Zenteno JC - Search Results

1

The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss.

Estrada H, Buentello B, Zenteno JC, Fiszman R, Aguinaga M. Estrada H, et al. Among authors: zenteno jc. Prenat Diagn. 2013 Mar;33(3):205-8. doi: 10.1002/pd.4036. Epub 2013 Jan 28. Prenat Diagn. 2013. PMID: 23354651

2

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

Zenteno JC, Perez-Cano HJ, Aguinaga M. Zenteno JC, et al. Am J Med Genet A. 2006 Sep 15;140(18):1899-903. doi: 10.1002/ajmg.a.31384. Am J Med Genet A. 2006. PMID: 16892407

3

Sonic hedgehog mutation analysis in patients with VACTERL association.

Aguinaga M, Zenteno JC, Pérez-Cano H, Morán V. Aguinaga M, et al. Among authors: zenteno jc. Am J Med Genet A. 2010 Mar;152A(3):781-3. doi: 10.1002/ajmg.a.33293. Am J Med Genet A. 2010. PMID: 20186790 No abstract available.

4

Novel sonic hedgehog mutation in a couple with variable expression of holoprosencephaly.

Aguinaga M, Llano I, Zenteno JC, Kofman Alfaro S. Aguinaga M, et al. Among authors: zenteno jc. Case Rep Genet. 2011;2011:703497. doi: 10.1155/2011/703497. Epub 2011 Sep 8. Case Rep Genet. 2011. PMID: 23074678 Free PMC article.

5

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

Chacón-Camacho OF, Granillo-Alvarez M, Ayala-Ramírez R, Zenteno JC. Chacón-Camacho OF, et al. Among authors: zenteno jc. Exp Eye Res. 2013 Apr;109:77-82. doi: 10.1016/j.exer.2013.02.006. Epub 2013 Feb 16. Exp Eye Res. 2013. PMID: 23419329

6

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Pantoja-Melendez CA, Miranda-Duarte A, Roque-Ramirez B, Zenteno JC. Pantoja-Melendez CA, et al. Among authors: zenteno jc. PLoS One. 2017 Jan 19;12(1):e0170280. doi: 10.1371/journal.pone.0170280. eCollection 2017. PLoS One. 2017. PMID: 28103310 Free PMC article.

7

Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution.

Zenteno JC, Aguinaga M, Chávez V, Sastré N, Rivera MR, Kofman-Alfaro S. Zenteno JC, et al. Clin Genet. 1996 Sep;50(3):152-5. doi: 10.1111/j.1399-0004.1996.tb02371.x. Clin Genet. 1996. PMID: 8946115

8

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

Maya-Nuñez G, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez JP. Maya-Nuñez G, et al. Among authors: zenteno jc. J Clin Endocrinol Metab. 1998 May;83(5):1650-3. doi: 10.1210/jcem.83.5.4817. J Clin Endocrinol Metab. 1998. PMID: 9589672

9

Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity.

Chávez B, Vilchis F, Zenteno JC, Larrea F, Kofman-Alfaro S. Chávez B, et al. Among authors: zenteno jc. Clin Genet. 2001 Mar;59(3):185-8. doi: 10.1034/j.1399-0004.2001.590307.x. Clin Genet. 2001. PMID: 11260228

10

PAX6 gene intragenic deletions in Mexican patients with congenital aniridia.

Ramirez-Miranda A, Zenteno JC. Ramirez-Miranda A, et al. Among authors: zenteno jc. Mol Vis. 2006 Apr 7;12:318-23. Mol Vis. 2006. PMID: 16617299 Free article.

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