Northrup H - Search Results

1

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.

Bassuk AG, Muthuswamy LB, Boland R, Smith TL, Hulstrand AM, Northrup H, Hakeman M, Dierdorff JM, Yung CK, Long A, Brouillette RB, Au KS, Gurnett C, Houston DW, Cornell RA, Manak JR. Bassuk AG, et al. Among authors: northrup h. Hum Mol Genet. 2013 Mar 15;22(6):1097-111. doi: 10.1093/hmg/dds515. Epub 2012 Dec 7. Hum Mol Genet. 2013. PMID: 23223018 Free PMC article.

2

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.

3

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

4

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.

5

Germ-line mosaicism in tuberous sclerosis: how common?

Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H. Rose VM, et al. Among authors: northrup h. Am J Hum Genet. 1999 Apr;64(4):986-92. doi: 10.1086/302322. Am J Hum Genet. 1999. PMID: 10090883 Free PMC article.

6

Complete inactivation of the TSC2 gene leads to formation of hamartomas.

Au KS, Hebert AA, Roach ES, Northrup H. Au KS, et al. Among authors: northrup h. Am J Hum Genet. 1999 Dec;65(6):1790-5. doi: 10.1086/302648. Am J Hum Genet. 1999. PMID: 10577937 Free PMC article. No abstract available.

7

Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics.

Volcik KA, Blanton SH, Tyerman GH, Jong ST, Rott EJ, Page TZ, Romaine NK, Northrup H. Volcik KA, et al. Among authors: northrup h. Am J Med Genet. 2000 Nov 6;95(1):21-7. Am J Med Genet. 2000. PMID: 11074490

8

Testing for genetic associations with the PAX gene family in a spina bifida population.

Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H. Volcik KA, et al. Among authors: northrup h. Am J Med Genet. 2002 Jul 1;110(3):195-202. doi: 10.1002/ajmg.10434. Am J Med Genet. 2002. PMID: 12116225

9

Testing for genetic associations in a spina bifida population: analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects.

Volcik KA, Blanton SH, Kruzel MC, Townsend IT, Tyerman GH, Mier RJ, Northrup H. Volcik KA, et al. Among authors: northrup h. Am J Med Genet. 2002 Jul 1;110(3):203-7. doi: 10.1002/ajmg.10435. Am J Med Genet. 2002. PMID: 12116226

10

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.

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