Carpenter NJ - Search Results

1

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

Carpenter NJ, Leichtman LG, Stamper S, Say B. Carpenter NJ, et al. J Med Genet. 1981 Jun;18(3):234-6. doi: 10.1136/jmg.18.3.234. J Med Genet. 1981. PMID: 7241549 Free PMC article.

2

Report of a case resembling the Proteus syndrome with a chromosome abnormality.

Say B, Carpenter NJ. Say B, et al. Among authors: carpenter nj. Am J Med Genet. 1988 Dec;31(4):987-9. doi: 10.1002/ajmg.1320310434. Am J Med Genet. 1988. PMID: 3239588 No abstract available.

3

A homozygote for pericentric inversion of chromosome 4.

Carpenter NJ, Say B, Barber ND. Carpenter NJ, et al. J Med Genet. 1982 Dec;19(6):469-71. doi: 10.1136/jmg.19.6.469. J Med Genet. 1982. PMID: 6185681 Free PMC article.

4

Partial deletion 21: case report with biochemical studies and review.

Carpenter NJ, Mayes JS, Say B, Wilson DP. Carpenter NJ, et al. J Med Genet. 1987 Nov;24(11):706-9. doi: 10.1136/jmg.24.11.706. J Med Genet. 1987. PMID: 3430548 Free PMC article.

5

Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+).

Say B, Carpenter NJ, Giacoia G, Jegathesan S. Say B, et al. Among authors: carpenter nj. J Med Genet. 1980 Dec;17(6):477-8. doi: 10.1136/jmg.17.6.477. J Med Genet. 1980. PMID: 7205432 Free PMC article.

6

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

Carpenter NJ, Say B, Browning D. Carpenter NJ, et al. J Med Genet. 1980 Jun;17(3):216-21. doi: 10.1136/jmg.17.3.216. J Med Genet. 1980. PMID: 7401133 Free PMC article.

7

Partial trisomy 13q identified by sequential fluorescence in situ hybridization.

Rao VV, Carpenter NJ, Gucsavas M, Coldwell J, Say B. Rao VV, et al. Among authors: carpenter nj. Am J Med Genet. 1995 Jul 31;58(1):50-3. doi: 10.1002/ajmg.1320580111. Am J Med Genet. 1995. PMID: 7573156

8

Pulmonary agenesis: importance of detailed cytogenetic studies.

Say B, Carpenter NJ. Say B, et al. Among authors: carpenter nj. Am J Med Genet. 1998 Apr 13;76(5):446. Am J Med Genet. 1998. PMID: 9556306 No abstract available.

9

Down syndrome due to 21;21 translocation in a male twin.

Balfour B, Say B, Geffen WA, Morgan DG, Carpenter NJ, Munshi G. Balfour B, et al. Among authors: carpenter nj. Clin Genet. 1979 Dec;16(6):383-6. doi: 10.1111/j.1399-0004.1979.tb01345.x. Clin Genet. 1979. PMID: 160848

10

An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.

Say B, Hommes FA, Malik SA, Carpenter NJ. Say B, et al. Among authors: carpenter nj. J Med Genet. 1992 Jun;29(6):423-4. doi: 10.1136/jmg.29.6.423. J Med Genet. 1992. PMID: 1619639 Free PMC article.

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