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Quoted phrase not found in phrase index: "Renal dysplasia and retinal aplasia"
Page 1
Nephronophthisis.
Simms RJ, Eley L, Sayer JA. Simms RJ, et al. Eur J Hum Genet. 2009 Apr;17(4):406-16. doi: 10.1038/ejhg.2008.238. Epub 2008 Dec 10. Eur J Hum Genet. 2009. PMID: 19066617 Free PMC article.
NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and related disorders) and Senior-Loken syndrome. Recent molecular genetic advances have allowed identification of several g …
NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and r …
Senior-Loken syndrome and intracranial hypertension.
Tay SA, Vincent AL. Tay SA, et al. Ophthalmic Genet. 2020 Aug;41(4):354-357. doi: 10.1080/13816810.2020.1766086. Epub 2020 May 20. Ophthalmic Genet. 2020. PMID: 32432520
BACKGROUND: Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and retinal degeneration, and belongs to a group of genetically heterogeneous disorders known as the ciliopathies. MATERIALS AND METHODS: Case repo …
BACKGROUND: Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterised by nephronophthisis and ret …
Joubert syndrome and related disorders.
Valente EM, Dallapiccola B, Bertini E. Valente EM, et al. Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Handb Clin Neurol. 2013. PMID: 23622411 Review.
Indeed, JSRD present clinical and genetic overlap with a growing field of disorders due to mutations in ciliary proteins, that are collectively known as "ciliopathies." These include isolated nephronophthisis, Senior-Loken syndrome, Bardet-Biedl syndrome and, …
Indeed, JSRD present clinical and genetic overlap with a growing field of disorders due to mutations in ciliary proteins, that are collectiv …
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. Taiwan J Obstet Gynecol. 2007. PMID: 17389183 Free article. Review.
Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. ...
Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus …
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Differential diagnosis must consider in particular the other ciliopathies (such as nephronophthisis and Senior-Loken syndrome), distinct cerebellar and brainstem congenital defects and disorders with cerebro-oculo-renal manifestations. ...
Differential diagnosis must consider in particular the other ciliopathies (such as nephronophthisis and Senior-Loken syndro …
SENIOR-LOKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Yahalom C, Volovelsky O, Macarov M, Altalbishi A, Alsweiti Y, Schneider N, Hanany M, Khan MI, Cremers FPM, Anteby I, Banin E, Sharon D, Khateb S. Yahalom C, et al. Retina. 2021 Oct 1;41(10):2179-2187. doi: 10.1097/IAE.0000000000003138. Retina. 2021. PMID: 33512896
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Loken syndrome. METHODS: A retrospective study of patients with Senior-Loken syndrome. ...
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior- …
The nephronophthisis complex: clinical and genetic aspects.
Hildebrandt F, Waldherr R, Kutt R, Brandis M. Hildebrandt F, et al. Clin Investig. 1992 Sep;70(9):802-8. doi: 10.1007/BF00180751. Clin Investig. 1992. PMID: 1450635 Review.
An association of NPH with retinitis pigmentosa is known as the Senior-Loken syndrome (SLS). Hepatic fibrosis, skeletal defects, and central nervous system abnormalities have been described in association with NPH but are typically absent in MCD. ...
An association of NPH with retinitis pigmentosa is known as the Senior-Loken syndrome (SLS). Hepatic fibrosis, skeletal …
Familial juvenile nephronophthisis.
Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C. Konrad M, et al. J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222. J Mol Med (Berl). 1998. PMID: 9587065 Review.
Associations with extrarenal symptoms have been reported, mainly with Leber amaurosis (termed Senior-Loken syndrome). By means of linkage analysis a gene NPH1 for the purely renal form of NPH has been localized to chromosome 2. Genetic heterogeneity has been …
Associations with extrarenal symptoms have been reported, mainly with Leber amaurosis (termed Senior-Loken syndrome). B …
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 …
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J. Surl D, et al. Mol Vis. 2020 Feb 24;26:26-35. eCollection 2020. Mol Vis. 2020. PMID: 32165824 Free PMC article.
Copy number variations were found in three patients, which accounted for 6% of LCA cases. A possible dual molecular diagnosis (Senior-Loken syndrome along with Leigh syndrome, and Joubert syndrome with transposition of the great arteries) was made in two pati …
Copy number variations were found in three patients, which accounted for 6% of LCA cases. A possible dual molecular diagnosis (Senior …
43 results