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

30 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Flores-Contreras EA, García-Ortiz JE, Robles-Espinoza CD, Zomosa-Signoret V, Becerra-Solano LE, Vidaltamayo R, Castaneda-García C, Esparza-García E, Molina-Aguilar C, Hernández-Orozco AA, Córdova-Fletes C. Flores-Contreras EA, et al. Among authors: cordova fletes c. Mol Syndromol. 2021 Jul;12(4):250-257. doi: 10.1159/000515081. Epub 2021 Jun 17. Mol Syndromol. 2021. PMID: 34421504 Free PMC article.
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Córdova-Fletes C, Becerra-Solano LE, Rangel-Sosa MM, Rivas-Estilla AM, Alberto Galán-Huerta K, Ortiz-López R, Rojas-Martínez A, Juárez-Vázquez CI, García-Ortiz JE. Córdova-Fletes C, et al. Eur J Med Genet. 2018 Mar;61(3):161-167. doi: 10.1016/j.ejmg.2017.11.011. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174089
Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.
García-Ortiz JE, Zarazúa-Niño AI, Hernández-Orozco AA, Reyes-Oliva EA, Pérez-Ávila CE, Becerra-Solano LE, Galán-Huerta KA, Rivas-Estilla AM, Córdova-Fletes C. García-Ortiz JE, et al. J Autism Dev Disord. 2020 Jun;50(6):2247-2251. doi: 10.1007/s10803-019-03951-z. J Autism Dev Disord. 2020. PMID: 30826922 No abstract available.
Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, Rivera H, Jave-Suárez L, Aguilar-Lemarroy A, Torres-Reyes LA, Córdova-Fletes C, Barros-Núñez P, Delgadillo-Pérez S, Dávalos-Rodríguez IP, García-Ortiz JE, Domínguez MG. Ramírez-Velazco A, et al. J Genet. 2019 Jun;98(2):34. J Genet. 2019. PMID: 31204697 Free article.
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.
Córdova-Fletes C, Rangel-Sosa MM, Martínez-Jacobo LA, Becerra-Solano LE, Arellano-Valdés CA, Tlacuilo-Parra JA, Galán-Huerta KA, Rivas-Estilla AM, Hernandez-Orozco AA, García-Ortiz JE. Córdova-Fletes C, et al. Autoimmunity. 2020 Sep;53(6):344-352. doi: 10.1080/08916934.2020.1786068. Epub 2020 Jun 29. Autoimmunity. 2020. PMID: 32597225
Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies.
Ornelas-Arana ML, Pérez-Garcia G, Robles-Espinoza CD, Rangel-Sosa MM, Castaneda-Garcia C, Juárez-Vázquez CI, López-Pérez LG, Pérez-Ornelas C, Hernández-Zaragoza G, Lara-Aguilar RA, Córdova-Fletes C. Ornelas-Arana ML, et al. Among authors: cordova fletes c. Cytogenet Genome Res. 2020;160(10):579-588. doi: 10.1159/000511234. Epub 2020 Nov 5. Cytogenet Genome Res. 2020. PMID: 33152732
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
Córdova-Fletes C, Rivera H, Aguayo-Orozco TA, Martínez-Jacobo LA, Garza-González E, Robles-Espinoza CD, Basurto-Lozada P, Avalos-Gómez HG, Esparza-García E, Domínguez-Quezada MG. Córdova-Fletes C, et al. Eur J Med Genet. 2022 Oct;65(10):104579. doi: 10.1016/j.ejmg.2022.104579. Epub 2022 Aug 3. Eur J Med Genet. 2022. PMID: 35933106
30 results