Cuevas-Covarrubias S - Search Results

1

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants.

Saldaña-Martínez A, Muñoz ML, Pérez-Ramírez G, Montiel-Sosa JF, Montoya J, Emperador S, Ruiz-Pesini E, Cuevas-Covarrubias S, López-Valdez J, Ramírez RG. Saldaña-Martínez A, et al. Among authors: cuevas covarrubias s. Gene. 2019 Mar 10;688:171-181. doi: 10.1016/j.gene.2018.11.085. Epub 2018 Dec 5. Gene. 2019. PMID: 30528267

2

Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.

Lopez-Valdez J, Rivera-Vega MR, Gonzalez-Huerta LM, Cazarin J, Cuevas-Covarrubias S. Lopez-Valdez J, et al. Pediatr Dermatol. 2013 May-Jun;30(3):354-8. doi: 10.1111/pde.12027. Epub 2012 Dec 26. Pediatr Dermatol. 2013. PMID: 23278372

3

A CRYGC gene mutation associated with autosomal dominant pulverulent cataract.

González-Huerta LM, Messina-Baas O, Urueta H, Toral-López J, Cuevas-Covarrubias SA. González-Huerta LM, et al. Gene. 2013 Oct 15;529(1):181-5. doi: 10.1016/j.gene.2013.07.044. Epub 2013 Aug 14. Gene. 2013. PMID: 23954869

4

Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis.

Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA. Valdes-Flores M, et al. J Invest Dermatol. 2000 Mar;114(3):591-3. doi: 10.1046/j.1523-1747.2000.00924.x. J Invest Dermatol. 2000. PMID: 10692123 Free article.

5

Complete monosomy mosaic of chromosome 21: case report and review of literature.

Toral-Lopez J, Gonzalez-Huerta LM, Cuevas-Covarrubias SA. Toral-Lopez J, et al. Gene. 2012 Dec 1;510(2):175-9. doi: 10.1016/j.gene.2012.08.041. Epub 2012 Sep 8. Gene. 2012. PMID: 22985727 Review.

6

Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.

Maya-Núñez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Méndez JP. Maya-Núñez G, et al. Clin Endocrinol (Oxf). 1998 Jun;48(6):713-8. doi: 10.1046/j.1365-2265.1998.00406.x. Clin Endocrinol (Oxf). 1998. PMID: 9713559

7

Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis.

Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA. Valdes-Flores M, et al. J Invest Dermatol. 2001 Mar;116(3):456-8. doi: 10.1046/j.1523-1747.2001.01259.x. J Invest Dermatol. 2001. PMID: 11231321 Free article.

8

Molecular analysis of the NDP gene in two families with Norrie disease.

Rivera-Vega MR, Chiñas-Lopez S, Vaca AL, Arenas-Sordo ML, Kofman-Alfaro S, Messina-Baas O, Cuevas-Covarrubias SA. Rivera-Vega MR, et al. Acta Ophthalmol Scand. 2005 Apr;83(2):210-4. doi: 10.1111/j.1600-0420.2005.00398.x. Acta Ophthalmol Scand. 2005. PMID: 15799735 Free article.

9

Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.

Loeza-Becerra F, Rivera-Vega Mdel R, Martínez-Saucedo M, Gonzalez-Huerta LM, Urueta-Cuellar H, Berrruecos-Villalobos P, Cuevas-Covarrubias S. Loeza-Becerra F, et al. Int J Pediatr Otorhinolaryngol. 2014 Jul;78(7):1057-60. doi: 10.1016/j.ijporl.2014.04.002. Epub 2014 Apr 12. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24774219

10

Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab.

Toral-López J, González-Huerta LM, Martín-Del Campo M, Messina-Baas O, Cuevas-Covarrubias SA. Toral-López J, et al. Among authors: cuevas covarrubias sa. Pediatr Dermatol. 2018 May;35(3):e180-e183. doi: 10.1111/pde.13475. Epub 2018 Mar 23. Pediatr Dermatol. 2018. PMID: 29570830

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