Northrup H - Search Results

1

Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele.

Au KS, Northrup H, Kirkpatrick TJ, Volcik KA, Fletcher JM, Townsend IT, Blanton SH, Tyerman GH, Villarreal G, King TM. Au KS, et al. Among authors: northrup h. Am J Med Genet A. 2005 Dec 15;139(3):194-8. doi: 10.1002/ajmg.a.31002. Am J Med Genet A. 2005. PMID: 16283668 Free PMC article.

2

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.

3

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.

4

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.

5

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

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

Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission.

McKenney RR, Elder FF, Garcia J, Northrup H. McKenney RR, et al. Among authors: northrup h. Am J Med Genet. 1996 Dec 30;66(4):449-52. doi: 10.1002/(SICI)1096-8628(19961230)66:4<449::AID-AJMG13>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8989466

8

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

9

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.

10

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.

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