Bartoloni L - Search Results

1

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy.

Martinuzzi A, Tsujino S, Vergani L, Schievano G, Cadaldini M, Bartoloni L, Fanin M, Siciliano G, Shanske S, DiMauro S, Angelini C. Martinuzzi A, et al. Among authors: bartoloni l. J Neurol Sci. 1996 Apr;137(1):14-9. doi: 10.1016/0022-510x(95)00298-g. J Neurol Sci. 1996. PMID: 9120482

2

Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.

Martinuzzi A, Vergani L, Carrozzo R, Fanin M, Bartoloni L, Angelini C, Askanas V, Engel WK. Martinuzzi A, et al. Among authors: bartoloni l. J Clin Invest. 1993 Oct;92(4):1774-80. doi: 10.1172/JCI116766. J Clin Invest. 1993. PMID: 8408630 Free PMC article.

3

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.

Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M. Milasin J, et al. Among authors: bartoloni l. Hum Mol Genet. 1996 Jan;5(1):73-9. doi: 10.1093/hmg/5.1.73. Hum Mol Genet. 1996. PMID: 8789442

4

Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.

Gallinaro L, Sartorello F, Pontara E, Cattini MG, Bertomoro A, Bartoloni L, Pagnan A, Casonato A. Gallinaro L, et al. Among authors: bartoloni l. Thromb Haemost. 2006 Dec;96(6):711-6. Thromb Haemost. 2006. PMID: 17139363

5

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.

Radhakrishna U, Ratnamala U, Deutsch S, Bartoloni L, Kuracha MR, Singh R, Banwait J, Bastola DK, Johar K, Nath SK, Antonarakis SE. Radhakrishna U, et al. Among authors: bartoloni l. Eur J Hum Genet. 2012 Oct;20(10):1032-6. doi: 10.1038/ejhg.2012.60. Epub 2012 Apr 11. Eur J Hum Genet. 2012. PMID: 22490987 Free PMC article.

6

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group; Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. Olcese C, et al. Among authors: bartoloni l. Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279. Nat Commun. 2017. PMID: 28176794 Free PMC article.

7

Myotilin is mutated in limb girdle muscular dystrophy 1A.

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. Hauser MA, et al. Among authors: bartoloni l. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653

8

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL. Failly M, et al. Among authors: bartoloni l. J Med Genet. 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176. J Med Genet. 2009. PMID: 19357118

9

Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis.

Tessari A, Salata E, Ferlin A, Bartoloni L, Slongo ML, Foresta C. Tessari A, et al. Among authors: bartoloni l. Mol Hum Reprod. 2004 Apr;10(4):253-8. doi: 10.1093/molehr/gah036. Epub 2004 Feb 16. Mol Hum Reprod. 2004. PMID: 14985478

10

Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients.

Bartoloni L, Cazzadore C, Ferlin A, Garolla A, Foresta C. Bartoloni L, et al. Mol Hum Reprod. 2004 Aug;10(8):613-5. doi: 10.1093/molehr/gah073. Epub 2004 Jun 25. Mol Hum Reprod. 2004. PMID: 15220464

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