José A. Riancho - Publications, H-index & Citations

José A. Riancho

hospital universitario marques de valdecilla

49H指数

339论文数

9.7K被引数

收录论文 102

发表时间

Phenotypic Heterogeneity Among Carriers of the Same Pathogenic Variant in Hereditary Hemorrhagic Telangiectasia 同一致病变异携带者在遗传性出血性毛细血管扩张症中的表型异质性

Genes

IF2.8

2026-09-14

OAAI

Elena Urízar; Pablo Solis; Nuria Puente; Ana Fontalba; Roberto Zarrabeitia; José A. Riancho

Cerebrotendinous xanthomatosis without neurological manifestations: An atypical form with normal cholestanol levels cerebrotendinous黄斑瘤无神经学表现：一种胆甾烷醇水平正常的非典型形式

Medicina Clinica

IF2.1

2026-06-01

PREAI

Iribarren, Isabel; Paz, Nerea; Riancho, Jose A.

A Family with Meester–Loeys Syndrome Caused by a Novel Missense Variant in the BGN Gene Meester–Loeys综合征家系，由BGN基因中的一个新型错义变异引起

International Journal of Molecular Sciences 2025, Vol. 26, Page 12044

IF4.9

2025-12-15

OAAI

José A. Riancho; Ana I. Vega; Alvaro del Real; Carolina Sañudo; José L. Pérez-Castrillón; Raquel García-López; Nuria Puente; J. Francisco Nistal; José L. Fernández-Luna

Update of the SEIOMM clinical guideline of osteoporosis: abaloparatide 骨质疏松症SEIOMM临床指南的更新：abaloparatide

REVISTA CLINICA ESPANOLA

IF1.7

2025-09-01

OAAI

Riancho, J. A.; Millan, M. Martin; Peris, P.; Martinez, G.

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia 维生素B6挑战作为检测ALPL基因突变和诊断低磷酸酯酶症的工具

Osteoporosis International

IF5.4

2025-06-28

OAAI

Sofía Alvarez; Amelia Ocampo; Patricia C. Caso; Alvaro del Real; Nuria Puente; Ana I. Vega; Leyre Riancho-Zarrabeitia; María T. García-Unzueta; José A. Riancho

The p.R321C mutation in the p62 protein is associated with abnormalities in the central nervous system p62蛋白中的p.R321C突变与中枢神经系统异常相关。

SCIENTIFIC REPORTS

IF3.9

2025-05-15

OAAI

Usategui-Martin, Ricardo; Esteban-Lopez, Vega; Chantre-Fortes, Estefania; Sanchez-Martin, Manuel; Riancho, Jose A.; Lopez, Dolores E.; Gonzalez-Sarmiento, Rogelio

Osteomesopyknosis: A Bone-Sclerosing Disorder that May be Confused with Bone Metastases

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2025-03-14

OAAI

Riancho, Jose A.; del Real, Alvaro; Vega, Ana I.; Landeras, Rosa; Ferrerira, Anibal; Ferreira, Ana C.; Sainz, Jose; Quirce, Remedios; de Castro, Eva Martinez

Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

BIOMEDICINES

IF3.9

2025-02-21

OAAI

Serra-Llovich, Alexandre; Cullell, Natalia; Maronas, Olalla; Jose Herrero, Maria; Cruz, Raquel; Almoguera, Berta; Ayuso, Carmen; Lopez-Rodriguez, Rosario; Dominguez-Garrido, Elena; Ortiz-Lopez, Rocio; Barreda-Sanchez, Maria; Corton, Marta; Dalmau, David; Calbo, Esther; Boix-Palop, Lucia; Dietl, Beatriz; Sangil, Anna; Gil-Rodriguez, Almudena; Guillen-Navarro, Encarna; Mancebo, Esther; Lira-Albarran, Saul; Minguez, Pablo; Paz-Artal, Estela; Olivera, Gladys G.; Recarey-Rama, Sheila; Sendra, Luis; Zucchet, Enrique G.; Lopez de Heredia, Miguel; Flores, Carlos; Riancho, Jose A.; Rojas-Martinez, Augusto; Lapunzina, Pablo; Carracedo, Angel; Arranz, Maria J.

Etiology of hypophosphatemia in adults 成人低磷血症的病因学

MEDICINA CLINICA

IF2.1

2025-01-01

PREAI

Ruiz, Nuria Puente; de Lamadrid, M. Carmen Valero Diaz; Riancho, Jose A.

