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Page 1
Aniridia.
Tripathy K, Salini B. Tripathy K, et al. 2023 Aug 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30844160 Free Books & Documents.
Most of the other cases of congenital aniridia are sporadic. Sporadic aniridia may correlate with WAGR syndrome (Wilm tumor, aniridia, genitourinary anomalies, and mental retardation). A minority of congenital …
Most of the other cases of congenital aniridia are sporadic. Sporadic aniridia may correlate with WAGR syndrome …
PAX6-Related Aniridia.
Moosajee M, Hingorani M, Moore AT. Moosajee M, et al. 2003 May 20 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 May 20 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301534 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. ...WAGR syndrome. The risk f …
CLINICAL CHARACTERISTICS: PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tum …
WAGR syndrome.
Shimamura Y, Okamoto T, Abe K, Takuto M, Ogawa Y, Takizawa H. Shimamura Y, et al. Kidney Int. 2021 Jan;99(1):271. doi: 10.1016/j.kint.2020.05.017. Kidney Int. 2021. PMID: 33390234 No abstract available.
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome.
Dahan K, Kamal M, Noël LH, Jeanpierre C, Gubler MC, Brousse N, Mariaud de Serre NP. Dahan K, et al. Am J Kidney Dis. 2007 Jun;49(6):793-800. doi: 10.1053/j.ajkd.2007.02.275. Am J Kidney Dis. 2007. PMID: 17533022
BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a genetic disorder caused by a deletion of band 11p13, which results in the loss of 1 allele of the Wilms …
BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR …
Visual Acuity in Aniridia and WAGR Syndrome.
Krause MA, Trout KL, Lauderdale JD, Netland PA. Krause MA, et al. Clin Ophthalmol. 2023 May 1;17:1255-1261. doi: 10.2147/OPTH.S405003. eCollection 2023. Clin Ophthalmol. 2023. PMID: 37152637 Free PMC article.
In the better-seeing eye, mean LogMAR values were 0.780.15 in aniridia subjects and 1.400.88 in WAGR syndrome subjects (P=0.001). The mean LogMAR values for the better-seeing eye corresponded to Snellen visual acuity of 20/125 in aniridia subjects and …
In the better-seeing eye, mean LogMAR values were 0.780.15 in aniridia subjects and 1.400.88 in WAGR syndrome subjects …
LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.
Yi T, Weng J, Siwko S, Luo J, Li D, Liu M. Yi T, et al. J Biol Chem. 2014 Mar 28;289(13):8767-80. doi: 10.1074/jbc.M113.530816. Epub 2014 Feb 11. J Biol Chem. 2014. PMID: 24519938 Free PMC article.
AGR syndrome (the clinical triad of aniridia, genitourinary anomalies, and mental retardation, a subgroup of WAGR syndrome for Wilm's tumor, aniridia, genitourinary anomalies, and mental …
AGR syndrome (the clinical triad of aniridia, genitourinary anomalies, and mental retardation, a s …
Wilms' tumor management.
Wu HY, Snyder HM 3rd, D'Angio GJ. Wu HY, et al. Curr Opin Urol. 2005 Jul;15(4):273-6. doi: 10.1097/01.mou.0000172403.69890.eb. Curr Opin Urol. 2005. PMID: 15928519 Review.
A longer course of chemotherapy (including doxorubicin) for clear cell sarcoma improves recurrence-free survival. Patients with Wilms' tumor, aniridia, major genitourinary malformations, and mental retardation, the WAGR syndrome …
A longer course of chemotherapy (including doxorubicin) for clear cell sarcoma improves recurrence-free survival. Patients with Wilms …
[Congenital aniridia in children].
Bremond-Gignac D. Bremond-Gignac D. Rev Prat. 2019 Jan;69(1):67-70. Rev Prat. 2019. PMID: 30983291 Review. French.
Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). ...It can also be associated with other systemic disorders then constituting a syndromic aniridia. These different syndromes a …
Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular dis …
WAGR syndrome: a clinical review of 54 cases.
Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. Fischbach BV, et al. Pediatrics. 2005 Oct;116(4):984-8. doi: 10.1542/peds.2004-0467. Pediatrics. 2005. PMID: 16199712 Review.
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is clinically associated with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). ...Recommendat …
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is clinically associated with Wil …
NGF and BDNF in pediatrics syndromes.
Ferraguti G, Terracina S, Micangeli G, Lucarelli M, Tarani L, Ceccanti M, Spaziani M, D'Orazi V, Petrella C, Fiore M. Ferraguti G, et al. Neurosci Biobehav Rev. 2023 Feb;145:105015. doi: 10.1016/j.neubiorev.2022.105015. Epub 2022 Dec 21. Neurosci Biobehav Rev. 2023. PMID: 36563920 Review.
A variety of diseases has been analyzed and many have been linked to NTs neurobiological effects, including chronic granulomatous disease, hereditary sensory and autonomic neuropathy, Duchenne muscular dystrophy, Bardet-Biedl syndrome, Angelman syndrome, fragile X …
A variety of diseases has been analyzed and many have been linked to NTs neurobiological effects, including chronic granulomatous disease, h …
267 results