Parano E - Search Results

1

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.

2

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

3

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

4

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

5

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.

6

Metabolic dysfunction in Russell-Silver syndrome.

Cazgan AL, Parano E, Pavone L, De Vivo DC. Cazgan AL, et al. Among authors: parano e. J Inherit Metab Dis. 1994;17(2):244-5. doi: 10.1007/BF00711627. J Inherit Metab Dis. 1994. PMID: 7967482 No abstract available.

7

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

8

Proteus syndrome: report of a case with severe brain impairment and fatal course.

Rizzo R, Pavone L, Sorge G, Parano E, Baraitser M. Rizzo R, et al. Among authors: parano e. J Med Genet. 1990 Jun;27(6):399-402. doi: 10.1136/jmg.27.6.399. J Med Genet. 1990. PMID: 2359106 Free PMC article.

9

A clinical study of childhood spinal muscular atrophy in Sicily: a review of 75 cases.

Parano E, Fiumara A, Falsaperla R, Pavone L. Parano E, et al. Brain Dev. 1994 Mar-Apr;16(2):104-7. doi: 10.1016/0387-7604(94)90043-4. Brain Dev. 1994. PMID: 8048695

10

Perrault syndrome: evidence for progressive nervous system involvement.

Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Fiumara A, et al. Among authors: parano e. Am J Med Genet A. 2004 Jul 30;128A(3):246-9. doi: 10.1002/ajmg.a.20616. Am J Med Genet A. 2004. PMID: 15216544

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