Northrup H - Search Results

1

Tuberous sclerosis complex: disease modifiers and treatments.

Au KS, Ward CH, Northrup H. Au KS, et al. Among authors: northrup h. Curr Opin Pediatr. 2008 Dec;20(6):628-33. doi: 10.1097/MOP.0b013e328318c529. Curr Opin Pediatr. 2008. PMID: 19005330 Review.

2

Tuberous sclerosis complex: genetic aspects.

Northrup H. Northrup H. J Dermatol. 1992 Nov;19(11):914-9. doi: 10.1111/j.1346-8138.1992.tb03805.x. J Dermatol. 1992. PMID: 1293183 Review.

3

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.

Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP, Dumars K, Roach ES, Steingold S, Wall S, et al. Kandt RS, et al. Among authors: northrup h. Nat Genet. 1992 Sep;2(1):37-41. doi: 10.1038/ng0992-37. Nat Genet. 1992. PMID: 1303246 Free article.

4

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E Jr, Daiger SP, Blanton SH. Northrup H, et al. Am J Hum Genet. 1992 Oct;51(4):709-20. Am J Hum Genet. 1992. PMID: 1415216 Free PMC article.

5

Linkage studies for markers on 9q to tuberous sclerosis.

Northrup H, Blanton SH. Northrup H, et al. Ann N Y Acad Sci. 1991;615:384-5. doi: 10.1111/j.1749-6632.1991.tb37790.x. Ann N Y Acad Sci. 1991. PMID: 1674847 No abstract available.

6

COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.

Greenspan DS, Northrup H, Au KS, McAllister KA, Francomano CA, Wenstrup RJ, Marchuk DA, Kwiatkowski DJ. Greenspan DS, et al. Among authors: northrup h. Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d. Genomics. 1995. PMID: 7759113

7

Variability of expression in tuberous sclerosis.

Northrup H, Wheless JW, Bertin TK, Lewis RA. Northrup H, et al. J Med Genet. 1993 Jan;30(1):41-3. doi: 10.1136/jmg.30.1.41. J Med Genet. 1993. PMID: 8423606 Free PMC article.

8

Report of a critical recombination further narrowing the TSC1 region.

Au KS, Murrell J, Buckler A, Blanton SH, Northrup H. Au KS, et al. Among authors: northrup h. J Med Genet. 1996 Jul;33(7):559-61. doi: 10.1136/jmg.33.7.559. J Med Genet. 1996. PMID: 8818940 Free PMC article.

9

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

Au KS, Rodriguez JA, Rodriguez E Jr, Dobyns WB, Delgado MR, Northrup H. Au KS, et al. Among authors: northrup h. Hum Mutat. 1997;9(1):23-9. doi: 10.1002/(SICI)1098-1004(1997)9:1<23::AID-HUMU4>3.0.CO;2-Q. Hum Mutat. 1997. PMID: 8990004

10

Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).

Rodriguez JA, Evans RL, Daiger SP, Northrup H. Rodriguez JA, et al. Among authors: northrup h. J Med Genet. 1997 Jun;34(6):509-11. doi: 10.1136/jmg.34.6.509. J Med Genet. 1997. PMID: 9192275 Free PMC article.

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