA COSIO, ROSA MARIA LANDERAS ALVARO, ANIBAL FERRERIRA, ANA C. FERREIRA, JOSE SAINZ, REMEDIOS QUIRCE PISANO, EVA MARTÍNEZ DE CASTRO

 2025

Pharmacogenomic study of SARS-CoV-2 treatments: identifying polymorphisms associated with treatment response in COVID-19 patients

Article

Biomedicines, 2025,13(3), 553

 Authorship: ALEXANDRE SERRA LLOVICH, NATALIA CULLELL, OLALLA MAROÑAS, MARÍA JOSÉ HERRERO, RAQUEL CRUZ, BERTA ALMOGUERA, CARMEN AYUSO, ROSARIO LÓPEZ RODRÍGUEZ, ELENA DOMÍNGUEZ GARRIDO, ROCIO ORTIZ LOPEZ, MARÍA BARREDA SÁNCHEZ, MARTA CORTON, DAVID DALMAU, ESTHER CALBO, LUCÍA BOIX PALOP, BEATRIZ DIETL, ANNA SANGIL, ALMUDENA GIL RODRIGUEZ, ENCARNA GUILLÉN NAVARRO, JOSE ANTONIO RIANCHO MORAL

 2025

Polygenic risk of idiopathic pulmonary fibrosis and COVID-19 severity

Article

ERJ Open Research, 2025, 11, 00978-2024

 Authorship: BEATRIZ GUILLEN-GUIO, ITAHISA MARCELINO-RODRÍGUEZ, JOSÉ MIGUEL LORENZO-SALAZAR, OLIVIA C. LEAVY, RICHARD J. ALLEN, ERICKA N. POMPA-MERA, JOSE ANTONIO RIANCHO MORAL, AUGUSTO ROJAS-MARTÍNEZ, PABLO LAPUNZINA, ÁNGEL CARRACEDO, LOUISE V. WAIN, CARLOS FLORES

 2025

The p.R321C mutation in the p62 protein is associated with abnormalities in the central nervous system

Article

Scientific Reports, 2025, 15(1), 16929

 Authorship: RICARDO USATEGUI MARTÍN, VEGA ESTEBAN LÓPEZ, ESTEFANÍA CHANTRE FORTES, MANUEL SÁNCHEZ MARTÍN, JOSE ANTONIO RIANCHO MORAL, DOLORES E. LÓPEZ, ROGELIO GONZÁLEZ SARMIENTO

 2025

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia

Article

Osteoporosis International, 2025, 36(9),1743-1747

 Authorship: SOFÍA ALVAREZ, AMELIA OCAMPO IBAÑEZ, PATRICIA C. CASO, ÁLVARO DEL REAL BOLT, NURIA PUENTE RUIZ, ANA I. VEGA, LEYRE RIANCHO ZARRABEITIA, JOSE ANTONIO RIANCHO MORAL, MARIA TERESA GARCIA UNZUETA

 2025

A family with Meester-Loeys syndrome caused by a novel missense variant in the BGN gene

Article

International Journal of Molecular Sciences, 2025, 26(24), 12044

 Authorship: JOSE ANTONIO RIANCHO MORAL, ANA I. VEGA, ÁLVARO DEL REAL BOLT, MARIA CAROLINA SAÑUDO CAMPO, JOSÉ L. PÉREZ-CASTRILLÓN, RAQUEL GARCIA LOPEZ, NURIA PUENTE RUIZ, JUAN FRANCISCO NISTAL HERRERA, JOSÉ L. FERNÁNDEZ-LUNA

 2025

Actualización de las guías de manejo de la osteoporosis de la SEIOMM: abaloparatida

Article

Revista Clínica Española, 2025, 225(8), 61-70

 Authorship: JOSE ANTONIO RIANCHO MORAL, MARTA MARTIN MILLAN, P. PERIS, G. MARTÍNEZ

 2025

Update of the SEIOMM clinical guideline of osteoporosis: abaloparatide

Article

Revista Clínica Española, 2025, 225(8), 502338

 Authorship: JOSE ANTONIO RIANCHO MORAL, MARTA MARTIN MILLAN, PERIS P., MARTÍNEZ G.