Psychiatric polygenic risk as a predictor of COVID-19 risk and severity: insight into the genetic overlap between schizophrenia and COVID-19

TRANSLATIONAL PSYCHIATRY

IF6.2

2023-06-06

OAAI

Alemany-Navarro, M.; Diz-de Almeida, S.; Cruz, R.; Riancho, J. A.; Rojas-Martinez, A.; Lapunzina, P.; Flores, C.; Carracedo, A.

Uncovering genetic causes of hypophosphatemia

JOURNAL OF INTERNAL MEDICINE

IF9.2

2023-04-16

OAAI

Puente-Ruiz, Nuria; Docio, Pablo; Unzueta, Maria T. Garcia; Lavin, Bernardo A.; Maiztegi, Ainhoa; Vega, Ana Isabel; Piedra, Maria; Riancho-Zarrabeitia, Leyre; Mateos, Fatima; Gonzalez-Lamuno, Domingo; Valero, Carmen; Riancho, Jose A.

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

COMMUNICATIONS BIOLOGY

IF5.1

2022-11-09

OAAI

Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjold, Agneta; Newman, William; Woolf, Adrian S.; Eckstein, Markus; Hilger, Alina C.; Dworschak, Gabriel C.; Roesch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M.; Hernandez, Jose L.; Erben, Philipp; Maj, Carlo; Olmos, Jose M.; Riancho, Jose A.; Valero, Carmen; Hostettler, Isabel C.; Houlden, Henry; Werring, David J.; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C.; Arkani, Samara; Akesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M.; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schafer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M.; van Rooij, Iris A. L. M.; Feitz, Wouter F. J.; Marcelis, Carlo L. M.; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P.; Chan, Melanie M. Y.; Ludwig, Kerstin U.; Noethen, Markus M.; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko

Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase 血清碱性磷酸酶低下患者的诊断方法

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2022-11-08

PREAI

Riancho, Jose A.

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench 高骨量障碍: 连接诊所和工作台的新见解

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2022-09-26

OAAI

Bergen, Dylan J. M.; Maurizi, Antonio; Formosa, Melissa M.; McDonald, Georgina L. K.; El-Gazzar, Ahmed; Hassan, Neelam; Brandi, Maria-Luisa; Riancho, Jose A.; Rivadeneira, Fernando; Ntzani, Evangelia; Duncan, Emma L.; Gregson, Celia L.; Kiel, Douglas P.; Zillikens, M. Carola; Sangiorgi, Luca; Hogler, Wolfgang; Duran, Ivan; Makitie, Outi; Van Hul, Wim; Hendrickx, Gretl

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

FRONTIERS IN ENDOCRINOLOGY

IF4.6

2022-08-11

OAAI

Santurtun, Maite; Mediavilla-Martinez, Eva; Vega, Ana, I; Gallego, Natalia; Heath, Karen E.; Tenorio, Jair A.; Lapunzina, Pablo; Riancho-Zarrabeitia, Leyre; Riancho, Jose A.

An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family

OSTEOPOROSIS INTERNATIONAL

IF5.4

2022-07-15

OAAI

Puente, Nuria; Vega, Ana, I; Hernandez, Jose L.; Fernandez-Luna, Jose L.; Riancho, Jose A.

Analysis of Serum Proteome after Treatment of Osteoporosis with Anabolic or Antiresorptive Drugs

METABOLITES

IF3.7

2022-04-28

OAAI

del Real, Alvaro; Ciordia, Sergio; Sanudo, Carolina; Garcia-Ibarbia, Carmen; Roa-Bautista, Adriel; Ocejo-Vinals, Javier G.; Corrales, Fernando; Riancho, Jose A.

Pharmacogenetics of Osteoporosis: A Pathway Analysis of the Genetic Influence on the Effects of Antiresorptive Drugs

PHARMACEUTICS

IF5.5

2022-04-02

OAAI

del Real, Alvaro; Valero, Carmen; Olmos, Jose M.; Hernandez, Jose L.; Riancho, Jose A.

Effective Osteogenic Priming of Mesenchymal Stem Cells through LNA-ASOs-Mediated Sfrp1 Gene Silencing

PHARMACEUTICS

IF5.5

2021-08-17

OAAI

Garcia-Sanchez, Daniel; Gonzalez-Gonzalez, Alberto; Garcia-Garcia, Patricia; Reyes, Ricardo; Perez-Nunez, Maria Isabel; Riancho, Jose A.; Evora, Carmen; Rodriguez-Rey, Jose Carlos; Perez-Campo, Flor M.

Analysis of volumetric BMD in people with Down syndrome using DXA-based 3D modeling

ARCHIVES OF OSTEOPOROSIS

IF2.8

2019-09-07

PREAI

Garcia Hoyos, Marta; Humbert, Ludovic; Salmon, Zaida; Riancho, Jose A.; Valero, Carmen

研究方向