Camacho JA - Search Results

1

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.

Dugan SL, Panza E, Openshaw A, Botto LD, Camacho JA, Toydemir RM. Dugan SL, et al. Among authors: camacho ja. Am J Med Genet A. 2018 Dec;176(12):2901-2906. doi: 10.1002/ajmg.a.40664. Epub 2018 Oct 22. Am J Med Genet A. 2018. PMID: 30346094

2

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network; Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. Barish S, et al. Among authors: camacho j. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232675 Free PMC article.

3

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD. Camacho JA, et al. Pediatr Res. 2006 Oct;60(4):423-9. doi: 10.1203/01.pdr.0000238301.25938.f5. Epub 2006 Aug 28. Pediatr Res. 2006. PMID: 16940241

4

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.

Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J. Camacho JA, et al. Mol Genet Metab. 2003 Aug;79(4):257-71. doi: 10.1016/s1096-7192(03)00105-7. Mol Genet Metab. 2003. PMID: 12948741

5

The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Camacho JA, Rioseco-Camacho N. Camacho JA, et al. Pediatr Res. 2009 Jul;66(1):35-41. doi: 10.1203/PDR.0b013e3181a283c1. Pediatr Res. 2009. PMID: 19287344

6

Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.

Tezcan K, Louie KT, Qu Y, Velasquez J, Zaldivar F, Rioseco-Camacho N, Camacho JA. Tezcan K, et al. Among authors: camacho ja. JIMD Rep. 2012;3:97-102. doi: 10.1007/8904_2011_71. Epub 2011 Sep 22. JIMD Rep. 2012. PMID: 23430880 Free PMC article.

7

Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Camacho JA, et al. Nat Genet. 1999 Jun;22(2):151-8. doi: 10.1038/9658. Nat Genet. 1999. PMID: 10369256

8

Assessment of the effects of cannabidiol and a CBD-rich hemp extract in Caenorhabditis elegans.

Camacho JA, Welch B, Ferguson M, Sepehr E, Vaught C, Zhao Y, Fitzpatrick S, Yourick J, Sprando RL, Hunt PR. Camacho JA, et al. Front Toxicol. 2024 Oct 1;6:1469341. doi: 10.3389/ftox.2024.1469341. eCollection 2024. Front Toxicol. 2024. PMID: 39420966 Free PMC article.

9

Individual, household and institutional level predictors of waste sorting: Evidence for Ecuador.

Toledo E, Camacho JA, Rodríguez M, Alvarado R. Toledo E, et al. Among authors: camacho ja. Waste Manag Res. 2024 Sep 27:734242X241281823. doi: 10.1177/0734242X241281823. Online ahead of print. Waste Manag Res. 2024. PMID: 39331377

10

Rural-urban differences in the perceived impact of COVID-19 on mental health by European women.

Rodríguez M, Camacho JA. Rodríguez M, et al. Among authors: camacho ja. Arch Womens Ment Health. 2024 Aug;27(4):547-555. doi: 10.1007/s00737-024-01443-3. Epub 2024 Feb 13. Arch Womens Ment Health. 2024. PMID: 38347220 Free PMC article.

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