Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Hamartoma and TSC1[original query] |
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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 |
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 |
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 |
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 |
Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 10 41 (3): e363-e365. Bacci Giacomo M, Polizzi Silvio, Mari Francesco, Conti Valerio, Caputo Roberto, Guerrini Ren |
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. Yonsei medical journal 2023 1 64 (2): 133-138. Ryu Soyoung, Kang Hoon-Chul, Lee Sung Chul, Byeon Suk Ho, Kim Sung Soo, Lee Christopher Seungk |
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- Page last updated:Mar 25, 2024
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