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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. Among authors: ayuso c. Genes (Basel). 2021 May 13;12(5):738. doi: 10.3390/genes12050738. Genes (Basel). 2021. PMID: 34068396 Free PMC article.
Does Bardet-Biedl syndrome have a characteristic face?
Lorda-Sanchez I, Ayuso C, Sanz R, Ibañez A. Lorda-Sanchez I, et al. Among authors: ayuso c. J Med Genet. 2001 May;38(5):E14. doi: 10.1136/jmg.38.5.e14. J Med Genet. 2001. PMID: 11333870 Free PMC article. No abstract available.
Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism.
Lorda-Sanchez I, Trujillo MJ, Gomez-Garre P, de Alba MR, Gonzalez-Gonzalez C, García-Hoyos M, Ayuso C, Ramos C. Lorda-Sanchez I, et al. Among authors: ayuso c. Am J Med Genet A. 2003 Aug 15;121A(1):20-4. doi: 10.1002/ajmg.a.10197. Am J Med Genet A. 2003. PMID: 12900896
Gene symbol: CFTR. Disease: Cystic fibrosis.
Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Trujillo-Tiebas MJ, et al. Among authors: ayuso c. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046061 No abstract available.
Prenatal diagnosis of 46, XX male fetus.
Trujillo-Tiebas MJ, González-González C, Lorda-Sánchez I, Querejeta ME, Ayuso C, Ramos C. Trujillo-Tiebas MJ, et al. Among authors: ayuso c. J Assist Reprod Genet. 2006 May;23(5):253-4. doi: 10.1007/s10815-005-9020-2. Epub 2006 May 25. J Assist Reprod Genet. 2006. PMID: 16724267 Free PMC article.
577 results