Pubblicazioni
1. A.MARTINUZZI, L.VERGANI, R CARROZZO, M.FANIN, L.BARTOLONI, C.ANGELINI, V.ASKANAS, W.K.ENGEL: "Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency" J.Clin.Invest. 1993, 92:1774-1780. |
2. J.MILASIN, F.MUNTONI, G.M.SEVERINI, L.BARTOLONI, M.VATTA, M.KRAJINOVIC, A.MATEDDU, C.ANGELINI, F.CAMERINI, A.FALASCHI, L.MESTRONI, M.GIACCA, B. PINAMONTI, G. SINAGRA, A. DILENARDA, F. SILVESTRI, R. BUSSANI, M. DAVANZO: "A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy" Hum.Mol.Gen. 1996, 5(1): 73-79. |
3. A.MARTINUZZI, S.TSUJINO, L.VERGANI, G.SCHIEVANO, M.CADALDINI, L.BARTOLONI, M.FANIN, G.SICILIANO, S.SHANSKE, S.DIMAURO, C.ANGELINI:"Molecular characterization of myophosphorylase deficency in a group of patients from northern Italy" J.Neurol.Sci 1996, 137: 14-19. |
4. MC SPEER, JM GILCHRIST, JM STAJICH, PC GASKELL, CA WESTBROOK, SK HORRIGAN, L BARTOLONI, LH YAMAOKA, WK SCOTT, MA PERICAK-VANCE: "Evidence for anticipation in autosomal dominant Limb-girdle Muscular Dystrophy" J. Med. Genet. 1998, 35(4):305-308. |
5. MC SPEER, Vance JM, Lennon-Graham F, Stajich JM, Viles KD, Gilchrist JM, Nigro V, McMichael R, Chutkow JG, Bartoloni L, Horrigan SK, Westbrook CA, Pericak-Vance MA: "Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families." Hum Hered 1998, 48(4):179-184. |
6. L Bartoloni , SK Horrigan, KD Viles, JM Gilchrist, JM Stajich, JM Vance, LH Yamaoka, MA Pericak-Vance, CA Westbrook, MC Speer: Use of a CEPH Meiotic Breakpoint Panel to Refine the Locus of Limb-Girdle Muscular Dystrophy Type 1A (LGMD1A) to a 2 Mb Interval on 5q31. Genomics 1998, 54(2):250-255. |
7. Horrigan SK, Bartoloni L, Speer MC, Fulton N, Kravarusic J, Ramesar R, Vance JM, Yamaoka LH, Westbrook CA: A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. Genomics 1999 Apr 1;57(1):24-35. |
8. Bartoloni L, Blouin JLC, Sainsbury AJ, Gos A, Morris MA, Affara NA, DeLozier-Blanchet CD, Antonarakis SE: Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping. Cytogenet Cell Genet 1999 Vol. 84, No. 3–4:188-9. |
9. Blouin J-L, Meeks M, Radhakrishna U, Sainsbury AJ, Gehrig C, Duriaux Sail G, Bartoloni L, , Dombi V, o'rawe A, walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, Van MaldergEm L, Walt H, Gardiner RM, PROBST D, Guerne P-A, Delozier-Blanchet CD, Antonarakis SE. Primary Ciliary Dyskinesia: A genome-wide linkage analysis reveals extensive locus heterogeneity. Eur J Hum Genet 2000, 8:109-118. |
10. Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000, 9(14):2141-2147. |
11. A.K. Maiti*, L. Bartoloni*, H. Mitchison*, M. Meeks, E. Chung, S.Spiden, C. Gehrig, C. Rossier, C.D. DeLozier-Blanchet, J-L Blouin, R.M. Gardiner, MD, S.E. Antonarakis: No deleterious mutations were found in the HFH4 gene in patients with Primary Ciliary Dyskinesia (*hanno contribuito in modo uguale). Cytogenet Cell Genet 2000, Vol. 90, No. 1- 2:119-122. |
12. L. Bartoloni, M.Wattenhofer, J. Kudoh, A. Berry, K. Shibuya, K. Kawasaki, J. Wang, S. Asakawa, I. Talior, B. Bonne-Tamir, C. Rossier, J. Michaud, E. R. B. McCabe, S. Minoshima, N. Shimizu, H. S. Scott, S. E. Antonarakis: Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in 2 candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Genomics 2000 Dec 1;70(2):190-200. |
