Córdova-Fletes C - Search Results

1

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.

Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala JN, Morales-Jeanhs EA, García-Ortiz JE, León-Gil A, Rivera H, Domínguez MG, Kalscheuer VM. Córdova-Fletes C, et al. Clin Genet. 2010 Jan;77(1):92-6. doi: 10.1111/j.1399-0004.2009.01286.x. Epub 2009 Oct 5. Clin Genet. 2010. PMID: 19807736 No abstract available.

2

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.

3

De novo dir dup/del of 18q characterized by SNP arrays and FISH in a girl child with mixed phenotypes.

Córdova-Fletes C, Sáinz-González E, Avendaño-Gálvez RI, Ramírez-Velazco A, Rivera H, Ortiz-López R, Arámbula-Meraz E, Picos-Cárdenas VJ. Córdova-Fletes C, et al. J Genet. 2014 Dec;93(3):869-73. doi: 10.1007/s12041-014-0459-8. J Genet. 2014. PMID: 25572250 No abstract available.

4

Interstitial 1q42-q44 deletion defined by FISH in a short-lived female.

Córdova-Fletes C, Domínguez MG, Díaz-Rodríguez M, Ramírez-Dueñas ML, Rivera H. Córdova-Fletes C, et al. Genet Couns. 2008;19(1):65-9. Genet Couns. 2008. PMID: 18564503

5

De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl.

Sánchez-Casillas AL, Rivera H, Castro-Martínez AG, García-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P. Sánchez-Casillas AL, et al. Ann Lab Med. 2017 Jan;37(1):88-91. doi: 10.3343/alm.2017.37.1.88. Ann Lab Med. 2017. PMID: 27834075 Free PMC article. No abstract available.

6

Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q.

Vásquez-Velásquez AI, Rivera H, Castro AG, Jaloma-Cruz AR, Juárez CI, Lara-Navarro IJ, Córdova-Fletes C, Mendoza-Pérez P, García-Ortiz JE. Vásquez-Velásquez AI, et al. Taiwan J Obstet Gynecol. 2016 Apr;55(2):275-80. doi: 10.1016/j.tjog.2015.09.004. Taiwan J Obstet Gynecol. 2016. PMID: 27125414 Free article.

7

A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: appraisal of interstitial mid-13q deletions.

Córdova-Fletes C, Rivera H, Garza-Villarreal EA, Vázquéz-Cárdenas NA, Martínez-Jacobo LA, Moreno-Andrade T. Córdova-Fletes C, et al. Clin Dysmorphol. 2017 Jan;26(1):33-37. doi: 10.1097/MCD.0000000000000159. Clin Dysmorphol. 2017. PMID: 27750267 No abstract available.

8

A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.

Córdova-Fletes C, Domínguez MG, Vázquez-Cárdenas A, Figuera LE, Neira VA, Rojas-Martínez A, Ortiz-López R. Córdova-Fletes C, et al. Mol Syndromol. 2012 Sep;3(3):131-135. doi: 10.1159/000341632. Epub 2012 Aug 1. Mol Syndromol. 2012. PMID: 23112755 Free PMC article.

9

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

10

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

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