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Quoted phrase not found in phrase index: "Familial aplasia of the vermis"
Page 1
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.
These examples highlight how an accurate description of the range of clinical symptoms associated with defects in each causative gene, including the rare ones, would better address prognosis and help guiding a personalized management. This review proposes to address this i …
These examples highlight how an accurate description of the range of clinical symptoms associated with defects in each causative gene, inclu …
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome.
Meoded A, Kukreja M, Orman G, Boltshauser E, Huisman TAGM. Meoded A, et al. Neuropediatrics. 2022 Jun;53(3):195-199. doi: 10.1055/s-0041-1732310. Epub 2021 Oct 21. Neuropediatrics. 2022. PMID: 34674207
A band-like formation coursing in an apparent axial plane anterior to the interpeduncular fossa was noted and appeared to partially cover the interpeduncular fossa.DTI maps and three-dimensional (3D) tractography demonstrated a prominent red-encoded white matter bundle anterior t …
A band-like formation coursing in an apparent axial plane anterior to the interpeduncular fossa was noted and appeared to partially cover th …
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.
Fei H, Wu Y, Wang Y, Zhang J. Fei H, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1877. doi: 10.1002/mgg3.1877. Epub 2022 Jan 29. Mol Genet Genomic Med. 2022. PMID: 35092359 Free PMC article.
Furthermore, we performed RNA splicing analysis and revealed that the noncanonical splicing variant (c.7534-14G > A) caused aberrant exon 37 skipping. It produced an aberrant transcript that was predicted to encode a C-terminal truncated protein. CONCLUSIONS: The geneti …
Furthermore, we performed RNA splicing analysis and revealed that the noncanonical splicing variant (c.7534-14G > A) caused aberrant exon …
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
Awareness of this condition will increase the diagnostic yield of JS genetic testing, and allow appropriate counselling about prognosis, medical monitoring and recurrence risk....
Awareness of this condition will increase the diagnostic yield of JS genetic testing, and allow appropriate counselling about prognosis …
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Romaniello R, Gagliardi C, Desalvo P, Provenzi L, Battini R, Bertini E, Bonati MT, Briguglio M, D'Arrigo S, Dotti MT, Giordano L, Macaluso C, Moroni I, Nuovo S, Santucci M, Signorini S, Stanzial F, Valente EM, Borgatti R. Romaniello R, et al. Disabil Rehabil. 2022 Sep;44(18):4966-4973. doi: 10.1080/09638288.2021.1922516. Epub 2021 May 19. Disabil Rehabil. 2022. PMID: 34010585
CONCLUSIONS: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by investing in rehabilitation care models that embed social support programs and policies into clinical interventions.IMPLICATIONS FOR REHABILITATI …
CONCLUSIONS: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by inves …
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.
JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) approach for parallel sequenci …
JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for predictio …
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Fleming LR, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146704 Free PMC article.
Patients with mutations in C5orf42 or KIAA0586 are less likely to develop kidney disease. Prenatal ultrasonography is a poor predictor of kidney involvement in Joubert syndrome. Unilateral multicystic dysplastic kidney and autosomal recessive polycystic kidney disease-like …
Patients with mutations in C5orf42 or KIAA0586 are less likely to develop kidney disease. Prenatal ultrasonography is a poor predictor …
Diagnosis of Joubert syndrome via ultrasonography.
Buke B, Canverenler E, İpek G, Canverenler S, Akkaya H. Buke B, et al. J Med Ultrason (2001). 2017 Apr;44(2):197-202. doi: 10.1007/s10396-016-0751-8. Epub 2016 Oct 26. J Med Ultrason (2001). 2017. PMID: 27785575
Optimal management requires a multidisciplinary approach, with particular attention paid to respiratory problems in neonates. After the first months of life, the prognosis varies among JSRD subgroups, depending on the extent and severity of organ involvement....
Optimal management requires a multidisciplinary approach, with particular attention paid to respiratory problems in neonates. After the firs …
52 results