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Quoted phrase not found in phrase index: "Joubert syndrome 38"
Page 1
Sleep in Children with Congenital Malformations of the Central Nervous System.
Yates JF, Troester MM, Ingram DG. Yates JF, et al. Curr Neurol Neurosci Rep. 2018 May 23;18(7):38. doi: 10.1007/s11910-018-0850-6. Curr Neurol Neurosci Rep. 2018. PMID: 29789951 Review.
RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, …
RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CN …
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Forsyth R, Parisi MA, Altintas B, Malicdan MC, Vilboux T, Knoll J, Brooks BP, Zein WM, Gahl WA, Toro C, Gunay-Aygun M. Forsyth R, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):121-130. doi: 10.1002/ajmg.c.31966. Epub 2022 Mar 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 35312150 Free PMC article.
Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obligatory molar tooth sign on brain imaging. Since hypotonia and developmental delay are nonspecific features, there must be a high level of cl …
Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obli …
Ophthalmic features of Joubert syndrome.
Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, Salih MA. Khan AO, et al. Ophthalmology. 2008 Dec;115(12):2286-9. doi: 10.1016/j.ophtha.2008.08.005. Ophthalmology. 2008. PMID: 19041481
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. ...The objective of the current study is to describe the ophthalmic phenotype in a cohort of patients …
PURPOSE: Joubert syndrome (Online Mendelian Inheritance in Man 213300) is a rare autosomal recessive congenital malformation o …
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.
Shen Y, Lu C, Cheng T, Cao Z, Chen C, Ma X, Gao H, Luo M. Shen Y, et al. BMC Med Genomics. 2023 Jan 12;16(1):4. doi: 10.1186/s12920-023-01438-6. BMC Med Genomics. 2023. PMID: 36635699 Free PMC article.
Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and genetically heterogeneous group of autosomal recessive neurological disorders. ...CONCLUSIONS: This finding of a compound heterozygote with a 1 …
Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), which is a clinically and gen …
Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways' Function.
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. 2021 Jan;38(1):278-289. doi: 10.1007/s12325-020-01534-4. Epub 2020 Oct 24. Adv Ther. 2021. PMID: 33098555 Free PMC article.
INTRODUCTION: Joubert syndrome (JS) is a recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including optic nerve morphologic abnormalities. ...
INTRODUCTION: Joubert syndrome (JS) is a recessive disorder characterized by a congenital malformation of the mid-hindbrain an …
Joubert syndrome.
Solomon R, Jana AK, Singh S, Biswas A. Solomon R, et al. Indian Pediatr. 2001 Sep;38(9):1045-9. Indian Pediatr. 2001. PMID: 11568384 No abstract available.
Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome.
Pugash D, Oh T, Godwin K, Robinson AJ, Byrne A, Van Allen MI, Osiovich H. Pugash D, et al. Ultrasound Obstet Gynecol. 2011 Nov;38(5):598-602. doi: 10.1002/uog.8979. Ultrasound Obstet Gynecol. 2011. PMID: 21370303 Free article.
The characteristic imaging finding common to Joubert syndrome and related disorders is the 'molar tooth' sign. The prenatal diagnosis of Joubert syndrome using both ultrasound and fetal magnetic resonance imaging (MRI) in families with an affected chil …
The characteristic imaging finding common to Joubert syndrome and related disorders is the 'molar tooth' sign. The prenatal di …
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J. Redin C, et al. J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7. J Med Genet. 2012. PMID: 22773737 Free PMC article.
It shares phenotypic traits with other ciliopathies, such as Alstrom syndrome (ALMS), nephronophthisis (NPHP) or Joubert syndrome. BBS mutations have been detected in 16 different genes (BBS1-BBS16) without clear genotype-to-phenotype correlation. ...METHOD: We test …
It shares phenotypic traits with other ciliopathies, such as Alstrom syndrome (ALMS), nephronophthisis (NPHP) or Joubert syndrome …
High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses.
Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D. Bozhinovski G, et al. Balkan Med J. 2024 Mar 1;41(2):97-104. doi: 10.4274/balkanmedj.galenos.2024.2023-10-72. Epub 2024 Feb 14. Balkan Med J. 2024. PMID: 38351681 Free PMC article.
In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of CPLANE1-related Joubert syndrome (JS) in three EPLs from two couples and identified a relatively common CPLANE1 allele among our population (NM_001384732.1:c.181 …
In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of CPLANE1-related Joubert s …
12 results