Northrup H - Search Results

1

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Farach LS, Pearson DA, Woodhouse JP, Schraw JM, Sahin M, Krueger DA, Wu JY, Bebin EM, Lupo PJ, Au KS, Northrup H; TACERN Study Group. Farach LS, et al. Among authors: northrup h. Pediatr Neurol. 2019 Jul;96:58-63. doi: 10.1016/j.pediatrneurol.2019.03.003. Epub 2019 Mar 13. Pediatr Neurol. 2019. PMID: 31005478 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

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.

4

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

5

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.

6

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.

7

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

8

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.

9

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

Au KS, Rodriguez JA, Finch JL, Volcik KA, Roach ES, Delgado MR, Rodriguez E Jr, Northrup H. Au KS, et al. Among authors: northrup h. Am J Hum Genet. 1998 Feb;62(2):286-94. doi: 10.1086/301705. Am J Hum Genet. 1998. PMID: 9463313 Free PMC article.

10

On the surgical treatment of refractory epilepsy in tuberous sclerosis complex.

Baumgartner JE, Wheless JW, Kulkarni S, Northrup H, Au KS, Smith A, Brookshire B. Baumgartner JE, et al. Among authors: northrup h. Pediatr Neurosurg. 1997 Dec;27(6):311-8. doi: 10.1159/000121276. Pediatr Neurosurg. 1997. PMID: 9655146

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