Northrup H - Search Results

1

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.

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

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

Multilocus linkage analysis with the human argininosuccinate synthetase gene.

Northrup H, Lathrop M, Lu SY, Daiger SP, Beaudet AL, O'Brien WE. Northrup H, et al. Genomics. 1989 Oct;5(3):442-4. doi: 10.1016/0888-7543(89)90007-4. Genomics. 1989. PMID: 2575581

7

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

8

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.

9

Evaluation of candidate genes for familial brachydactyly.

Mastrobattista JM, Dollé P, Blanton SH, Northrup H. Mastrobattista JM, et al. Among authors: northrup h. J Med Genet. 1995 Nov;32(11):851-4. doi: 10.1136/jmg.32.11.851. J Med Genet. 1995. PMID: 8592325 Free PMC article.

10

Cobblestone lissencephaly with normal eyes and muscle.

Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Dobyns WB, et al. Among authors: northrup h. Neuropediatrics. 1996 Apr;27(2):70-5. doi: 10.1055/s-2007-973752. Neuropediatrics. 1996. PMID: 8737821

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