Smooker PM - Search Results

1

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.

Ikeda H, Matsubara Y, Mikami H, Kure S, Owada M, Gough T, Smooker PM, Dobbs M, Dahl HH, Cotton RG, Narisawa K. Ikeda H, et al. Among authors: smooker pm. Hum Genet. 1997 Oct;100(5-6):637-42. doi: 10.1007/s004390050566. Hum Genet. 1997. PMID: 9341885

2

Molecular basis of dihydropteridine reductase deficiency.

Smooker PM, Cotton RG. Smooker PM, et al. Hum Mutat. 1995;5(4):279-84. doi: 10.1002/humu.1380050402. Hum Mutat. 1995. PMID: 7627180 Review.

3

A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

Smooker PM, Gough TJ, Cotton RG, Alliaudi C, de Sanctis L, Dianzani I. Smooker PM, et al. Hum Mutat. 1999;13(6):503-4. doi: 10.1002/(sici)1098-1004(1999)13:6<503::aid-humu13>3.0.co;2-f. Hum Mutat. 1999. PMID: 10408783

4

A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.

Smooker PM, Christodoulou J, McInnes RR, Cotton RG. Smooker PM, et al. J Med Genet. 1995 Mar;32(3):220-3. doi: 10.1136/jmg.32.3.220. J Med Genet. 1995. PMID: 7783174 Free PMC article.

5

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

Dianzani I, Howells DW, Ponzone A, Saleeba JA, Smooker PM, Cotton RG. Dianzani I, et al. Among authors: smooker pm. J Med Genet. 1993 Jun;30(6):465-9. doi: 10.1136/jmg.30.6.465. J Med Genet. 1993. PMID: 8326489 Free PMC article.

6

Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.

Smooker PM, Howells DW, Cotton RG. Smooker PM, et al. Biochemistry. 1993 Jun 29;32(25):6443-9. doi: 10.1021/bi00076a018. Biochemistry. 1993. PMID: 8518287

7

Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.

Dianzani I, de Sanctis L, Smooker PM, Gough TJ, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang HP, Yang N, Ponzone A, Armarego WL, Cotton RG. Dianzani I, et al. Among authors: smooker pm. Hum Mutat. 1998;12(4):267-73. doi: 10.1002/(SICI)1098-1004(1998)12:4<267::AID-HUMU8>3.0.CO;2-C. Hum Mutat. 1998. PMID: 9744478

8

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.

Blau N, Heizmann CW, Sperl W, Korenke GC, Hoffmann GF, Smooker PM, Cotton RG. Blau N, et al. Among authors: smooker pm. Pediatr Res. 1992 Dec;32(6):726-30. doi: 10.1203/00006450-199212000-00021. Pediatr Res. 1992. PMID: 1283784

9

The use of chemical reagents in the detection of DNA mutations.

Smooker PM, Cotton RG. Smooker PM, et al. Mutat Res. 1993 Jul;288(1):65-77. doi: 10.1016/0027-5107(93)90208-w. Mutat Res. 1993. PMID: 7686267 Review.

10

The spectrum of mutations in dihydropteridine reductase deficiency.

Smooker PM, Howells DW, Dianzani I, Cotton RG. Smooker PM, et al. Adv Exp Med Biol. 1993;338:135-8. doi: 10.1007/978-1-4615-2960-6_27. Adv Exp Med Biol. 1993. PMID: 8304097 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

95 results

Search Page

Filters