13. L. Bartoloni, J-L. Blouin; A Maiti, A. Sainsbury, C Rossier , C. Gehrig, J-X. She, M. P. Marron, E. Lander, M.Meeks, E.Chung, M. ARMENGOT, M. Jorissen, H.S. Scott, C.D. Delozier Blanchet, M. Gardiner, S. E. Antonarakis: Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure and investigation of its role in Primary Ciliary Dyskinesia. Genomics 2001, 72(1):21-33. |
14. Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A 2002, 99(16):10282-6 |
15. Ferlin A, Simonato M, Bartoloni L, Rizzo g, Bettella a, Dottorini T, Dallapiccola b, Foresta c. The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. J Clin Endocrinol Metab. 2003. 88(9):4273-9. |
16. Tessari a, Salata e, Ferlin a, Bartoloni l, M.L. Slongo, Foresta c. Characterisation of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis. Mol Hum Reprod . 2004 10(4):253-8. |
17. Ferlin A, Bartoloni L, Rizzo G, Roverato A, Garolla A, Foresta C.. Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod. 2004, 10(6):417-21 |
18. Bartoloni L, Cazzadore C, Ferlin a, Garolla A, Foresta C. Lack of the T54A polymorphism of the DAZL gene in infertile italian patients. Mol Hum Reprod. 2004, 10(8):613-5 |
19. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab. 2005 Jan;90(1):152-6. Epub 2004 Oct 27 |
20. Ferlin A, Garolla A, Bettella A, Bartoloni L, Vinanzi C, Roverato A, Foresta C. Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism. Eur J Endocrinol. 2005 Mar;152(3):419-25. |
21. N.Hornef, H.Olbrich, J.Horvath, MA. Zariwala, M.Fliegauf, NT Loges, J Wildhaber, PG. Noone, M Kennedy, SE. Antonarakis, JL Blouin, L Bartoloni, T Nüßlein, P Ahrens, M Griese, HKuhl, R Sudbrak, MR Knowles, R Reinhardt, H Omran DNAH5 mutations are a common cause of Primary Ciliary Dyskinesia with outer dynein arm defects. Am. J. Respir. Crit. Care Med. 2006, 174:120-126. |
22. Gallinaro L, Sartorello F, Pontara E, Cattini MG, Bertomoro A, Bartoloni L, Pagnan A, Casonato A. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease. Thromb Haemost. 2006 Dec;96(6):711-6. |
23. S. Beiraghi, S.K. Nath, M. Gaines, D.D. Mandhyan, D. Hutchings, U. Ratnamala, K. McElreavey, L. Bartoloni, G.S. Antonarakis, S.E. Antonarakis, U Radhakrishna Autosomal dominant non-syndromic cleft lip and palate: Significant evidence for linkage at 18q21.1. Am J Hum Genet. 2007 Jul;81(1):180-8. |
24. Schwabe G, K Hoffmann, NT Loges, D Birker, C Rossier, MM. de Santi, H Olbrich, M Fliegauf, M Failly, U Liebers, M Collura, G Gaedicke, S Mundlos, U Wahn, JL Blouin, B Niggemann, H Omran, SE. Antonarakis, L Bartoloni Primary Ciliary Dyskinesia with normal axoneme ultrastructure caused by DNAH11 mutations, Hum Mutat. 2008 Feb;29(2):289-98. |
25. Failly M, Saitta A, Munoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, Delozier-Blanchet CD, Bartoloni L, Blouin JL. DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia. Respiration 76:198-204 , 2008. |
26. M. Failly, A. Letourneau, A. Munoz, E. Falconnet, C. Rossier, L.Bartoloni, C. D. DeLozier-Blanchet, R. Lazor, J.-L. Blouin. Mutations in DNAH5 account to only 15% in a non preselected cohort of patients with Primary Ciliary Dyskinesia. Accepted for publication (decision received 11 sept 2008), J Med Genet. |
