Genetic testing in renal disease (Q37880653)

24 August 2017

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title

Genetic testing in renal disease (English)

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24 August 2017

4

Robert Kleta

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24 August 2017

1

Detlef Bockenhauer

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24 August 2017

3

Emma Ashton

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24 August 2017

Alan J Medlar

2

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PubMed ID

21617915

24 August 2017

Nick Lench

series ordinal

5

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24 August 2017

27 May 2011

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24 August 2017

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24 August 2017

27

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24 August 2017

873-883

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24 August 2017

6

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https://scigraph.springernature.com/pub.10.1007/s00467-011-1865-2

24 August 2017

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Long-term follow-up of well-treated nephropathic cystinosis patients

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First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

21 January 2018

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Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus.

21 January 2018

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Clinical practice. Autosomal dominant polycystic kidney disease

21 January 2018

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21 January 2018

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Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00467-011-1865-2

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1865-2

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1865-2

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1865-2

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00467-011-1865-2

Renal malformations associated with mutations of developmental genes: messages from the clinic

21 January 2018

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Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1865-2

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome

21 January 2018

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Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus

21 January 2018

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Protein misfolding and degradation in genetic diseases.

21 January 2018

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Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

21 January 2018

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Unusual clinical presentation and possible rescue of a novel claudin-16 mutation

21 January 2018

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Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-011-1865-2

Antenatal Bartter's syndrome: why is this not a lethal condition?

21 January 2018

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Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases.

21 January 2018

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Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

21 January 2018

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NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

21 January 2018

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

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SLCO1B1 variants and statin-induced myopathy--a genomewide study

21 January 2018

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Can we personalize treatment for kidney diseases?

21 January 2018

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Cytochrome P450 pharmacogenetics as a predictor of toxicity and clinical response to pulse cyclophosphamide in lupus nephritis

21 January 2018

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HER2--a discussion of testing approaches in the USA.

21 January 2018

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KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program.

21 January 2018

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KRAS mutation testing in colorectal cancer

21 January 2018

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

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Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

21 January 2018

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Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

21 January 2018

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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

21 January 2018

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The array CGH and its clinical applications

21 January 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

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DNA sequencing with chain-terminating inhibitors

21 January 2018

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Next-generation sequencing transforms today's biology

21 January 2018

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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

21 January 2018

1 reference

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

21 January 2018

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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

21 January 2018

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NT5E mutations and arterial calcifications

21 January 2018

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Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy

21 January 2018

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MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis

21 January 2018

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MYH9 is associated with nondiabetic end-stage renal disease in African Americans

21 January 2018

1 reference

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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

21 January 2018

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Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

21 January 2018

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The apolipoprotein L1 (APOL1) gene and nondiabetic nephropathy in African Americans

21 January 2018

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Association of trypanolytic ApoL1 variants with kidney disease in African Americans

21 January 2018

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K-ras mutations in colorectal cancer: a practice changing discovery

21 January 2018

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12 December 2020

Clinical trials treating focal segmental glomerulosclerosis should measure patient quality of life

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12 December 2020

Prevalence of Mitochondrial 1555A→G Mutation in European Children

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12 December 2020

Problems with 'focal segmental glomerulosclerosis'.

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12 December 2020

Biochemical basis of partial nephrogenic diabetes insipidus phenotypes

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12 December 2020

Regulating direct-to-consumer genetic tests: What is all the fuss about?

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12 December 2020

Molecular testing in solid tumors: an overview

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12 December 2020

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

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12 December 2020

10.1007/S00467-011-1865-2

Identifiers

DOI

1 reference

24 August 2017

1 reference

PubMed ID

21617915