HuGE Literature Finder
Records 1-5
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Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.
Ophthalmology 2012 Sep 119 (9): 1917-23. Aronow Mary E, Nakagawa Jo Anne, Gupta Ajay, Traboulsi Elias I, Singh Arun |
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Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes.
Epilepsia 2009 Jun 50 (6): 1396-408. Gumbinger Christoph, Rohsbach Constantin B, Schulze-Bonhage Andreas, Korinthenberg Rudolf, Zentner Josef, Häffner Monika, Fauser Susan |
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Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
Genetics in medicine : official journal of the American College of Medical Genetics 2007 Feb 9 (2): 88-100. Au Kit Sing, Williams Aimee T, Roach E Steve, Batchelor Lori, Sparagana Steven P, Delgado Mauricio R, Wheless James W, Baumgartner James E, Roa Benjamin B, Wilson Carolyn M, Smith-Knuppel Teresa K, Cheung Min-Yuen C, Whittemore Vicky H, King Terri M, Northrup Ho |
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Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.
American journal of human genetics 2002 Oct 71 (4): 750-8. Dabora Sandra L, Roberts Penelope, Nieto Andres, Perez Ron, Jozwiak Sergiusz, Franz David, Bissler John, Thiele Elizabeth A, Sims Katherine, Kwiatkowski David |
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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
American journal of human genetics 2001 Jan 68 (1): 64-80. Dabora S L, Jozwiak S, Franz D N, Roberts P S, Nieto A, Chung J, Choy Y S, Reeve M P, Thiele E, Egelhoff J C, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski D |
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