Carrero-Valenzuela R - Search Results

1

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Litt M, et al. Among authors: carrero valenzuela r. Hum Mol Genet. 1997 May;6(5):665-8. doi: 10.1093/hmg/6.5.665. Hum Mol Genet. 1997. PMID: 9158139

2

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22.

Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M. Kramer P, et al. Genomics. 1996 Aug 1;35(3):539-42. doi: 10.1006/geno.1996.0395. Genomics. 1996. PMID: 8812489 Free article.

3

Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.

Carrero-Valenzuela RD, Klein ML, Weleber RG, Murphey WH, Litt M. Carrero-Valenzuela RD, et al. Arch Ophthalmol. 1996 Jun;114(6):737-8. doi: 10.1001/archopht.1996.01100130729016. Arch Ophthalmol. 1996. PMID: 8639088

4

Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family.

Carrero-Valenzuela RD, Quan F, Lightowlers R, Kennaway NG, Litt M, Forte M. Carrero-Valenzuela RD, et al. Gene. 1991 Jun 30;102(2):229-36. doi: 10.1016/0378-1119(91)90082-m. Gene. 1991. PMID: 1651883

5

Gene symbol: ABCD1.

Dvorakova L, Myskova H, Carrero-Valenzuela RD, Antelo T, Fagalde J, Merched D. Dvorakova L, et al. Among authors: carrero valenzuela rd. Hum Genet. 2007 Apr;121(2):287. Hum Genet. 2007. PMID: 17598197 No abstract available.

6

Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency.

Kennaway NG, Carrero-Valenzuela RD, Ewart G, Balan VK, Lightowlers R, Zhang YZ, Powell BR, Capaldi RA, Buist NR. Kennaway NG, et al. Pediatr Res. 1990 Nov;28(5):529-35. doi: 10.1203/00006450-199011000-00024. Pediatr Res. 1990. PMID: 2175025 Review.

7

Gene symbol: ABCD1.

Dvoráková L, Carrero-Valenzuela RD, Antelo T, Fagalde J, Merched D. Dvoráková L, et al. Among authors: carrero valenzuela rd. Hum Genet. 2007 Apr;121(2):288. Hum Genet. 2007. PMID: 17598227 No abstract available.

8

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.

Beryozkin A, Aweidah H, Carrero Valenzuela RD, Berman M, Iguzquiza O, Cremers FPM, Khan MI, Swaroop A, Amer R, Khateb S, Ben-Yosef T, Sharon D, Banin E. Beryozkin A, et al. Among authors: carrero valenzuela rd. Front Cell Dev Biol. 2021 Oct 14;9:746781. doi: 10.3389/fcell.2021.746781. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34722527 Free PMC article.

9

Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family.

Adela Avila S, Peñaloza J, González F, Abdo I, Rainville I, Root E, Carrero Valenzuela RD, Garber J. Adela Avila S, et al. Among authors: carrero valenzuela rd. Acta Gastroenterol Latinoam. 2014 Mar;44(1):9-15. Acta Gastroenterol Latinoam. 2014. PMID: 24847623

10

Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.

Gerding WM, Koetting J, Rey LP, Bibas Bonet H, Abdala ME, Mazzeo A, Mostacciuolo ML, Arning L, Carrero-Valenzuela R. Gerding WM, et al. Among authors: carrero valenzuela r. Mol Cell Probes. 2013 Jun-Aug;27(3-4):118-21. doi: 10.1016/j.mcp.2013.01.002. Epub 2013 Feb 4. Mol Cell Probes. 2013. PMID: 23384994

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