Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

80 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
An update on the genetics of usher syndrome.
Millán JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C. Millán JM, et al. J Ophthalmol. 2011;2011:417217. doi: 10.1155/2011/417217. Epub 2010 Dec 23. J Ophthalmol. 2011. PMID: 21234346 Free PMC article.
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Aguirre-Lamban J, González-Aguilera JJ, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Corton M, Blanco-Kelly F, Garcia-Sandoval B, Ayuso C. Aguirre-Lamban J, et al. Invest Ophthalmol Vis Sci. 2011 Aug 5;52(9):6206-12. doi: 10.1167/iovs.10-5743. Invest Ophthalmol Vis Sci. 2011. PMID: 21330655
Guidelines for genetic study of aniridia.
Blanco-Kelly F, Villaverde-Montero C, Lorda-Sánchez I, Millán JM, Trujillo-Tiebas MJ, Ayuso C. Blanco-Kelly F, et al. Arch Soc Esp Oftalmol. 2013 Apr;88(4):145-52. doi: 10.1016/j.oftal.2012.07.006. Epub 2012 Sep 25. Arch Soc Esp Oftalmol. 2013. PMID: 23597644 Review. English, Spanish.
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C. Riveiro-Alvarez R, et al. Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4. Ophthalmology. 2013. PMID: 23755871 Free PMC article.
80 results