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Quoted phrase not found in phrase index: "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"
Page 1
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1 or PKD2. ...Most patients with atypical disease did not have clinical features that predicted …
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a prevalence of 1/1000 and predominantly ca …
Cystic kidney disease: a primer.
Cramer MT, Guay-Woodford LM. Cramer MT, et al. Adv Chronic Kidney Dis. 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. Adv Chronic Kidney Dis. 2015. PMID: 26088074 Review.
In this review, we have categorized renal cystic disease according to inherited single-gene disorders, for example, autosomal recessive polycystic kidney disease; syndromic disorders associated with kidney cysts, for example, tuberous scleros …
In this review, we have categorized renal cystic disease according to inherited single-gene disorders, for example, autosomal recessi …
Polycystic kidney disease. 1: Identification and analysis of the primary defect.
Harris PC, Ward CJ, Peral B, Hughes J. Harris PC, et al. J Am Soc Nephrol. 1995 Oct;6(4):1125-33. doi: 10.1681/ASN.V641125. J Am Soc Nephrol. 1995. PMID: 8589278 Review.
The identification of the primary defect in autosomal dominant polycystic kidney disease (ADPKD) by biochemical methods has proved difficult because of the complexity of the cystic kidney. ...However, a number of patients with large deletions of …
The identification of the primary defect in autosomal dominant polycystic kidney disease (ADPKD) by biochemical …
Autosomal dominant polycystic kidney disease: clues to pathogenesis.
Harris PC. Harris PC. Hum Mol Genet. 1999;8(10):1861-6. doi: 10.1093/hmg/8.10.1861. Hum Mol Genet. 1999. PMID: 10469838 Review.
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutation of one of two genes: PKD1 (16p13.3) or PKD2 (4q13-23). ...Recently, two further polycystin-like molecules have been identified, indicating roles for this novel protein family be …
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutation of one of two genes: PKD1 (16p13.3) o …
Genetic basis of intracranial aneurysm formation and rupture: clinical implications in the postgenomic era.
Samuel N, Radovanovic I. Samuel N, et al. Neurosurg Focus. 2019 Jul 1;47(1):E10. doi: 10.3171/2019.4.FOCUS19204. Neurosurg Focus. 2019. PMID: 31261114 Review.
In addition, polymorphisms in eNOS/NOS3 (7q36) may serve as predictive markers for outcomes following intracranial aneurysm rupture. ...
In addition, polymorphisms in eNOS/NOS3 (7q36) may serve as predictive markers for outcomes following intracranial aneurysm rupture. …
Exome sequencing of Saudi Arabian patients with ADPKD.
Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK. Al-Muhanna FA, et al. Ren Fail. 2019 Nov;41(1):842-849. doi: 10.1080/0886022X.2019.1655453. Ren Fail. 2019. PMID: 31488014 Free PMC article.
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. ...Conclusions: Mutations in PKD1 and PKD2 are the most common cause of ADP …
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of …
Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
Back SJ, Andronikou S, Kilborn T, Kaplan BS, Darge K. Back SJ, et al. Pediatr Radiol. 2015 Mar;45(3):386-95. doi: 10.1007/s00247-014-3147-1. Epub 2014 Oct 30. Pediatr Radiol. 2015. PMID: 25355409
BACKGROUND: Genes for tuberous sclerosis complex (TSC) type 2 and autosomal-dominant polycystic kidney disease (ADPKD) type 1 are both encoded over a short segment of chromosome 16. ...OBJECTIVE: To describe the clinical and imaging findi …
BACKGROUND: Genes for tuberous sclerosis complex (TSC) type 2 and autosomal-dominant polycystic kidney …
Large deletions in the polycystic kidney disease 1 (PKD1) gene.
Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, Ravine D, Breuning MH, Peters DJ. Ariyurek Y, et al. Hum Mutat. 2004 Jan;23(1):99. doi: 10.1002/humu.9208. Hum Mutat. 2004. PMID: 14695542
Since identification of the genes mutated in patients with Autosomal Dominant Polycystic Kidney Disease, PKD1 and PKD2, a large number of different germ line mutations in both genes have been found by conventional PCR-based mutation detection methods. …
Since identification of the genes mutated in patients with Autosomal Dominant Polycystic Kidney Disease, PKD1 an …
Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor.
Siroky BJ, Towbin AJ, Trout AT, Schäfer H, Thamann AR, Agricola KD, Tudor C, Capal J, Dixon BP, Krueger DA, Franz DN. Siroky BJ, et al. J Pediatr. 2017 Aug;187:318-322.e2. doi: 10.1016/j.jpeds.2017.05.015. Epub 2017 Jun 7. J Pediatr. 2017. PMID: 28600153
Renal cysts occur in approximately 50% of patients with tuberous sclerosis complex, but their clinical significance and response to treatment are unknown. Abdominal imaging of 15 patients with tuberous sclerosis complex-associated renal cystic disease …
Renal cysts occur in approximately 50% of patients with tuberous sclerosis complex, but their clinical significance and respon …
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.
Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP, Dumars K, Roach ES, Steingold S, Wall S, et al. Kandt RS, et al. Nat Genet. 1992 Sep;2(1):37-41. doi: 10.1038/ng0992-37. Nat Genet. 1992. PMID: 1303246
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous body systems including skin, brain and kidneys. ...One marker examined was D16S283, the closest locus on the proximal side of the polycysti …
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of unknown aetiology that affects numerous bo …
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