Výsledky vyhledávání - "Karen E, Heath"

Akademický článek

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)

Abstract Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify t

Externí odkaz: https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51

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Akademický článek

Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia

Autor: Silvia Rodríguez del Rosario, Silvia Modamio-Høybjør, Karen E. Heath, M. Pilar Bahillo-Curieses

Publikováno v: Anales de Pediatría (English Edition), Vol 99, Iss 5, Pp 364-365 (2023)

Externí odkaz: https://doaj.org/article/5f97be446c3642fa9e0621591317a025

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Akademický článek

New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

Autor: Anna Sifre-Ruiz, Amaia Sagasta, Erika Santos, Guiomar Perez de Nanclares, Karen E. Heath

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-gen

Externí odkaz: https://doaj.org/article/03a98101038846149947fe8489b5d983

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Akademický článek

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Autor: Francisca Diaz-Gonzalez, Javier M. Sacedo-Gutiérrez, Stephen R. F. Twigg, Eduardo Calpena, Fernando E. Carceller-Benito, Manuel Parrón-Pajares, Fernando Santos-Simarro, Karen E. Heath

Publikováno v: Frontiers in Genetics, Vol 13 (2023)

Introduction: Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb anomalies, is caused by haploinsufficiency of TWIST1. Although the majority of vari

Externí odkaz: https://doaj.org/article/e827ad7f17224d91878b038e166912a2

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Akademický článek

Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento

Autor: Antonio Leiva Gea, María F. Martos Lirio, Ana Coral Barreda Bonis, Silvia Marín del Barrio, Karen E. Heath, Purificacion Marín Reina, Encarna Guillén Navarro, Fernando Santos Simarro, Isolina Riaño Galán, Diego Yeste Fernández, Isabel Leiva-Gea

Publikováno v: Anales de Pediatría, Vol 97, Iss 6, Pp 423-423.e10 (2022)

Resumen: La acondroplasia requiere un seguimiento multidisciplinario, con el objetivo de prevenir y manejar las complicaciones, mejorar la calidad de vida y favorecer su independencia e inclusión social. Esta revisión se justifica por las múltiple

Externí odkaz: https://doaj.org/article/e1c5ef52154b4fad8688d3cbad15254d

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Akademický článek

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

Autor: Maite Santurtún, Eva Mediavilla-Martinez, Ana I. Vega, Natalia Gallego, Karen E. Heath, Jair A. Tenorio, Pablo Lapunzina, Leyre Riancho-Zarrabeitia, José A. Riancho

Publikováno v: Frontiers in Endocrinology, Vol 13 (2022)

BackgroundLow serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown.

Externí odkaz: https://doaj.org/article/8176e5b8c97148f6a874f7041ae87df5

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Akademický článek

Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma

Publikováno v: Translational Oncology, Vol 13, Iss 7, Pp 100778- (2020)

Anal squamous cell carcinoma (ASCC) is a rare neoplasm. Chemoradiotherapy is the standard of care, with no therapeutic advances achieved over the past three decades. Thus, a deeper molecular characterization of this disease is still necessary. We ana

Externí odkaz: https://doaj.org/article/63d83246fc3d4f4a8991a5fc8d8faaad

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