Pandey AV - Search Results

1

Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S. Konrad M, et al. Among authors: pandey av. Am J Hum Genet. 2006 Nov;79(5):949-57. doi: 10.1086/508617. Epub 2006 Sep 19. Am J Hum Genet. 2006. PMID: 17033971 Free PMC article.

2

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

Flück CE, Meyer-Böni M, Pandey AV, Kempná P, Miller WL, Schoenle EJ, Biason-Lauber A. Flück CE, et al. Among authors: pandey av. Am J Hum Genet. 2011 Aug 12;89(2):201-18. doi: 10.1016/j.ajhg.2011.06.009. Epub 2011 Jul 28. Am J Hum Genet. 2011. PMID: 21802064 Free PMC article.

3

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Balmer C, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J. Balmer C, et al. Among authors: pandey av. Hum Mutat. 2014 Jan;35(1):27-35. doi: 10.1002/humu.22469. Epub 2013 Nov 25. Hum Mutat. 2014. PMID: 24166829

4

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Grassi M, Laubscher B, Pandey AV, Tschumi S, Graber F, Schaller A, Janner M, Aeberli D, Hewer E, Nuoffer JM, Gautschi M. Grassi M, et al. Among authors: pandey av. Mol Syndromol. 2023 Aug;14(4):347-361. doi: 10.1159/000529306. Epub 2023 Apr 12. Mol Syndromol. 2023. PMID: 37766831 Free PMC article.

5

Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein.

Janner M, Pandey AV, Mullis PE, Flück CE. Janner M, et al. Among authors: pandey av. Eur J Endocrinol. 2006 Jul;155(1):143-51. doi: 10.1530/eje.1.02172. Eur J Endocrinol. 2006. PMID: 16793961

6

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.

Hirsch A, Meimaridou E, Fernandez-Cancio M, Pandey AV, Clemente M, Audi L, Clark AJ, Flück CE. Hirsch A, et al. Among authors: pandey av. J Clin Endocrinol Metab. 2011 Jan;96(1):E65-72. doi: 10.1210/jc.2010-1056. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962024

7

Biochemical analysis of mutations in P450 oxidoreductase.

Pandey AV. Pandey AV. Biochem Soc Trans. 2006 Dec;34(Pt 6):1186-91. doi: 10.1042/BST0341186. Biochem Soc Trans. 2006. PMID: 17073782

8

In silico and functional studies reveal novel loss-of-function variants of SRD5A2, but no variants explaining excess 5α-reductase activity.

Katharopoulos E, Sauter K, Pandey AV, Flück CE. Katharopoulos E, et al. Among authors: pandey av. J Steroid Biochem Mol Biol. 2019 Jun;190:263-272. doi: 10.1016/j.jsbmb.2019.01.017. Epub 2019 Jan 28. J Steroid Biochem Mol Biol. 2019. PMID: 30703436

9

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Huang N, et al. Among authors: pandey av. Am J Hum Genet. 2005 May;76(5):729-49. doi: 10.1086/429417. Epub 2005 Mar 25. Am J Hum Genet. 2005. PMID: 15793702 Free PMC article.

10

Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase.

Flück CE, Nicolo C, Pandey AV. Flück CE, et al. Among authors: pandey av. Fundam Clin Pharmacol. 2007 Aug;21(4):399-410. doi: 10.1111/j.1472-8206.2007.00520.x. Fundam Clin Pharmacol. 2007. PMID: 17635179 Review.

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