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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. Among authors: becerra solano le. 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
Severe Craniofacial Involvement due to Amniotic Band Sequence.
Becerra-Solano LE, Castañeda-Cisneros G, Corona-Rivera JR, Díaz-Rodríguez M, Figuera LE, López-Muñoz E, Nastasi-Catanese JA, Toscano-Flores JJ, Ramírez-Dueñas ML, García-Ortíz JE. Becerra-Solano LE, et al. Fetal Pediatr Pathol. 2018 Feb;37(1):27-37. doi: 10.1080/15513815.2017.1392663. Epub 2018 Jan 16. Fetal Pediatr Pathol. 2018. PMID: 29336649
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. Among authors: becerra solano le. Autoimmunity. 2020 Sep;53(6):344-352. doi: 10.1080/08916934.2020.1786068. Epub 2020 Jun 29. Autoimmunity. 2020. PMID: 32597225
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. Among authors: becerra solano le. 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.
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: becerra solano le. Mol Syndromol. 2021 Jul;12(4):250-257. doi: 10.1159/000515081. Epub 2021 Jun 17. Mol Syndromol. 2021. PMID: 34421504 Free PMC article.
21 results