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Page 1
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V. Munye MM, et al. Among authors: bacchelli c. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28301481 Free PMC article.
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Goodman FR, et al. Among authors: bacchelli c. Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839976 Free PMC article.
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, Labrune P, Casteels I, Hall C, Cox P, Kelly DA, Trembath RC, Scambler PJ, Maher ER, Goodman FR, Johnson CA. Morgan NV, et al. Among authors: bacchelli c. J Med Genet. 2003 Jun;40(6):431-5. doi: 10.1136/jmg.40.6.431. J Med Genet. 2003. PMID: 12807964 Free PMC article.
Characterisation and validation of insertions and deletions in 173 patient exomes.
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E. Lescai F, et al. Among authors: bacchelli c. PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14. PLoS One. 2012. PMID: 23251486 Free PMC article.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT. Webb EA, et al. Among authors: bacchelli c. Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10. Brain. 2013. PMID: 24022475 Free PMC article.
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM; UK10K; Mitchison HM. Onoufriadis A, et al. Among authors: bacchelli c. J Med Genet. 2014 Jan;51(1):61-7. doi: 10.1136/jmedgenet-2013-101938. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203976 Free PMC article.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P. Thomas AC, et al. Among authors: bacchelli c. Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439728 Free PMC article.
64 results