Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Nuria Goñi Ros"'
1
Akademický článek
A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report
Autor: Jose Cuenca Alcocel, Elena Criado Álamo, Elvira Salvador-Rupérez, Nuria Goñi Ros, Silvia Izquierdo Álvarez, Jose Luis Peña Segura, Ricardo González-Tarancón
Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF is characterize by developmental delay, intellectual disability, poor expressi
Externí odkaz: https://doaj.org/article/9993d9e32479434ea854f905a57c64c2
Zobrazit plný text záznamu
2
Akademický článek
Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes
Autor: Paula Sienes Bailo, Nuria Goñi-Ros, José Gazulla, Sara Álvarez de Andrés, Ignacio Ros Arnal, Silvia Izquierdo Álvarez
Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)
Abstract Background Waardenburg syndrome (WS) is a rare genetic disorder characterized by musculoskeletal abnormalities, deafness and hypopigmentation of hair and skin. This article’s aim is to investigate clinical and genetic characteristics of WS
Externí odkaz: https://doaj.org/article/8e582fcb304f406bbb797dd48c873cc5
Zobrazit plný text záznamu
3
Tamaño de repeticiones CTG no aumentado en la transmisión de un padre con alelo expandido: falsa sospecha de fenómeno de contracción
Autor: Nuria Goñi Ros, Paula Sienes Bailo, Ricardo González Tarancón, Loreto Martorell Sampol, Silvia Izquierdo Álvarez
Publikováno v: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio.
Resumen Objetivos La distrofia miotónica tipo 1, conocida también como enfermedad de Steinert, es un desorden multisistémico crónico, degenerativo e incapacitante de expresividad clínica muy variable provocado por una expansión heredada de mane
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::998d55fe1c7da198993edfc0a5e1ffab
https://doi.org/10.1515/almed-2022-0120
Zobrazit plný text záznamu
7
A novel pathogenic variant in LCAT causing FLD. A case report
Autor: Elvira Salvador-Ruperez, Ricardo Gonzalez-Tarancon, Nuria Goñi Ros, José Puzo Foncillas, Martín Puzo Bayod, Paula Sienes Bailo
Publikováno v: Acta clinica Belgica. 77(6)
BACKGROUND Fish-eye disease (FED) is due to a partial deficiency in LCAT activity. Nevertheless, Familial lecithin-cholesterol acyltransferase deficiency (FLD), also called Norum disease, appears when the deficiency is complete. They are both rare ge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8957a0b6bfd3fa78f98676359ae544bb
https://pubmed.ncbi.nlm.nih.gov/34789074
Zobrazit plný text záznamu
8
Akademický článek
Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study
Autor: Ricardo González-Tarancón, Nuria Goñi-Ros, Elvira Salvador-Rupérez, Ángela Hernández-Martín, Silvia Izquierdo-Álvarez, José Puzo-Foncillas, Yolanda Gilaberte-Calzada
Publikováno v: JMIR Dermatology, Vol 6, p e39567 (2023)
BackgroundAtopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single-nucleotide polymorphi
Externí odkaz: https://doaj.org/article/a962beda92c54a0aa9f666248f68e46d
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje