Clavero S - Search Results

1

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Clavero S, et al. Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24. Hum Mol Genet. 2010. PMID: 19934113 Free PMC article.

2

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

Bishop DF, Schneider-Yin X, Clavero S, Yoo HW, Minder EI, Desnick RJ. Bishop DF, et al. Among authors: clavero s. Blood. 2010 Feb 4;115(5):1062-9. doi: 10.1182/blood-2009-04-218016. Epub 2009 Nov 24. Blood. 2010. PMID: 19965637 Free PMC article.

3

Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.

Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Clavero S, et al. Mol Med. 2010 Sep-Oct;16(9-10):381-8. doi: 10.2119/molmed.2010.00038. Epub 2010 May 12. Mol Med. 2010. PMID: 20485863 Free PMC article.

4

Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.

Bishop DF, Clavero S, Mohandas N, Desnick RJ. Bishop DF, et al. Among authors: clavero s. Mol Med. 2011;17(7-8):748-56. doi: 10.2119/molmed.2010.00258. Epub 2011 Feb 25. Mol Med. 2011. PMID: 21365124 Free PMC article.

5

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses.

Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Clavero S, et al. Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10. Vet J. 2013. PMID: 24239138 Free PMC article.

6

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.

Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Yasuda M, et al. Among authors: clavero s. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099. Mol Med. 2015. PMID: 26062020 Free PMC article.

7

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.

Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Hasanoglu A, et al. Among authors: clavero s. J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20. J Inherit Metab Dis. 2011. PMID: 21103937 Free PMC article.

8

New splicing mutations in propionic acidemia.

Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B. Desviat LR, et al. Among authors: clavero s. J Hum Genet. 2006;51(11):992-997. doi: 10.1007/s10038-006-0068-3. Epub 2006 Oct 19. J Hum Genet. 2006. PMID: 17051315

9

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M. Desviat LR, et al. Among authors: clavero s. Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. doi: 10.1016/j.ymgme.2004.08.001. Mol Genet Metab. 2004. PMID: 15464417 Review.

10

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.

Clavero S, Pérez B, Rincón A, Ugarte M, Desviat LR. Clavero S, et al. Hum Genet. 2004 Aug;115(3):239-47. doi: 10.1007/s00439-004-1147-1. Epub 2004 Jul 2. Hum Genet. 2004. PMID: 15235904

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