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Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 12, p. 2341, doi. 10.1210/js.2019-00306
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- Article
Genetic assessment in primary hyperoxaluria: why it matters.
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- Pediatric Nephrology, 2023, v. 38, n. 3, p. 625, doi. 10.1007/s00467-022-05613-2
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- Publication type:
- Article
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria.
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- Pediatric Nephrology, 2017, v. 32, n. 11, p. 2159, doi. 10.1007/s00467-017-3741-1
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- Publication type:
- Article
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 2, p. 137, doi. 10.1159/000507577
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- Article
Molecular aetiology of primary hyperoxaluria and its implications for clinical management.
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- Expert Reviews in Molecular Medicine, 2004, v. 6, n. 1, p. 1, doi. 10.1017/S1462399404007203
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- Article
Primary hyperoxaluria type 2 without l‐glycericaciduria: is the disease under‐diagnosed?
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- Nephrology Dialysis Transplantation, 2001, v. 16, n. 8, p. 1697, doi. 10.1093/ndt/16.8.1697
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- Publication type:
- Article
Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.
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- Pediatric Nephrology, 2003, v. 18, n. 5, p. 482, doi. 10.1007/s00467-003-1107-3
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- Publication type:
- Article
Primary hyperoxaluria type 2 in children.
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- Pediatric Nephrology, 2002, v. 17, n. 8, p. 597, doi. 10.1007/s00467-002-0858-6
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- Publication type:
- Article
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
- Published in:
- Kidney International, 2004, v. 66, n. 3, p. 959, doi. 10.1111/j.1523-1755.2004.00842.x
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- Publication type:
- Article
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.
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- Kidney International, 2002, v. 62, n. 2, p. 392, doi. 10.1046/j.1523-1755.2002.00468.x
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- Publication type:
- Article
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
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- 2010
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- Publication type:
- journal article
Chronic kidney disease with three cases of oxalate-like nephrosis in Ragdoll cats
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- Journal of Feline Medicine & Surgery, 2009, v. 11, n. 6, p. 474, doi. 10.1016/j.jfms.2008.11.003
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- Publication type:
- Article
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 69, doi. 10.1002/mgg3.118
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- Publication type:
- Article
Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria.
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- 2016
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- Publication type:
- journal article
The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre.
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- Annals of Clinical Biochemistry, 2015, v. 52, n. 1, p. 113, doi. 10.1177/0004563214529937
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- Publication type:
- Article
Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues.
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- Clinical Endocrinology, 2006, v. 64, n. 1, p. 2, doi. 10.1111/j.1365-2265.2005.02410.x
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- Publication type:
- Article
Genetics: The tyrosine kinase domain of the insulin receptor gene is normal in women with hyperinsulinaemia and polycystic ovary syndrome.
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- Human Reproduction, 1994, v. 9, n. 9, p. 1681
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- Publication type:
- Article
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
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- Kidney International, 2014, v. 86, n. 6, p. 1197, doi. 10.1038/ki.2014.222
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- Publication type:
- Article
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
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- 2009
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- Publication type:
- Other
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2(Communicated by Linda Tyfield)Online Citation: Human Mutation, Mutation in Brief #671 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/671.pdf)
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- Human Mutation, 2003, v. 22, n. 6, p. 497, doi. 10.1002/humu.9200
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- Publication type:
- Article
Plasma oxalate: comparison of methodologies.
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- Urolithiasis, 2020, v. 48, n. 6, p. 473, doi. 10.1007/s00240-020-01197-4
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- Publication type:
- Article
Urine oxalate biological variation in patients with primary hyperoxaluria.
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- Urolithiasis, 2016, v. 44, n. 4, p. 333, doi. 10.1007/s00240-016-0860-2
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- Publication type:
- Article
Biochemical composition of urolithiasis from stone dust - a matched-pair analysis.
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- BJU International, 2016, v. 118, n. 4, p. 618, doi. 10.1111/bju.13448
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- Publication type:
- Article
Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.
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- 2012
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- Publication type:
- case study
Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.
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- New Zealand Medical Journal, 2012, v. 125, n. 1355, p. 71
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- Publication type:
- Article
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.
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- Urological Research, 2009, v. 37, n. 3, p. 127, doi. 10.1007/s00240-009-0185-5
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- Publication type:
- Article
Proceedings of the 8th International Primary Hyperoxaluria Workshop, UCL-Institute of Child Health, 29–30 June 2007.
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- 2007
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- Publication type:
- Abstract
An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.
- Published in:
- Urological Research, 2005, v. 33, n. 5, p. 318, doi. 10.1007/s00240-005-0494-2
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- Publication type:
- Article
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 8, p. 3191, doi. 10.1093/ndt/gfs039
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- Publication type:
- Article
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 5, p. 1729
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- Publication type:
- Article
Intra-Familial Clinical Heterogeneity: Absence of Genotype-Phenotype Correlation in Primary Hyperoxaluria Type 1 in Israel.
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- American Journal of Nephrology, 2005, v. 25, n. 3, p. 269, doi. 10.1159/000086357
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- Publication type:
- Article
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
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- European Journal of Endocrinology, 2015, v. 172, n. 6, p. 745, doi. 10.1530/EJE-14-0994
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- Publication type:
- Article
Using Machine Learning to Aid the Interpretation of Urine Steroid Profiles.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 11, p. 1586, doi. 10.1373/clinchem.2018.292201
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- Publication type:
- Article