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Page 1
Analysis of CGG variation through 642 meioses in Fragile X families.
Rifé M, Badenas C, Quintó L, Puigoriol E, Tazón B, Rodriguez-Revenga L, Jiménez L, Sánchez A, Milà M. Rifé M, et al. Among authors: sanchez a. Mol Hum Reprod. 2004 Oct;10(10):773-6. doi: 10.1093/molehr/gah102. Epub 2004 Aug 20. Mol Hum Reprod. 2004. PMID: 15322225
46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.
Rodriguez-Revenga L, Badenas C, Madrigal I, Sánchez A, Soler A, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: sanchez a. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059
Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) region.
Morales C, Madrigal I, Esqué T, de la Fuente JE, Rodríguez JM, Margarit E, Soler A, Sánchez A. Morales C, et al. Among authors: sanchez a. Am J Med Genet A. 2007 Jan 15;143A(2):179-83. doi: 10.1002/ajmg.a.31570. Am J Med Genet A. 2007. PMID: 17163539
A retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses.
Soler A, Morales C, Badenas C, Rodríguez-Revenga L, Carrió A, Margarit E, Costa D, Borrell A, Goncé A, Milà M, Sánchez A. Soler A, et al. Among authors: sanchez a. Fetal Diagn Ther. 2008;23(2):126-31. doi: 10.1159/000111592. Epub 2007 Nov 26. Fetal Diagn Ther. 2008. PMID: 18046070
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.
Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández I, Arranz JA, Tejada M, Pérez-Jurado LA, Estivill X, Milà M. Madrigal I, et al. Among authors: sanchez a. BMC Genomics. 2007 Nov 29;8:443. doi: 10.1186/1471-2164-8-443. BMC Genomics. 2007. PMID: 18047645 Free PMC article.
5,450 results