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Quoted phrase not found in phrase index: "Renal dysplasia and retinal aplasia"
Page 1
Nephronophthisis.
Salomon R, Saunier S, Niaudet P. Salomon R, et al. Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8. Pediatr Nephrol. 2009. PMID: 18607645 Free PMC article. Review.
In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cy …
In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is o …
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
Wang J, Li S, Jiang Y, Wang Y, Ouyang J, Yi Z, Sun W, Jia X, Xiao X, Wang P, Zhang Q. Wang J, et al. Am J Ophthalmol. 2023 Aug;252:188-204. doi: 10.1016/j.ajo.2023.03.025. Epub 2023 Mar 27. Am J Ophthalmol. 2023. PMID: 36990420
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthisis. ...Cone and rod responses were extinguished in 53 of 55 patients (96.4%). Characteristic fundus changes were observed in CEP290- …
PURPOSE: Senior-Loken syndrome (SLSN) is an autosomal recessive disorder characterized by retinopathy and nephronophthi …
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Chance PF, et al. J Child Neurol. 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. J Child Neurol. 1999. PMID: 10511339 Review.
Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" …
Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associ …
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN). König J, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146700 Free PMC article.
Cross-sectional and longitudinal data were collected. Mean observation time was 7.56.1 years. RESULTS: In total, 51% of the children presented with isolated nephronophthisis, whereas the other 49% exhibited related ciliopathies. ...A homozygous NPHP1 deletion was, by far, …
Cross-sectional and longitudinal data were collected. Mean observation time was 7.56.1 years. RESULTS: In total, 51% of the children …
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Leggatt G, Cheng G, Narain S, Briseño-Roa L, Annereau JP; Genomics England Research Consortium; Gast C, Gilbert RD, Ennis S. Leggatt G, et al. Sci Rep. 2023 Jun 9;13(1):9369. doi: 10.1038/s41598-023-32169-4. Sci Rep. 2023. PMID: 37296294 Free PMC article.
These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Loken syndrome) and neurological (Joubert syndrome) diseases. ...Single nucleotide variants (SNVs) and small insertions and deletions (Indels) have …
These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior-Loken syndr …
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Loken syndrome.
Tong H, Yue Z, Sun L, Chen H, Wang W, Wang H. Tong H, et al. Nephrology (Carlton). 2013 Dec;18(12):838-42. doi: 10.1111/nep.12156. Nephrology (Carlton). 2013. PMID: 24674142
Senior-Loken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Loken syndrome. NPHP5 mutations are known to cause …
Senior-Loken syndrome is a rare syndromic form of nephronophthisis that is associated with retinal dystrophy. Presently …
Potpourri of retinopathies in rare eye disease - A case series.
Pawar N, Manayath GJ, Verghese S, Chandrakanth P, Shah V, Raut A, Gaikwad S, Patil PA, Daswani M, Meenakshi R, Narendran K, Narendran V. Pawar N, et al. Indian J Ophthalmol. 2022 Jul;70(7):2605-2609. doi: 10.4103/ijo.IJO_3002_21. Indian J Ophthalmol. 2022. PMID: 35791168 Free PMC article.
This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case series consists of five patients with varied ophthalmic manifestations and documentation of imaging in rare pediatric and adult retinopathie …
This case series describes the ocular and retinal manifestations of rare eye diseases in systemic syndromes. This observational case …
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.
Fiskerstrand T, Houge G, Sund S, Scheie D, Leh S, Boman H, Knappskog PM. Fiskerstrand T, et al. J Mol Diagn. 2010 Jan;12(1):125-31. doi: 10.2353/jmoldx.2010.090033. Epub 2009 Dec 10. J Mol Diagn. 2010. PMID: 20007846 Free PMC article.
We have investigated a family where two siblings had a developmental disorder associated with polycystic dysplastic kidney disease that was incompatible with postnatal survival. Additional features observed were ductal plate malformation in the liver, dysplasia of the panc …
We have investigated a family where two siblings had a developmental disorder associated with polycystic dysplastic kidney disease that was …
Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.
Wen S, Min X, Zhu Y, Zhou X. Wen S, et al. BMC Pediatr. 2022 May 24;22(1):305. doi: 10.1186/s12887-021-02992-7. BMC Pediatr. 2022. PMID: 35610621 Free PMC article.
CASE PRESENTATION: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (+10.00), severe amblyopia and exotropia, have been genetically diagnosed as Senior-Loken syndrome-5 (SLSN5) and isolated poste …
CASE PRESENTATION: A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (+10.00) …
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F, Lefever S, Leroy BP, De Baere E. Coppieters F, et al. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Hum Mutat. 2010. PMID: 20690115 Review.
One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (relat …
One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenoty …
21 results