27 results

... a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who originally presented with ... NPH-RC), the prevalence of renal disease varies. Joubert syndrome (JS). Classic JS is characterized by three primary ...

... of a PAX gene expressed in the eye Joubert syndrome and related disorders (JSRD) >30 genes AR 5 ... al [2001] 4. Azuma et al [2003] 5. Joubert syndrome is inherited predominantly in an autosomal recessive manner. ...

... pathogenic variants have been reported in individuals with Joubert syndrome and congenital ocular motor apraxia [ Serpieri et al ... neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. J Med Genet. 2022;59:888-94. [ ...

... syndromic forms of PKD (e.g., Meckel syndrome, Joubert syndrome ), with ciliopathy phenotypes in other organs, are involved ...

... 17326746 ] 2421. Singhi P, Mahajan V, Hiremath GM. Joubert syndrome: Review and report of five cases from India. ...

... L. H., Kamel, H., El-Bashir, H. O., Joubert syndrome labeled as hypotonic cerebral palsy, Neurosciences, 19, 233- ...

... CHD7 Disorder Distinguishing from CHD7 Disorder ≥34 genes Joubert syndrome AR XL Digenic Bilateral chorioretinal coloboma, interstitial fibrosis ...

... Wong F, Blendis L. New challenge of hepatorenal syndrome: Prevention and treatment. Hepatology. 2001; 34 (6):1242–1251. [ PubMed : 11732014 ] 783. Wong F, Pappas SC, Boyer T, Sanyal AJ, Jamil K. Systemic inflammatory response syndrome (SIRS) is a major determinant of treatment response ...

... 2014;32:300-6. [ PubMed : 25252769 ] Jury J, Joubert M, Le Vaillant C, Ghesh L, Seguela PE, Bruel AL, Cogne B, Nizon M. Prenatal diagnosis of Myhre syndrome in two cases: further delineation of the cardiac ...