Au KS - Search Results

1

Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.

Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, Bebin EM, Wu JY, Krueger D, Sahin M; Tuberous Sclerosis Complex Autism Center of Excellence Research Network. Davis PE, et al. Among authors: au ks. Pediatrics. 2017 Dec;140(6):e20164040. doi: 10.1542/peds.2016-4040. Epub 2017 Nov 3. Pediatrics. 2017. PMID: 29101226 Free PMC article.

2

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: au ks. Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d. Genomics. 1995. PMID: 7759113

3

Report of a critical recombination further narrowing the TSC1 region.

Au KS, Murrell J, Buckler A, Blanton SH, Northrup H. Au KS, et al. 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.

4

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. 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

5

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. Am J Hum Genet. 1998 Feb;62(2):286-94. doi: 10.1086/301705. Am J Hum Genet. 1998. PMID: 9463313 Free PMC article.

6

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: au ks. Pediatr Neurosurg. 1997 Dec;27(6):311-8. doi: 10.1159/000121276. Pediatr Neurosurg. 1997. PMID: 9655146

7

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: au ks. Am J Hum Genet. 1999 Apr;64(4):986-92. doi: 10.1086/302322. Am J Hum Genet. 1999. PMID: 10090883 Free PMC article.

8

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

Au KS, Hebert AA, Roach ES, Northrup H. Au KS, et al. 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.

9

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: au ks. 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.

10

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex.

Khare L, Strizheva GD, Bailey JN, Au KS, Northrup H, Smith M, Smalley SL, Henske EP. Khare L, et al. Among authors: au ks. J Med Genet. 2001 May;38(5):347-9. doi: 10.1136/jmg.38.5.347. J Med Genet. 2001. PMID: 11403047 Free PMC article. No abstract available.

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