Pergolizzi RG - Search Results

1

Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.

Spence SE, Pergolizzi RG, Donovan-Peluso M, Kosche KA, Dobkin CS, Bank A. Spence SE, et al. Among authors: pergolizzi rg. Nucleic Acids Res. 1982 Feb 25;10(4):1283-94. doi: 10.1093/nar/10.4.1283. Nucleic Acids Res. 1982. PMID: 6280138 Free PMC article.

2

Two cloned beta thalassemia genes are associated with amber mutations at codon 39.

Pergolizzi R, Spritz RA, Spence S, Goossens M, Kan YW, Bank A. Pergolizzi R, et al. Nucleic Acids Res. 1981 Dec 21;9(24):7065-72. doi: 10.1093/nar/9.24.7065. Nucleic Acids Res. 1981. PMID: 6278453 Free PMC article.

3

Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.

Dobkin C, Pergolizzi RG, Bahre P, Bank A. Dobkin C, et al. Among authors: pergolizzi rg. Proc Natl Acad Sci U S A. 1983 Mar;80(5):1184-8. doi: 10.1073/pnas.80.5.1184. Proc Natl Acad Sci U S A. 1983. PMID: 6298782 Free PMC article.

4

The gene defects in the beta-thalassemias.

Bank A, Baird M, Driscoll MC, Pergolizzi RG, Spence SE. Bank A, et al. Among authors: pergolizzi rg. Birth Defects Orig Artic Ser. 1982;18(7):45-50. Birth Defects Orig Artic Ser. 1982. PMID: 7159743 No abstract available.

5

Molecular characterization of a DNA probe, U6.2, located close to the fragile X locus.

Pergolizzi R, Brown WT, Goonewardena P, Bhan R, Dobkin C, Dahl N, Pettersson U. Pergolizzi R, et al. Am J Med Genet. 1991 Feb-Mar;38(2-3):380-3. doi: 10.1002/ajmg.1320380245. Am J Med Genet. 1991. PMID: 1673315

6

Polymerase chain reaction analysis of fragile X mutations.

Erster SH, Brown WT, Goonewardena P, Dobkin CS, Jenkins EC, Pergolizzi RG. Erster SH, et al. Among authors: pergolizzi rg. Hum Genet. 1992 Sep-Oct;90(1-2):55-61. doi: 10.1007/BF00210744. Hum Genet. 1992. PMID: 1427787

7

Primer design in fluorescent DNA sequencing.

De Bellis G, Manoni M, Pergolizzi R, Vezzoni P, Luzzana M. De Bellis G, et al. Nucleic Acids Res. 1990 Aug 25;18(16):4951-2. doi: 10.1093/nar/18.16.4951. Nucleic Acids Res. 1990. PMID: 2395669 Free PMC article. No abstract available.

8

Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28.

Tribioli C, Tamanini F, Patrosso C, Milanesi L, Villa A, Pergolizzi R, Maestrini E, Rivella S, Bione S, Mancini M, et al. Tribioli C, et al. Nucleic Acids Res. 1992 Feb 25;20(4):727-33. doi: 10.1093/nar/20.4.727. Nucleic Acids Res. 1992. PMID: 1542569 Free PMC article.

9

Detection of full fragile X mutation.

Pergolizzi RG, Erster SH, Goonewardena P, Brown WT. Pergolizzi RG, et al. Lancet. 1992 Feb 1;339(8788):271-2. doi: 10.1016/0140-6736(92)91334-5. Lancet. 1992. PMID: 1346284 Free article.

10

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN. Snow K, et al. Among authors: pergolizzi rg. Am J Hum Genet. 1993 Dec;53(6):1217-28. Am J Hum Genet. 1993. PMID: 7902673 Free PMC article.

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