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Quoted phrase not found in phrase index: "Joubert syndrome 24"
Page 1
Joubert Syndrome.
Alenizi A, Hundallah K. Alenizi A, et al. Neurosciences (Riyadh). 2019 Jan;24(1):63-65. doi: 10.17712/nsj.2019.1.20190062. Neurosciences (Riyadh). 2019. PMID: 30842404 Free PMC article. No abstract available.
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) …
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib …
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.
Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, Chance PF, Barr M Jr, Nyberg D. Doherty D, et al. Prenat Diagn. 2005 Jun;25(6):442-7. doi: 10.1002/pd.1145. Prenat Diagn. 2005. PMID: 15966043 Review.
OBJECTIVES: To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI. ...CONCLUSIONS: With longitudinal monitoring, it is possible to di …
OBJECTIVES: To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and …
The face of Joubert syndrome: a study of dysmorphology and anthropometry.
Braddock SR, Henley KM, Maria BL. Braddock SR, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3235-42. doi: 10.1002/ajmg.a.32099. Am J Med Genet A. 2007. PMID: 18000967
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia, hypotonia, developmental delay, apnea/hypernea and ophthalmologic abnormalities. ...The purpose of this study was to document the morphologic characteristics of …
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia, hypotonia, development …
Ophthalmological findings in Joubert syndrome.
Sturm V, Leiba H, Menke MN, Valente EM, Poretti A, Landau K, Boltshauser E. Sturm V, et al. Eye (Lond). 2010 Feb;24(2):222-5. doi: 10.1038/eye.2009.116. Epub 2009 May 22. Eye (Lond). 2010. PMID: 19461662
PURPOSE: Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. ...
PURPOSE: Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. ...
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G. Kroes HY, et al. Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920555 Free PMC article.
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. ...
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. ...
Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China.
Ying L, Hui W, FuQian, Nan Z, Yeping J, Lan M. Ying L, et al. BMC Pediatr. 2022 Jul 20;22(1):433. doi: 10.1186/s12887-022-03496-8. BMC Pediatr. 2022. PMID: 35858853 Free PMC article.
BACKGROUND: Joubert Syndrome (JS) is a rare genetic developmental disorder. We are aiming for increasing awareness of this disease especially kidney involvement in children with JS. ...The second most common involvement was renal involvement: end stage kidney diseas …
BACKGROUND: Joubert Syndrome (JS) is a rare genetic developmental disorder. We are aiming for increasing awareness of this dis …
Diagnosis, treatment, and long-term outcomes of fetal hydrocephalus.
Yamasaki M, Nonaka M, Bamba Y, Teramoto C, Ban C, Pooh RK. Yamasaki M, et al. Semin Fetal Neonatal Med. 2012 Dec;17(6):330-5. doi: 10.1016/j.siny.2012.07.004. Epub 2012 Oct 23. Semin Fetal Neonatal Med. 2012. PMID: 23089488
Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, six of holoprosencephaly, three of Dandy-Walker syndrome, one case of Joubert syndrome, 12 of arachnoid cyst, nine of encephalo …
Of 156 cases in total, 37% were diagnosed as isolated ventriculomegaly, 50% as another type of malformation (36 cases of myelomeningocele, s …
Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.
Ruberto G, Parisi V, Bertone C, Signorini S, Antonini M, Valente EM, Manzoni F, Serpieri V, Fausto R, Quaranta L. Ruberto G, et al. Adv Ther. 2020 Sep;37(9):3827-3838. doi: 10.1007/s12325-020-01432-9. Epub 2020 Jul 15. Adv Ther. 2020. PMID: 32671685 Free PMC article.
INTRODUCTION: Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including congenital retinal dystrophy. ...In addition, since clinical trials should be p …
INTRODUCTION: Joubert syndrome (JS) is an autosomal recessive disorder characterized by a congenital malformation of the mid-h …
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R. Zhu T, et al. Am J Ophthalmol. 2023 Apr;248:96-106. doi: 10.1016/j.ajo.2022.11.023. Epub 2022 Dec 7. Am J Ophthalmol. 2023. PMID: 36493848
RESULTS: This study included 37 IRD patients from 32 families and 24 patients with SCP from 22 pedigrees. Four retinal dystrophy phenotypes were confirmed: Leber congenital amaurosis (LCA, 46/61), early-onset severe retinal dystrophy (EOSRD, 4/61), retinitis pigmentosa (RP …
RESULTS: This study included 37 IRD patients from 32 families and 24 patients with SCP from 22 pedigrees. Four retinal dystrophy phen …
21 results