Ramos C - Search Results

1

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C. Lorda-Sanchez IJ, et al. Among authors: ramos c. Ophthalmic Genet. 2000 Sep;21(3):185-9. Ophthalmic Genet. 2000. PMID: 11035551

2

Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.

Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Among authors: ramos c. Ophthalmic Genet. 1999 Jun;20(2):127-31. doi: 10.1076/opge.20.2.127.2289. Ophthalmic Genet. 1999. PMID: 10420199

3

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.

Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Trujillo MJ, et al. Among authors: ramos c. Ophthalmic Genet. 2000 Dec;21(4):251-6. Ophthalmic Genet. 2000. PMID: 11135497

4

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

Lorda-Sanchez I, Lopez-Pajares I, Roche MC, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Among authors: ramos c. Am J Med Genet. 2000 Dec 11;95(4):336-8. Am J Med Genet. 2000. PMID: 11186887

5

A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers.

Lorda-Sanchez I, Tejedor C, Sanz R, Rodriguez de Alba M, de la Fuente A, Fernandez E, Ayuso C, Ramos C. Lorda-Sanchez I, et al. Among authors: ramos c. Genet Couns. 2001;12(1):95-100. Genet Couns. 2001. PMID: 11332984

6

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.

Lorda-Sanchez I, Sanz R, Diaz-Guillen MA, Fernandez-Toral J, Heine-Suñer D, Rodriguez De Alba M, Gonzalez-Gonzalez C, Trujillo MJ, Ramos C, Rodriguez De Cordoba S, Ayuso C. Lorda-Sanchez I, et al. Among authors: ramos c. Genet Couns. 2002;13(2):171-7. Genet Couns. 2002. PMID: 12150218

7

New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation.

García-Hoyos M, Sanz R, Diego-Alvarez D, Lorda-Sánchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Ramos C, Ayuso C. García-Hoyos M, et al. Among authors: ramos c. Am J Med Genet A. 2005 Nov 1;138(4):365-8. doi: 10.1002/ajmg.a.30987. Am J Med Genet A. 2005. PMID: 16222660

8

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: ramos 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

9

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH.

Lorda-Sánchez I, Diego-Alvarez D, Ayuso C, de Alba MR, Trujillo MJ, Ramos C. Lorda-Sánchez I, et al. Among authors: ramos c. Prenat Diagn. 2005 Oct;25(10):934-8. doi: 10.1002/pd.1239. Prenat Diagn. 2005. PMID: 16088866

10

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C. Martinez-Glez V, et al. Among authors: ramos c. Eur J Med Genet. 2007 Mar-Apr;50(2):120-7. doi: 10.1016/j.ejmg.2006.10.005. Epub 2006 Oct 28. Eur J Med Genet. 2007. PMID: 17157569

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