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Page 1
Ciliopathies.
Hildebrandt F, Benzing T, Katsanis N. Hildebrandt F, et al. N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. N Engl J Med. 2011. PMID: 21506742 Free PMC article. Review.
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet-Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies - …
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the …
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 …
A variety of diseases has been analyzed and many have been linked to NTs neurobiological effects, including chronic granulomatous disease, h …
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV. Florea L, et al. Genes (Basel). 2021 Aug 29;12(9):1353. doi: 10.3390/genes12091353. Genes (Basel). 2021. PMID: 34573333 Free PMC article. Review.
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. ...This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in Bardet-Biedl …
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inhe …
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.
This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, and liver, defining a group of conditions termed Joubert syndrome and related disorders (JSRDs), that share the MTS. To date, 16 causative genes have been identifie …
This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys, and liver, defining a group of conditi …
[Current status and implication of research on Bardet-Biedl syndrome].
Shen T, Yan XM, Xiao CJ. Shen T, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):570-3. doi: 10.3760/cma.j.issn.1003-9406.2013.05.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 24078572 Review. Chinese.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s. ...BBS patients are also prone to diabetes mellitus, hypertension and congenital heart disease. To date, 16 BBS genes ( …
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl …
Alstrom syndrome. Report of 22 cases and literature review.
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Russell-Eggitt IM, et al. Ophthalmology. 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. Ophthalmology. 1998. PMID: 9663233 Review.
The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. Their aim is to clarify the AS phenotype and to increase awareness of the early features. ...Initially, a diagnosis of cone-rod dystrophy, achr …
The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. The …
Experience of a single center with congenital hepatic fibrosis: a review of the literature.
Shorbagi A, Bayraktar Y. Shorbagi A, et al. World J Gastroenterol. 2010 Feb 14;16(6):683-90. doi: 10.3748/wjg.v16.i6.683. World J Gastroenterol. 2010. PMID: 20135715 Free PMC article. Review.
With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF. Presentation with Caroli syndrome was the most common diagnosis, with all such patients presenting with symptom …
With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 wit …