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1999 2
2013 3
2014 1
2015 1
2019 1
2020 1
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2023 2
2024 0

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9 results

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Page 1
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L. Buers I, et al. Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16. Clin Genet. 2020. PMID: 31497877 Review.
Recently, variants in other genes, including KLHL7, NALCN, MAGEL2 and SCN2A, previously linked to other diseases, have been associated with a CS/CISS-like phenotype. Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of …
Recently, variants in other genes, including KLHL7, NALCN, MAGEL2 and SCN2A, previously linked to other diseases, have been associated with …
Genotype-phenotype associations in Alstrom syndrome: a systematic review and meta-analysis.
Bea-Mascato B, Valverde D. Bea-Mascato B, et al. J Med Genet. 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. J Med Genet. 2023. PMID: 37321834 Free PMC article.
The type of variant associated with ALMS is mostly complete loss-of-function variants (97%) and they are mainly located in exons 8, 10 and 16 of the gene. ...
The type of variant associated with ALMS is mostly complete loss-of-function variants (97%) and they are mainly located in exons 8, 1 …
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Saudubray JM, et al. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.
Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal presentation (tubulopathy) and transient renal failure were observed in 27% of patients. ...Despite these therapeutic measures, the lo …
Chronic neurologic presentation was rare, except in LCHAD deficiency (retinitis pigmentosa and peripheral neuropathy). Renal p …
Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method.
Eden M, Payne K, Combs RM, Hall G, McAllister M, Black GC. Eden M, et al. Br J Ophthalmol. 2013 Aug;97(8):1051-6. doi: 10.1136/bjophthalmol-2012-303020. Epub 2013 Jun 6. Br J Ophthalmol. 2013. PMID: 23743435
BACKGROUND: Technological advances present an opportunity for more people with, or at risk of, developing retinitis pigmentosa (RP) to be offered genetic testing. Valuation of these tests using current evaluative frameworks is problematic since benefits may be deriv …
BACKGROUND: Technological advances present an opportunity for more people with, or at risk of, developing retinitis pigmentosa …
Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.
Saeed OB, Traboulsi EI, Coussa RG. Saeed OB, et al. Eye (Lond). 2023 Feb;37(2):350-355. doi: 10.1038/s41433-022-01954-2. Epub 2022 Jan 29. Eye (Lond). 2023. PMID: 35094030 Free PMC article.
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is the most severe form of retinitis pigmentosa (RP) and accounts for 15-20% of all RP cases. ...There were no observed differences in logMAR VA based on mutation type (p = 0.97) or mutation locat …
BACKGROUND: X-linked retinitis pigmentosa (XLRP) is the most severe form of retinitis pigmentosa (RP) and accoun …
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies …
There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cy …
The role of carbonic anhydrase inhibitors in the management of macular edema.
Wolfensberger TJ. Wolfensberger TJ. Doc Ophthalmol. 1999;97(3-4):387-97. doi: 10.1023/a:1002143802926. Doc Ophthalmol. 1999. PMID: 10896355 Review.
Several clinical studies have suggested that patients with cystoid macular edema due to retinitis pigmentosa and uveitis may react more favorably to CAI treatment than other etiologies such as diabetic maculopathy or macular edema after retinal vein occlusion. ...Th …
Several clinical studies have suggested that patients with cystoid macular edema due to retinitis pigmentosa and uveitis may r …
Therapeutic effect of prolonged treatment with topical dorzolamide for cystoid macular oedema in patients with retinitis pigmentosa.
Ikeda Y, Yoshida N, Notomi S, Murakami Y, Hisatomi T, Enaida H, Ishibashi T. Ikeda Y, et al. Br J Ophthalmol. 2013 Sep;97(9):1187-91. doi: 10.1136/bjophthalmol-2012-303005. Epub 2013 Jun 19. Br J Ophthalmol. 2013. PMID: 23782868
AIM: To evaluate the therapeutic effect of continuous treatment with topical dorzolamide (a carbonic anhydrase inhibitor) for cystoid macular oedema (CME) associated with retinitis pigmentosa (RP). ...In eight of the nine eyes in which CME was almost complete …
AIM: To evaluate the therapeutic effect of continuous treatment with topical dorzolamide (a carbonic anhydrase inhibitor) for cystoid …