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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.
Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT. Diggle CP, et al. Among authors: dallapiccola b. Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22553128
Clinical utility gene card for: Joubert syndrome--update 2013.
Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Valente EM, et al. Among authors: dallapiccola b. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2013.10. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403901 Free PMC article. No abstract available.
Recurrent triploidy of maternal origin.
Brancati F, Mingarelli R, Dallapiccola B. Brancati F, et al. Among authors: dallapiccola b. Eur J Hum Genet. 2003 Dec;11(12):972-4. doi: 10.1038/sj.ejhg.5201076. Eur J Hum Genet. 2003. PMID: 14508508
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Among authors: dallapiccola b. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Clinical utility gene card for: Joubert syndrome.
Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Valente EM, et al. Among authors: dallapiccola b. Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.49. Epub 2011 Mar 30. Eur J Hum Genet. 2011. PMID: 21448235 Free PMC article. No abstract available.
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B. Brancati F, et al. Among authors: dallapiccola b. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. Orphanet J Rare Dis. 2006. PMID: 17163996 Free PMC article. Review.
970 results