Diego-Álvarez D - Search Results

1

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

Mademont-Soler I, Casellas-Vidal D, Trujillo A, Espuña-Capote N, Maroto A, García-González MDM, Ruiz MD, Diego-Álvarez D, Queralt X, Perapoch J, Obón M. Mademont-Soler I, et al. Among authors: diego alvarez d. Am J Med Genet A. 2021 Feb;185(2):476-485. doi: 10.1002/ajmg.a.61996. Epub 2020 Dec 2. Am J Med Genet A. 2021. PMID: 33269555

2

Mishra R, Kulshreshtha S, Mandal K, Khurana A, Diego-Álvarez D, Pradas L, Saxena R, Phadke S, Moirangthem A, Masih S, Sud S, Verma IC, Dua Puri R. Mishra R, et al. Among authors: diego alvarez d. Am J Med Genet A. 2022 Aug;188(8):2339-2350. doi: 10.1002/ajmg.a.62768. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35499143

3

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. 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

4

A small and active ring X chromosome in a female with features of Kabuki syndrome.

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML. Rodríguez L, et al. Among authors: diego alvarez d. Am J Med Genet A. 2008 Nov 1;146A(21):2816-21. doi: 10.1002/ajmg.a.32521. Am J Med Genet A. 2008. PMID: 18925662

5

New type of mutations in three spanish families with choroideremia.

Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C. Garcia-Hoyos M, et al. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1315-21. doi: 10.1167/iovs.07-1169. Invest Ophthalmol Vis Sci. 2008. PMID: 18385043

6

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. Prenat Diagn. 2005 Oct;25(10):934-8. doi: 10.1002/pd.1239. Prenat Diagn. 2005. PMID: 16088866

7

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. 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

8

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease.

González-González MC, Garcia-Hoyos M, Trujillo-Tiebas MJ, Bustamante Aragonés A, Rodriguez de Alba M, Diego Alvarez D, Diaz-Recasens J, Ayuso C, Ramos C. González-González MC, et al. Among authors: diego alvarez d. J Assist Reprod Genet. 2008 Sep-Oct;25(9-10):477-81. doi: 10.1007/s10815-008-9256-8. Epub 2008 Oct 14. J Assist Reprod Genet. 2008. PMID: 18853247 Free PMC article.

9

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages.

Diego-Alvarez D, Garcia-Hoyos M, Trujillo MJ, Gonzalez-Gonzalez C, Rodriguez de Alba M, Ayuso C, Ramos-Corrales C, Lorda-Sanchez I. Diego-Alvarez D, et al. Hum Reprod. 2005 May;20(5):1235-43. doi: 10.1093/humrep/deh781. Epub 2005 Mar 10. Hum Reprod. 2005. PMID: 15760965

10

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin-Garcia E, Ayuso C, Lorda-Sanchez I. Diego-Alvarez D, et al. Hum Reprod. 2006 Apr;21(4):958-66. doi: 10.1093/humrep/dei406. Epub 2005 Dec 16. Hum Reprod. 2006. PMID: 16361293

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