Parano E - Search Results

1

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC. Carter TA, et al. Among authors: parano e. Hum Mol Genet. 1997 Feb;6(2):229-36. doi: 10.1093/hmg/6.2.229. Hum Mol Genet. 1997. PMID: 9063743

2

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K. Shah AB, et al. Among authors: parano e. Am J Hum Genet. 1997 Aug;61(2):317-28. doi: 10.1086/514864. Am J Hum Genet. 1997. PMID: 9311736 Free PMC article.

3

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

Banerjee P, Kleyn PW, Knowles JA, Lewis CA, Ross BM, Parano E, Kovats SG, Lee JJ, Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC. Banerjee P, et al. Among authors: parano e. Nat Genet. 1998 Feb;18(2):177-9. doi: 10.1038/ng0298-177. Nat Genet. 1998. PMID: 9462751

4

A genomewide screen for autism susceptibility loci.

Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Ott J, Gilliam TC; Autism Genetic Resource Exchange Consortium. Liu J, et al. Among authors: parano e. Am J Hum Genet. 2001 Aug;69(2):327-40. doi: 10.1086/321980. Epub 2001 Jul 10. Am J Hum Genet. 2001. PMID: 11452361 Free PMC article.

5

Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy.

Parano E, Pavone L, Falsaperla R, Trifiletti R, Wang C. Parano E, et al. Ann Neurol. 1996 Aug;40(2):247-51. doi: 10.1002/ana.410400219. Ann Neurol. 1996. PMID: 8773609

6

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al. Tanzi RE, et al. Among authors: parano e. Nat Genet. 1993 Dec;5(4):344-50. doi: 10.1038/ng1293-344. Nat Genet. 1993. PMID: 8298641

7

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Taniguchi K, et al. Among authors: parano e. Hum Mol Genet. 2003 Mar 1;12(5):527-34. doi: 10.1093/hmg/ddg043. Hum Mol Genet. 2003. PMID: 12588800

8

Diabetes insipidus in neurobrucellosis.

Trifiletti RR, Restivo DA, Pavone P, Giuffrida S, Parano E. Trifiletti RR, et al. Among authors: parano e. Clin Neurol Neurosurg. 2000 Sep;102(3):163-5. doi: 10.1016/s0303-8467(00)00089-5. Clin Neurol Neurosurg. 2000. PMID: 10996715 Free article.

9

Epilepsy is not a prominent feature of primary autism.

Pavone P, Incorpora G, Fiumara A, Parano E, Trifiletti RR, Ruggieri M. Pavone P, et al. Among authors: parano e. Neuropediatrics. 2004 Aug;35(4):207-10. doi: 10.1055/s-2004-821079. Neuropediatrics. 2004. PMID: 15328558

10

Congenital muscular dystrophy: correlation of muscle biopsy and clinical features.

Parano E, Fiumara A, Falsperla R, Vita G, Trifiletti RR. Parano E, et al. Pediatr Neurol. 1994 May;10(3):233-6. doi: 10.1016/0887-8994(94)90029-9. Pediatr Neurol. 1994. PMID: 8060426

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