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Quoted phrase not found in phrase index: "Joubert syndrome 26"
Page 1
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.
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as …
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrosp …
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
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involved the liver (41.7%, n=25), central nervous system (26.7%, n=16), eyes (26.7%, n=16) and skeletal system (11.7%, n=7). Acciden …
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involv …
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depr …
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous g …
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. ...To conclud …
Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syn …
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert …
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'mo …
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309
Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal respiratory dysregulation. ...Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, w …
Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardat …
Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
Blair IP, Gibson RR, Bennett CL, Chance PF. Blair IP, et al. Am J Med Genet. 2002 Jan 22;107(3):190-6. Am J Med Genet. 2002. PMID: 11807898
Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome involving agenesis or dysgenesis of the cerebellar vermis with accompanying brainstem malformations. ...Consequently, we undertook mutation analysis of several functional candidate genes, EN1, …
Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome involving agenesis or dysgenesis of the cerebellar v …
Abnormal vertical optokinetic nystagmus in infants and children.
Garbutt S, Harris CM. Garbutt S, et al. Br J Ophthalmol. 2000 May;84(5):451-5. doi: 10.1136/bjo.84.5.451. Br J Ophthalmol. 2000. PMID: 10781506 Free PMC article.
Gross abnormalities in the response were detected simply by observation. RESULTS: VOKN was tested in 144 children using this OKN projection system. 26 of these children had abnormal VOKN; 13 had a vertical saccade initiation failure "ocular motor apraxia" (in either …
Gross abnormalities in the response were detected simply by observation. RESULTS: VOKN was tested in 144 children using this OKN proj …