Vnencak-Jones C - Search Results

1

Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.

Summar ML, Dasouki MJ, Schofield PJ, Krishnamani MR, Vnencak-Jones C, Tuchman M, Mao J, Phillips JA 3rd. Summar ML, et al. Cytogenet Cell Genet. 1995;71(3):266-7. doi: 10.1159/000134124. Cytogenet Cell Genet. 1995. PMID: 7587391

2

Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.

Tuchman M, Mauer SM, Holzknecht RA, Summar ML, Vnencak-Jones CL. Tuchman M, et al. J Inherit Metab Dis. 1992;15(2):269-77. doi: 10.1007/BF01799641. J Inherit Metab Dis. 1992. PMID: 1356172

3

Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study.

Raskin S, Philips JA 3rd, Krishnamani MR, Vnencak-Jones C, Parker RA, Dawson E, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Culpi L. Raskin S, et al. Hum Biol. 1997 Feb;69(1):75-88. Hum Biol. 1997. PMID: 9037896

4

Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.

Raskin S, Phillips JA 3rd, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Culpi L. Raskin S, et al. Hum Biol. 1997 Aug;69(4):499-508. Hum Biol. 1997. PMID: 9198309

5

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats.

Vnencak-Jones CL, Phillips JA 3rd. Vnencak-Jones CL, et al. Science. 1990 Dec 21;250(4988):1745-8. doi: 10.1126/science.1980158. Science. 1990. PMID: 1980158

6

Genetics of growth hormone and its disorders.

Phillips JA 3rd, Vnencak-Jones CL. Phillips JA 3rd, et al. Adv Hum Genet. 1989;18:305-63. doi: 10.1007/978-1-4613-0785-3_5. Adv Hum Genet. 1989. PMID: 2567109 Review. No abstract available.

7

Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.

Raskin S, Phillips JA 3rd, Kaplan G, McClure M, Vnencak-Jones C. Raskin S, et al. PCR Methods Appl. 1992 Nov;2(2):154-6. doi: 10.1101/gr.2.2.154. PCR Methods Appl. 1992. PMID: 1362128 Free article.

8

Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis.

Raskin S, Phillips JA 3rd, Vnencak-Jones C, Dawson E, Kaplan G, McClure M. Raskin S, et al. Biotechniques. 1992 Sep;13(3):372-4. Biotechniques. 1992. PMID: 1382468

9

DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards.

Raskin S, Phillips JA 3rd, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, et al. Raskin S, et al. Am J Med Genet. 1993 Jul 1;46(6):665-9. doi: 10.1002/ajmg.1320460612. Am J Med Genet. 1993. PMID: 8362909

10

Use of polymerase chain reaction in detection of growth hormone gene deletions.

Vnencak-Jones CL, Phillips JA 3rd, Wang DF. Vnencak-Jones CL, et al. J Clin Endocrinol Metab. 1990 Jun;70(6):1550-3. doi: 10.1210/jcem-70-6-1550. J Clin Endocrinol Metab. 1990. PMID: 2347891

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