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203 results

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Page 1
Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D'Abrusco F, Battini R, Romaniello R, D'Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*. Gafner M, et al. Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175354 Free article.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group. Brancati F, et al. Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924. Hum Mutat. 2009. PMID: 19058225 Free PMC article.
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Poretti A, et al. Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. Orphanet J Rare Dis. 2012. PMID: 22236771 Free PMC article.
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
Battini R, D'Arrigo S, Cassandrini D, Guzzetta A, Fiorillo C, Pantaleoni C, Romano A, Alfei E, Cioni G, Santorelli FM. Battini R, et al. J Child Neurol. 2014 Apr;29(4):520-5. doi: 10.1177/0883073812470002. Epub 2013 Jan 9. J Child Neurol. 2014. PMID: 23307886
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Roosing S, et al. Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602. Elife. 2015. PMID: 26026149 Free PMC article.
Cognitive, adaptive, and behavioral features in Joubert syndrome.
Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F, Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D. Bulgheroni S, et al. Am J Med Genet A. 2016 Dec;170(12):3115-3124. doi: 10.1002/ajmg.a.37938. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27530364
203 results