Grompe M - Search Results

1

Fanconi anemia cells have a normal gene structure for topoisomerase I.

Saito H, Grompe M, Neeley TL, Jakobs PM, Moses RE. Saito H, et al. Among authors: grompe m. Hum Genet. 1994 May;93(5):583-6. doi: 10.1007/BF00202828. Hum Genet. 1994. PMID: 8168839

2

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Basler E, et al. Among authors: grompe m. Am J Hum Genet. 1992 Mar;50(3):483-91. Am J Hum Genet. 1992. PMID: 1539590 Free PMC article.

3

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.

Kilimann MW, Pizzuti A, Grompe M, Caskey CT. Kilimann MW, et al. Among authors: grompe m. Hum Genet. 1992 May;89(3):253-8. doi: 10.1007/BF00220535. Hum Genet. 1992. PMID: 1601417

4

Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Grompe M, Caskey CT, Fenwick RG. Grompe M, et al. Am J Hum Genet. 1991 Feb;48(2):212-22. Am J Hum Genet. 1991. PMID: 1671317 Free PMC article.

5

Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p.

Whitney M, Thayer M, Reifsteck C, Olson S, Smith L, Jakobs PM, Leach R, Naylor S, Joenje H, Grompe M. Whitney M, et al. Among authors: grompe m. Nat Genet. 1995 Nov;11(3):341-3. doi: 10.1038/ng1195-341. Nat Genet. 1995. PMID: 7581463

6

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM. Grompe M, et al. N Engl J Med. 1994 Aug 11;331(6):353-7. doi: 10.1056/NEJM199408113310603. N Engl J Med. 1994. PMID: 8028615 Free article.

7

The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.

Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M. Whitney MA, et al. Among authors: grompe m. Hum Mutat. 1994;3(4):339-41. doi: 10.1002/humu.1380030402. Hum Mutat. 1994. PMID: 8081385

8

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

Grompe M, al-Dhalimy M. Grompe M, et al. Hum Mutat. 1993;2(2):85-93. doi: 10.1002/humu.1380020205. Hum Mutat. 1993. PMID: 8318997

9

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M. Whitney MA, et al. Among authors: grompe m. Nat Genet. 1993 Jun;4(2):202-5. doi: 10.1038/ng0693-202. Nat Genet. 1993. PMID: 8348157

10

Cloning and characterization of a human cDNA (INPPL1) sharing homology with inositol polyphosphate phosphatases.

Hejna JA, Saito H, Merkens LS, Tittle TV, Jakobs PM, Whitney MA, Grompe M, Friedberg AS, Moses RE. Hejna JA, et al. Among authors: grompe m. Genomics. 1995 Sep 1;29(1):285-7. doi: 10.1006/geno.1995.1247. Genomics. 1995. PMID: 8530088

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