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Page 1
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. Among authors: romaniello r. Elife. 2015 May 30;4:e06602. doi: 10.7554/eLife.06602. Elife. 2015. PMID: 26026149 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. Among authors: romaniello r. 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.
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.
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM. Ferraris A, et al. Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75. Orphanet J Rare Dis. 2013. PMID: 23679990 Free PMC article.
106 results