 2025

High frequencies of genetic variants in patients with atypical femoral fractures

Article

International Journal of Molecular Sciences, 2024, 25, 2321

 Authorship: ÁLVARO DEL REAL BOLT, RAQUEL CRUZ, MARIA CAROLINA SAÑUDO CAMPO, JOSÉ L. PÉREZ-CASTRILLÓN, JOSÉ M. OLMOS, JOSE LUIS HERNANDEZ HERNANDEZ, CARMEN GARCÍA-IBARRA, MARIA DEL CARMEN VALERO DIAZ DE LAMADRID, JOSE ANTONIO RIANCHO MORAL, MARIA ISABEL PEREZ NUÑEZ

 2024

A missense variant in TP53 could be a genetic biomarker associated with bone tissue alterations

Article

International Journal of Molecular Sciences, 2024, 25(3), 1395

 Authorship: RICARDO USATEGUI-MARTÍN, NADIA GALINDO-CABELLO, SALVADOR PASTOR-IDOATE, JOSÉ MARÍA FERNÁNDEZ-GÓMEZ, ÁLVARO DEL REAL BOLT, DIEGO FERREÑO BLANCO, REBECA LAPRESA, FRANCISCO MARTÍN-RODRIGUEZ, JOSE ANTONIO RIANCHO MORAL, ÁNGELES ALMEIDA, JOSÉ LUIS PÉREZ-CASTRILLÓN

 01/01/2024

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway

Article

Molecular Genetics and Genomic Medicine, 2024, 12, e2471

 Authorship: JOSE LUIS FERNANDEZ LUNA, JOSE LUIS HERNANDEZ HERNANDEZ, SORAYA CURIEL DEL OLMO, NÉSTOR A. MARTÍNEZ-AMADOR, ANA I. VEGA, REMEDIOS QUIRCE PISANO, SANTIAGO MONTES MORENO, OLGA GUTIÉRREZ, ÁLVARO DEL REAL BOLT, MARIA CAROLINA SAÑUDO CAMPO, JOSE ANTONIO RIANCHO MORAL

 2024

Worldwide distribution of genetic factors related to severity of COVID-19 infection

Article

Annals of Human Biology, 2024, 51(1)

 Authorship: MARÍA ESTHER ESTEBAN, DÉBORA PINO, ALICIA ROMERO-LORCA, APOLONIA NOVILLO, MRÍA GAIBAR, JOSE ANTONIO RIANCHO MORAL, AUGUSTO ROJAS-MARTÍNEZ, CARLOS FLORES, PABLO LAPUNZINA, ÁNGEL CARRACEDO, GEORGIOS ATHANASIADIS, ANA FERNÁNDEZ-SANTANDER

 2024

Infección sistémica por Campylobacter en un paciente con agammaglobulinemia

Article

Medicina Clínica, 2024, 163(1), 49-50

 Authorship: ÁLEX GARCÍA TELLADO, ROSA MARIA HERRERAS MARTINEZ, JOSE ANTONIO RIANCHO MORAL

 2024

Novel risk loci for COVID-19 hospitalization among admixed American populations

Article

eLife, 2024, 13, RP93666

 Authorship: SILVIA DIZ-DE ALMEIDA, RAQUEL CRUZ, ANDRE D. LUCHESSI, JOSÉ M LORENZO SALAZAR, MIGUEL LÓPEZ DE HEREDIA, INÉS QUINTELA, RAFAELA GONZÁLEZ MONTELONGO, VIVIAN NOGUEIRA SILBIGER, MARTA SEVILLA PORRAS, JAIR ANTONIO TENORIO CASTAÑO, JUAN NEVADO, JOSE MARÍA AGUADO, CARLOS AGUILAR, SERGIO AGUILERA ALBESA, VIRGINIA ALMADANA, BERTA ALMOGUERA, NURIA ALVAREZ, MARIA DEL CARMEN FARIÑAS ALVAREZ, JOSE ANTONIO RIANCHO MORAL, ESTHER TAMAYO REVUELTA

 2024

Limitations of immunodeficient mice as models for osteoporosis studies

Article

Revista de Osteoporosis y Metabolismo Mineral, 2024, 16(1), 10-15

 Authorship: ÁLVARO DEL REAL BOLT, LAURA LÓPEZ-DELGADO, MARIA CAROLINA SAÑUDO CAMPO, BELEN MARIA GARCIA MONTESINOS PEREA, CARLOS WERT CARVAJAL, MARIA ESTHER LAGUNA BERCERO, MARIA DEL CARMEN GARCIA IBARBIA, JOSE ADOLFO SAINZ-AJA GUERRA, DIEGO FERREÑO BLANCO, JOSE ANTONIO CASADO DEL PRADO, GUILLERMO MENENDEZ SOLANA, MARIA ISABEL PEREZ NUÑEZ, JOSE ANTONIO RIANCHO MORAL

