Maddalena A - Search Results

1

Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency.

Spence JE, Maddalena A, O'Brien WE, Fernbach SD, Batshaw ML, Leonard CO, Beaudet AL. Spence JE, et al. Among authors: maddalena a. J Pediatr. 1989 Apr;114(4 Pt 1):582-8. doi: 10.1016/s0022-3476(89)80697-3. J Pediatr. 1989. PMID: 2564432 Free article.

2

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Maddalena A, Spence JE, O'Brien WE, Nussbaum RL. Maddalena A, et al. J Clin Invest. 1988 Oct;82(4):1353-8. doi: 10.1172/JCI113738. J Clin Invest. 1988. PMID: 3170748 Free PMC article.

3

Prenatal diagnosis in known fragile X carriers.

Maddalena A, Hicks BD, Spence WC, Levinson G, Howard-Peebles PN. Maddalena A, et al. Am J Med Genet. 1994 Jul 15;51(4):490-6. doi: 10.1002/ajmg.1320510439. Am J Med Genet. 1994. PMID: 7943026

4

Molecular diagnosis of genetic disease.

Maddalena A, Bick DP, Schulman JD. Maddalena A, et al. J Reprod Med. 1992 May;37(5):437-44. J Reprod Med. 1992. PMID: 1507192 Review.

5

Recent experience in prenatal diagnosis of fragile X.

Howard-Peebles PN, Maddalena A. Howard-Peebles PN, et al. Among authors: maddalena a. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):162-6. doi: 10.1002/ajmg.1320430126. Am J Med Genet. 1992. PMID: 1605186

6

Molecular fragile X screening in normal populations.

Spence WC, Black SH, Fallon L, Maddalena A, Cummings E, Menapace-Drew G, Bick DP, Levinson G, Schulman JD, Howard-Peebles PN. Spence WC, et al. Among authors: maddalena a. Am J Med Genet. 1996 Jul 12;64(1):181-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<181::AID-AJMG31>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8826471

7

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL. Maddalena A, et al. N Engl J Med. 1988 Oct 13;319(15):999-1003. doi: 10.1056/NEJM198810133191507. N Engl J Med. 1988. PMID: 2843770 No abstract available.

8

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses.

Sherman SL, Maddalena A, Howard-Peebles PN, Brown WT, Nolin S, Jenkins E, Schwartz C, Tarrelton J, Shapiro LR, Smits AP, et al. Sherman SL, et al. Among authors: maddalena a. Am J Med Genet. 1994 Jul 15;51(4):503-6. doi: 10.1002/ajmg.1320510442. Am J Med Genet. 1994. PMID: 7943029

9

DNA-based prenatal determination of the RhEe genotype.

Spence WC, Potter P, Maddalena A, Demers DB, Bick DP. Spence WC, et al. Among authors: maddalena a. Obstet Gynecol. 1995 Oct;86(4 Pt 2):670-2. doi: 10.1016/0029-7844(95)00093-7. Obstet Gynecol. 1995. PMID: 7675408

10

Prenatal determination of genotypes Kell and Cellano in at-risk pregnancies.

Spence WC, Maddalena A, Demers DB, Bick DP. Spence WC, et al. Among authors: maddalena a. J Reprod Med. 1997 Jun;42(6):353-7. J Reprod Med. 1997. PMID: 9219123

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