Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Autor: Carcavilla A; Pediatric Endocrinology Department, Hospital Universitario La Paz, 28046 Madrid, Spain.; Multidisciplinary Unit for RASopathies, Hospital Universitario La Paz, 28046 Madrid, Spain., Cambra A; Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.; Gregorio Marañon Health Research Institute (IiSGM), 28009 Madrid, Spain., Santomé JL; Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.; Gregorio Marañon Health Research Institute (IiSGM), 28009 Madrid, Spain., Seidel V; Clinical Genetics Unit, Pediatrics Department, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain., Cruz J; Pediatrics Department, Hospital Universitario Doce de Octubre, 28041 Madrid, Spain., Alonso M; Pediatrics Department, Hospital Ramón y Cajal, 28034 Madrid, Spain., Pozo J; Pediatric Endocrinology Department, Hospital Universitario Niño Jesús, 28009 Madrid, Spain., Valenzuela I; Genetics Department, Hospital Universitario Vall D'Hebrón, 08035 Barcelona, Spain., Guillén-Navarro E; Genetics Department, Hospital Virgen de la Arrixaca, 30120 Murcia, Spain., Santos-Simarro F; Multidisciplinary Unit for RASopathies, Hospital Universitario La Paz, 28046 Madrid, Spain.; Institute of Medical & Molecular Genetics, Hospital Universitario la Paz, 28046 Madrid, Spain., González-Casado I; Pediatric Endocrinology Department, Hospital Universitario La Paz, 28046 Madrid, Spain.; Multidisciplinary Unit for RASopathies, Hospital Universitario La Paz, 28046 Madrid, Spain., Rodríguez A; Gregorio Marañon Health Research Institute (IiSGM), 28009 Madrid, Spain.; Pediatric Endocrinology, Pediatrics Department, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain., Medrano C; Gregorio Marañon Health Research Institute (IiSGM), 28009 Madrid, Spain.; Pediatric Cardiology Department, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain., López-Siguero JP; Pediatric Endocrinology Department, Hospital Regional Universitario de Málaga, 29010 Málaga, Spain., Ezquieta B; Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.; Gregorio Marañon Health Research Institute (IiSGM), 28009 Madrid, Spain.

Publikováno v: Journal of clinical medicine [J Clin Med] 2023 Jul 29; Vol. 12 (15). Date of Electronic Publication: 2023 Jul 29.

A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21-hydroxylase.

Autor: Arriba M; Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain., Oriola J; Biochemistry and Molecular Genetics Service, CDB, Clinic Hospital, Barcelona, Spain.; Department of Biomedicine, Faculty of Medicine, University of Barcelona, Spain., Ezquieta B; Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain.

Publikováno v: Clinical genetics [Clin Genet] 2021 Nov; Vol. 100 (5), pp. 634-636. Date of Electronic Publication: 2021 Aug 09.

Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.

Autor: Chen, Ximin¹ (AUTHOR), Zhao, Jing² (AUTHOR), Li, Danhua³ (AUTHOR), Xi, Na¹ (AUTHOR), Yi, Danying¹ (AUTHOR), Yan, Mengjia¹ (AUTHOR), Yin, Yan¹ (AUTHOR), Wang, Xueyan¹ (AUTHOR) wanxueyang@163.com

Publikováno v: Molecular Genetics & Genomic Medicine. Nov2024, Vol. 12 Issue 11, p1-7. 7p.

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

Autor: Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B

Publikováno v: MEDICINA CLINICA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Objectives: To describe 11 patients with cardiofaciocutaneous syndrome (CFC) and compare them with 130 patients with other RAS-MAPK syndromes (111 Noonan syndrome patients [NS] and 19 patients with LEOPARD syndrome). Patients and methods: Clinical da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b893014233553589c94e8a8298b10263
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1717

Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/ CYP11B1 Gene.

Autor: Wenjuan Cai¹, Dan Yu¹, Jian Gao¹, Qian Deng¹, Huihui Lin², Yuqing Chen¹ chenyuqing_815@163.com

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology. Sep2024, Vol. 16 Issue 3, p372-378. 7p.