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Page 1
Myeloproliferative disorder in Noonan syndrome.
Bastida P, García-Miñaúr S, Ezquieta B, Dapena JL, Sanchez de Toledo J. Bastida P, et al. J Pediatr Hematol Oncol. 2011 Jan;33(1):e43-5. doi: 10.1097/MPH.0b013e3181e7571e. J Pediatr Hematol Oncol. 2011. PMID: 20829714
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L. Ezquieta B, et al. Rev Esp Cardiol (Engl Ed). 2012 May;65(5):447-55. doi: 10.1016/j.recesp.2011.12.016. Epub 2012 Mar 31. Rev Esp Cardiol (Engl Ed). 2012. PMID: 22465605 English, Spanish.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y. Yaoita M, et al. Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29. Hum Genet. 2016. PMID: 26714497
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.
García-Miñaúr S, Burkitt-Wright E, Verloes A, Shaikh G, Lebl J, Östman-Smith I, Wolf CM, Ortega Castelló E, Tartaglia M, Zenker M, Edouard T. García-Miñaúr S, et al. Eur J Med Genet. 2022 Jan;65(1):104371. doi: 10.1016/j.ejmg.2021.104371. Epub 2021 Oct 29. Eur J Med Genet. 2022. PMID: 34757053 Free article.
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, Alcochea A, Carrión J, Arias P, Almoguera B, López-Grondona F, Lorda-Sanchez I, Galán-Gómez E, Valenzuela I, Méndez Perez MP, Cuscó I, Barros F, Pié J, Ramos S, Ramos FJ, Kuechler A, Tizzano E, Ayuso C, Kaiser FJ, Pérez-Jurado LA, Carracedo Á, The ENoD-Ciberer Consortium, The Side Consortium, Lapunzina P. Tenorio-Castaño J, et al. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. Genes (Basel). 2021. PMID: 34068396 Free PMC article.
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.
Edouard T, Zenker M, Östman-Smith I, Ortega Castelló E, Wolf CM, Burkitt-Wright E, Verloes A, García-Miñaúr S, Tartaglia M, Shaikh G, Lebl J. Edouard T, et al. Eur J Med Genet. 2022 Jan;65(1):104404. doi: 10.1016/j.ejmg.2021.104404. Epub 2021 Dec 9. Eur J Med Genet. 2022. PMID: 34896604 Free article.
Multiple-marker screen positive results in Noonan syndrome.
Aranguren G, García-Miñaur S, Loridan L, Uribarren A, Martín Vargas L, Rodríguez-Soriano J. Aranguren G, et al. Prenat Diagn. 1996 Feb;16(2):183-4. doi: 10.1002/(SICI)1097-0223(199602)16:2<183::AID-PD850>3.0.CO;2-F. Prenat Diagn. 1996. PMID: 8650132 No abstract available.
132 results