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Joubert syndrome: Molecular basis and treatment.
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G. Spahiu L, et al. J Mother Child. 2023 Feb 22;26(1):118-123. doi: 10.34763/jmotherandchild.20222601.d-22-00034. eCollection 2022 Mar 1. J Mother Child. 2023. PMID: 36803942 Free PMC article. Review.
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with later …
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasi …
Genotype-phenotype correlates in Joubert syndrome: A review.
Gana S, Serpieri V, Valente EM. Gana S, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):72-88. doi: 10.1002/ajmg.c.31963. Epub 2022 Mar 3. Am J Med Genet C Semin Med Genet. 2022. PMID: 35238134 Free PMC article. Review.
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign," and variable organ involvement. ...To date, gene-phenotype correlates have been delineated only fo …
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brains …
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal disease (ESRD) in children. Exploring the correlation between the phenotype and genotype of NPHP-RC is helpful for early diagnosis and ma …
BACKGROUND: Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal …
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.
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. ...Differential diagnosis for MKS includes autosomal recessive pol …
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysp …
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y, Miura K, Yabuuchi T, Kaneko N, Ishizuka K, Takei M, Yajima C, Ikeuchi Y, Kobayashi Y, Takizawa T, Hisano M, Tsurusaki Y, Matsumoto N, Hattori M. Takagi Y, et al. Sci Rep. 2021 Jan 11;11(1):462. doi: 10.1038/s41598-020-80712-4. Sci Rep. 2021. PMID: 33432080 Free PMC article.
Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the "molar tooth sign" on axial brain images, hypotonia, and developmental delay. Approximately 25-30% of patients with JS have k …
Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which i …
Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.
Itoh M, Iwasaki Y, Ohno K, Inoue T, Hayashi M, Ito S, Matsuzaka T, Ide S, Arima M. Itoh M, et al. Brain Dev. 2014 May;36(5):388-93. doi: 10.1016/j.braindev.2013.06.005. Epub 2013 Jul 8. Brain Dev. 2014. PMID: 23845172
After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. CONC …
After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Pr …
Prenatal magnetic resonance imaging diagnosis of molar tooth sign at 17 to 18 weeks of gestation in two fetuses at risk for Joubert syndrome and related cerebellar disorders.
Saleem SN, Zaki MS, Soliman NA, Momtaz M. Saleem SN, et al. Neuropediatrics. 2011 Feb;42(1):35-8. doi: 10.1055/s-0031-1275739. Epub 2011 Apr 15. Neuropediatrics. 2011. PMID: 21500139
We report on the prenatal MRI diagnosis of Joubert syndrome and related cerebellar disorders (JSRD) in 2 unrelated fetuses at 17-18 weeks of gestation who were referred to us with history of siblings with JSRD and additional renal affection in the second case …
We report on the prenatal MRI diagnosis of Joubert syndrome and related cerebellar disorders (JSRD) in 2 unrelated fetuses at …