 2024

Clonal chromosomal mosaicism and loss of chromosome y in elderly men increase vulnerability for SARS-CoV-2

Article

Communications Biology, 2024, 7(1), 202

 Authorship: LUIS ÁNGEL PÉREZ JURADO, ALEJANDRO CÁCERES, LAURA BALAGUÉ DOBÓN, TONU ESKO, MIGUEL LÓPEZ DE HEREDIA, INÉS QUINTELA, RAQUEL CRUZ, PABLO LAPUNZINA, ÁNGEL CARRACEDO, MARIA DEL CARMEN GARCIA IBARBIA, JOSE ANTONIO RIANCHO MORAL, MARIA DEL CARMEN FARIÑAS ALVAREZ, JUAN R. GONZÁLEZ

 2024

Temporo-spatial analysis of amyotrophic lateral sclerosis in Spain: altitude and land use as new determinants of the disease

Article

Science of the Total Environment, 2024, 957, 177796

 Authorship: ANA SANTURTUN ZARRABEITIA, PABLO MEDIN CARRACEDO, JOSE ANTONIO RIANCHO MORAL, MARINA SANTIAGO SETIEN, FERNANDO ORTIZ FLORES, ADOLFO LÓPEZ DE MUNAIN, RICARDO ALMENDRA, JAVIER RIANCHO ZARRABEITIA

 2024

Genetic causes of hypophosphatemia

Article

Minerva Medica, 2024, 115(3), 320-336

 Authorship: NURIA PUENTE RUIZ, PABLO SOLIS, JOSE ANTONIO RIANCHO MORAL

 2024

Utilidad de un test de suplementación para identificar mutaciones del gen ALPL en pacientes con fosfatasa alcalina baja

Conference object

Revista de Osteoporosis y Metabolismo Mineral, 2024, 16 (Supl.1), 34-35

 Authorship: SOFÍA ALVAREZ VILLALOBOS, PATRICIA CASO FERNÁNDEZ, ALVARO DEL REAL BOLT, NURIA PUENTE RUIZ, MARÍA TERESA GARCÍA UNZUETA, GEMA MARTIN TOCA, LEYRE RIANCHO ZARRABEITIA, ANA ISABEL VEGA PAJARES, JOSE ANTONIO RIANCHO MORAL

 2024

Explorando la diversidad fenotípica y genotípica del Síndrome de Microdeleción 1P36

Conference object

Revista Clinica Española, 2024, 224(Supl.1), S85

 Authorship: ÁLEX GARCÍA TELLADO, MÓNICA GARCÍA CASTRO, NURIA PUENTE RUIZ, SANDRA DE LA ROZ FERNÁNDEZ, JOSE LUIS FERNANDEZ LUNA, ANDREA SARIEGO JAMARDO, JOSE ANTONIO RIANCHO MORAL

 2024

Un síndrome de Ehlers-Danlos peculiar

Conference object

XIV Reunión de Enfermedades Minoritarias y V Reuniónde Enfermedades Minoritarias para Residentes: Libro de casos clínicos: camino de la innovación en las enfermedades minoritarias

 Authorship: PABLO SOLÍS SÁNCHEZ, MERCEDES DE LA FUENTE VÁZQUEZ, PABLO ALIJA PIRET, ANA ISABEL VEGA PAJARES, JOSE ANTONIO RIANCHO MORAL, NURIA PUENTE RUIZ

 2024

Expanding the etiology of oculo-auriculo-vertebral spectrum: a novel interstitial microdeletion at 1p36

Article

International Journal of Molecular Sciences, 2023, 24(1), 36

 Authorship: MÓNICA GARCÍA-CASTRO, TERESA MARTÍNEZ-MERINO, NURIA PUENTE, JOSE ANTONIO RIANCHO MORAL

 2023

Miembro del comité editorial

BMC Medical Genetics

ISSN: 1471-2350

Start date: 30/09/2011 Finish date: 31/03/2025

Miembro de la Comisión de Acreditación de la ANECA

Comisión de Acreditación de CU-Salud

Start date: 05/10/2012 Finish date: 31/12/2014

Miembro del comité editorial

Clinical Reviews in Bone and Mineral Metabolism

ISSN: 1534-8644,1559-0119

Start date: 17/11/2016 Finish date: 11/02/2020

Miembro del comité editorial

Revista de Osteoporosis y Metabolismo Mineral

ISSN: 1889-836X,2173-2345

Start date: 01/01/2017 Finish date: 31/03/2025