Cargando…

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

Pulmonary arterial hypertension (PAH) is an infrequent disorder characterized by high blood pressure in the pulmonary arteries. It may lead to premature death or the requirement for lung and/or heart transplantation. Genetics plays an important and increasing role in the diagnosis of PAH. Here, we r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gallego-Zazo, Natalia, Miranda-Alcaraz, Lucía, Cruz-Utrilla, Alejandro, del Cerro Marín, María Jesús, Álvarez-Fuente, María, del Mar Rodríguez Vázquez del Rey, María, Guillén Rodríguez, Inmaculada, Becerra-Munoz, Victor Manuel, Moya-Bonora, Amparo, Ochoa Parra, Nuria, Parra, Alejandro, Pascual, Patricia, Cazalla, Mario, Silván, Cristina, Arias, Pedro, Valverde, Diana, de Jesús-Pérez, Vinicio, Lapunzina, Pablo, Escribano-Subías, Pilar, Tenorio-Castano, Jair
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606077/ https://www.ncbi.nlm.nih.gov/pubmed/37895315 http://dx.doi.org/10.3390/genes14101965

Ejemplares similares

Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature
por: Gallego-Zazo, Natalia, et al.
Publicado: (2022)

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry
por: Cruz-Utrilla, Alejandro, et al.
Publicado: (2022)

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension
por: Gallego, Natalia, et al.
Publicado: (2021)

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension
por: Castaño, Jair Antonio Tenorio, et al.
Publicado: (2020)

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease
por: Hernandez-Gonzalez, Ignacio, et al.
Publicado: (2021)

Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension
por: Pienkos, Shaun, et al.
Publicado: (2021)

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4
por: Hernandez-Gonzalez, Ignacio, et al.
Publicado: (2020)

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
por: Lago-Docampo, Mauro, et al.
Publicado: (2020)

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
por: Parra, Alejandro, et al.
Publicado: (2023)

Radiological Findings in Multidetector Computed Tomography (MDCT) of Hereditary and Sporadic Pulmonary Veno-Occlusive Disease: Certainties and Uncertainties
por: Pérez Núñez, Marta, et al.
Publicado: (2021)

Novel Molecular Mechanisms Involved in the Medical Treatment of Pulmonary Arterial Hypertension
por: Martin de Miguel, Irene, et al.
Publicado: (2023)

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
por: Cardoso, Leila Cabral de Almeida, et al.
Publicado: (2022)

How Mixed Relay Teams in Swimming Should Be Organized for International Championship Success
por: Veiga, Santiago, et al.
Publicado: (2021)

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
por: Pascual, Patricia, et al.
Publicado: (2023)

What is the Most Important Leg and Discipline in Triathlon Mixed Team Relays?
por: Martínez-Sobrino, Jesús, et al.
Publicado: (2023)

Relationship between Maximum Force–Velocity Exertion and Swimming Performances among Four Strokes over Medium and Short Distances: The Stronger on Dry Land, the Faster in Water?
por: Sorgente, Vincenzo, et al.
Publicado: (2023)

A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1
por: Peces, Ramón, et al.
Publicado: (2023)

Sleep characteristics in health workers exposed to the COVID-19 pandemic
por: Herrero San Martin, Alejandro, et al.
Publicado: (2020)

La restauración ecológica productiva: El camino para recuperar el patrimonio biocultural de los pueblos mesoamericanos
por: del Amo Rodríguez, Silvia, et al.
Publicado: (2019)

Sex Differences in Chronic Thromboembolic Pulmonary Hypertension. Treatment Options over Time in a National Referral Center
por: Cruz-Utrilla, Alejandro, et al.
Publicado: (2021)

Older or Wiser? Age and Experience Trends in 20 Years of Olympic and World Swimming Championships Open Water 10-km Races
por: Rodríguez-Adalia, Luis, et al.
Publicado: (2021)

Construcción del camino vecinal Taxipehuatl-Macuilacaco tramo 0+000 al 6+050 realizado en el municipio de Cuetzalan, Puebla. /Alejandro Parra Rodríguez
por: Parra Rodríguez, Alejandro
Publicado: (2002)

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
por: Sandoval-Talamantes, Ana Karen, et al.
Publicado: (2023)

Design of a Hyper-Redundant Robot and Teleoperation Using Mixed Reality for Inspection Tasks
por: Martín-Barrio, Andrés, et al.
Publicado: (2020)

Formation program on library and information services intended to attend indian rural mexican communities
por: MARTÍNEZ ARELLANO, FILIBERTO FELIPE, et al.
Publicado: (2002)

Competition and Training Strategies for Developing World Class 200- and 400-m Individual Medley Swimmers
por: González-Ravé, José María, et al.
Publicado: (2023)

Evolución del Liderazgo
por: Márquez Parra, María del Rocio
Publicado: (1996)

Antoinette F. Corréa (et al). Suministro de información rural en países en desarrollo: medición del desempeño e impacto
por: GRANIEL PARRA, MARÍA DEL ROCÍO
Publicado: (1999)

Patricia Hernández Salazar (coord.). Seminario latinoamericano sobre formación de usuarios de la información y los estudios de usuarios
por: GRANIEL PARRA, MARÍA DEL ROCÍO
Publicado: (1998)

Efectos de la progesterona sobre algunas estructuras nucleares de células endometriales de rata /
por: Parra Luna, María del Rosario
Publicado: (1983)

Mielolipoma suprarrenal, revisión de literatura en México a propósito de dos casos
por: Salgado-Álvarez, Giovanni Alejandro, et al.
Publicado: (2022)

The importance of previous season performance on world-class 200- and 400-m individual medley swimming
por: Del Castillo, Jose A, et al.
Publicado: (2021)

Casos exitosos en la construcción de sociedades sustentables
por: Silva Rivera, Evodia, et al.
Publicado: (2020)

Balloon pulmonary angioplasty can be an effective and safe therapeutic option in non-surgical elderly patients
por: Velázquez Martín, Maite, et al.
Publicado: (2022)

Cognitive–Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype–Phenotype Correlationships
por: Bel-Fenellós, Cristina, et al.
Publicado: (2023)

Effectiveness and Safety of Balloon Pulmonary Angioplasty for the Treatment of Patients with Persistent Pulmonary Hypertension after Pulmonary Endarterectomy
por: Maneiro Melon, Nicolas M., et al.
Publicado: (2023)

Glycolysis of Polyurethanes Composites Containing Nanosilica
por: del Amo, Jesus, et al.
Publicado: (2021)

Comparing the Pathway to Success in European Countries Competing in the Swimming World Championships
por: Yustres, Inmaculada, et al.
Publicado: (2019)

Analysis of World Championship Swimmers Using a Performance Progression Model
por: Yustres, Inmaculada, et al.
Publicado: (2020)

Swimming World Championships: Association between Success at the Junior and Senior Level for British Swimmers
por: Yustres, Inmaculada, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_4vluap8vqheijmdtlbvabouabs