Roach ES - Search Results

1

Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association.

Roach ES, DiMario FJ, Kandt RS, Northrup H. Roach ES, et al. J Child Neurol. 1999 Jun;14(6):401-7. doi: 10.1177/088307389901400610. J Child Neurol. 1999. PMID: 10385849 Review.

2

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.

3

Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria.

Roach ES, Gomez MR, Northrup H. Roach ES, et al. J Child Neurol. 1998 Dec;13(12):624-8. doi: 10.1177/088307389801301206. J Child Neurol. 1998. PMID: 9881533 Review.

4

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001. Pediatr Neurol. 2013. PMID: 24053982 Free PMC article.

5

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group. Krueger DA, et al. Pediatr Neurol. 2013 Oct;49(4):255-65. doi: 10.1016/j.pediatrneurol.2013.08.002. Pediatr Neurol. 2013. PMID: 24053983 Free PMC article.

6

Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.

Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJ, Short MP, Dumars K, Roach ES, Steingold S, Wall S, et al. Kandt RS, et al. Among authors: roach es. Nat Genet. 1992 Sep;2(1):37-41. doi: 10.1038/ng0992-37. Nat Genet. 1992. PMID: 1303246 Free article.

7

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. Among authors: roach es. Am J Hum Genet. 1992 Oct;51(4):709-20. Am J Hum Genet. 1992. PMID: 1415216 Free PMC article.

8

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

9

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

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: roach es. Genet Med. 2007 Feb;9(2):88-100. doi: 10.1097/gim.0b013e31803068c7. Genet Med. 2007. PMID: 17304050 Free article.

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