Vitale E - Search Results

1

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

Kleyn PW, Wang CH, Lien LL, Vitale E, Pan J, Ross BM, Grunn A, Palmer DA, Warburton D, Brzustowicz LM, et al. Kleyn PW, et al. Among authors: vitale e. Proc Natl Acad Sci U S A. 1993 Jul 15;90(14):6801-5. doi: 10.1073/pnas.90.14.6801. Proc Natl Acad Sci U S A. 1993. PMID: 8341701 Free PMC article.

2

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

Wang CH, Kleyn PW, Vitale E, Ross BM, Lien L, Xu J, Carter TA, Brzustowicz LM, Obici S, Selig S, et al. Wang CH, et al. Among authors: vitale e. Am J Hum Genet. 1995 Jan;56(1):202-9. Am J Hum Genet. 1995. PMID: 7825579 Free PMC article.

3

Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.

Brzustowicz LM, Wang CH, Matseoane D, Kleyn PW, Vitale E, Das K, Penchaszadeh GK, Munsat TL, Hausmanowa-Petrusewicz I, Gilliam TC. Brzustowicz LM, et al. Among authors: vitale e. Am J Hum Genet. 1995 Jan;56(1):210-5. Am J Hum Genet. 1995. PMID: 7825580 Free PMC article.

4

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

Petrukhin K, Fischer SG, Pirastu M, Tanzi RE, Chernov I, Devoto M, Brzustowicz LM, Cayanis E, Vitale E, Russo JJ, et al. Petrukhin K, et al. Among authors: vitale e. Nat Genet. 1993 Dec;5(4):338-43. doi: 10.1038/ng1293-338. Nat Genet. 1993. PMID: 8298640

5

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene.

Selig S, Bruno S, Scharf JM, Wang CH, Vitale E, Gilliam TC, Kunkel LM. Selig S, et al. Among authors: vitale e. Proc Natl Acad Sci U S A. 1995 Apr 25;92(9):3702-6. doi: 10.1073/pnas.92.9.3702. Proc Natl Acad Sci U S A. 1995. PMID: 7731968 Free PMC article.

6

Genomic cloning and characterization of the human thrombin receptor gene. Structural similarity to the proteinase activated receptor-2 gene.

Schmidt VA, Vitale E, Bahou WF. Schmidt VA, et al. Among authors: vitale e. J Biol Chem. 1996 Apr 19;271(16):9307-12. J Biol Chem. 1996. PMID: 8621593 Free article.

7

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. Lee B, et al. Among authors: vitale e. Nature. 1991 Jul 25;352(6333):330-4. doi: 10.1038/352330a0. Nature. 1991. PMID: 1852206

8

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Horton WA, Machado MA, Ellard J, Campbell D, Bartley J, Ramirez F, Vitale E, Lee B. Horton WA, et al. Among authors: vitale e. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4583-7. doi: 10.1073/pnas.89.10.4583. Proc Natl Acad Sci U S A. 1992. PMID: 1374906 Free PMC article.

9

A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9.

Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner HP, Vitale E. Leal SM, et al. Among authors: vitale e. Eur J Hum Genet. 1998 Jul-Aug;6(4):341-4. doi: 10.1038/sj.ejhg.5200201. Eur J Hum Genet. 1998. PMID: 9781041 Free PMC article.

10

Homogeneity of cystic fibrosis in Italy.

Vitale E, Devoto M, Mastella G, Romeo G. Vitale E, et al. Am J Hum Genet. 1986 Dec;39(6):832-6. Am J Hum Genet. 1986. PMID: 3467589 Free PMC article.

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