Poh-Fitzpatrick M - Search Results

1

Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano AM. Frank J, et al. J Med Genet. 1998 Mar;35(3):244-7. doi: 10.1136/jmg.35.3.244. J Med Genet. 1998. PMID: 9541112 Free PMC article.

2

Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.

Lam H, Dragan L, Tsou HC, Merk H, Peacocke M, Goerz G, Sassa S, Poh-Fitzpatrick M, Bickers DR, Christiano AM. Lam H, et al. Hum Genet. 1997 Jan;99(1):126-9. doi: 10.1007/s004390050325. Hum Genet. 1997. PMID: 9003509

3

The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

Frank J, Poh-Fitzpatrick MB, King LE Jr, Christiano AM. Frank J, et al. Arch Dermatol Res. 1998 Aug;290(8):441-5. doi: 10.1007/s004030050333. Arch Dermatol Res. 1998. PMID: 9763307

4

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Frank J, Wang X, Lam HM, Aita VM, Jugert FK, Goerz G, Merk HF, Poh-Fitzpatrick MB, Christiano AM. Frank J, et al. Ann Hum Genet. 1998 May;62(Pt 3):225-30. doi: 10.1046/j.1469-1809.1998.6230225.x. Ann Hum Genet. 1998. PMID: 9803266

5

Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.

Frank J, McGrath JA, Poh-Fitzpatrick MB, Hawk JL, Christiano AM. Frank J, et al. Among authors: poh fitzpatrick mb. Clin Exp Dermatol. 1999 Jul;24(4):296-301. doi: 10.1046/j.1365-2230.1999.00484.x. Clin Exp Dermatol. 1999. PMID: 10457135

6

Erythropoietic protoporphyria: four novel frameshift mutations in the ferrochelatase gene.

Wang X, Piomelli S, Peacocke M, Christiano AM, Poh-Fitzpatrick MB. Wang X, et al. J Invest Dermatol. 1997 Nov;109(5):688-91. doi: 10.1111/1523-1747.ep12338217. J Invest Dermatol. 1997. PMID: 9347801 Free article.

7

Erythropoietic protoporphyria: identification of novel mutations in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies.

Frank J, Nelson J, Wang X, Yang L, Ahmad W, Lam H, Jugert FK, Kalka K, Poh-Fitzpatrick MB, Goerz G, Merk HF, Christiano AM. Frank J, et al. Among authors: poh fitzpatrick mb. J Investig Med. 1999 Jul;47(6):278-84. J Investig Med. 1999. PMID: 10431482

8

A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.

Frank J, Jugert FK, Merk HF, Kalka K, Goerz G, Anderson K, Bickers DR, Poh-Fitzpatrick MB, Christiano AM. Frank J, et al. Among authors: poh fitzpatrick mb. J Invest Dermatol. 2001 May;116(5):821-3. doi: 10.1046/j.1523-1747.2001.01308.x. J Invest Dermatol. 2001. PMID: 11348478 Free article. No abstract available.

9

Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.

Warner CA, Poh-Fitzpatrick MB, Zaider EF, Tsai SF, Desnick RJ. Warner CA, et al. Arch Dermatol. 1992 Sep;128(9):1243-8. doi: 10.1001/archderm.128.9.1243. Arch Dermatol. 1992. PMID: 1519940

10

Congenital erythropoietic porphyria: clinical, biochemical, and enzymatic profile of a severely affected infant.

Huang JL, Zaider E, Roth P, Garcia O, Pollack S, Poh-Fitzpatrick MB. Huang JL, et al. J Am Acad Dermatol. 1996 May;34(5 Pt 2):924-7. doi: 10.1016/s0190-9622(96)90081-x. J Am Acad Dermatol. 1996. PMID: 8621830 Free article.

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