Northrup H - Search Results

1

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.

Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, Northrup H. Ruppe MD, et al. Among authors: northrup h. Clin Endocrinol (Oxf). 2011 Mar;74(3):312-8. doi: 10.1111/j.1365-2265.2010.03919.x. Clin Endocrinol (Oxf). 2011. PMID: 21050253 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

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

6

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.

7

Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis.

Astrinidis A, Khare L, Carsillo T, Smolarek T, Au KS, Northrup H, Henske EP. Astrinidis A, et al. Among authors: northrup h. J Med Genet. 2000 Jan;37(1):55-7. doi: 10.1136/jmg.37.1.55. J Med Genet. 2000. PMID: 10633137 Free PMC article.

8

Circadian pattern of blood pressure, heart rate, and double product in liver glycogen storage disease.

Yetman RJ, Andrew-Casal M, Hermida RC, Dominguez BW, Portman RJ, Northrup H, Smolensky MH. Yetman RJ, et al. Among authors: northrup h. Chronobiol Int. 2002 Jul;19(4):765-83. doi: 10.1081/cbi-120006081. Chronobiol Int. 2002. PMID: 12182502

9

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Kozlowski P, et al. Among authors: northrup h. Hum Genet. 2007 May;121(3-4):389-400. doi: 10.1007/s00439-006-0308-9. Epub 2007 Feb 8. Hum Genet. 2007. PMID: 17287951

10

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H. Au KS, et al. Among authors: northrup h. Genet Med. 2007 Feb;9(2):88-100. doi: 10.1097/gim.0b013e31803068c7. Genet Med. 2007. PMID: 17304050 Free article.

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