Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Cysts and TSC2[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 |
| Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 3 22 (3): 419-426. Papadopoulou Anna, Dinopoulos Argyrios, Koutsodontis George, Pons Roser, Vorgia Pelagia, Koute Vasiliki, Vratimos Athanassios, Zafeiriou Dimitri |
| Exome sequencing of Saudi Arabian patients with ADPKD. Renal failure 2019 9 41 (1): 842-849. Al-Muhanna Fahad A, Al-Rubaish Abdullah M, Vatte Chittibabu, Mohiuddin Shamim Shaikh, Cyrus Cyril, Ahmad Arafat, Shakil Akhtar Mohammed, Albezra Mohammad Ahmad, Alali Rudaynah A, Almuhanna Afnan F, Huang Kai, Wang Lusheng, Al-Kuwaiti Feras, Elsalamouni Tamer S Ahmed, Al Hwiesh Abdullah, Huang Xiaoyan, Keating Brendan, Li Jiankang, Lanktree Matthew B, Al-Ali Amein |
| Acquired Cystic Kidney Disease-associated Renal Cell Carcinoma (ACKD-RCC) Harbor Recurrent Mutations in KMT2C and TSC2 Genes. The American journal of surgical pathology 2020 7 44 (11): 1479-1486. Shah Abhishek, Lal Priti, Toorens Erik, Palmer Matthew B, Schwartz Lauren, Vergara Norge, Guzzo Thomas, Nayak Anup |
| TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genetics in medicine : official journal of the American College of Medical Genetics 2020 5 22 (9): 1489-1497. Ogórek Barbara, Hamieh Lana, Hulshof Hanna M, Lasseter Kathryn, Klonowska Katarzyna, Kuijf Hugo, Moavero Romina, Hertzberg Christoph, Weschke Bernhard, Riney Kate, Feucht Martha, Scholl Theresa, Krsek Pavel, Nabbout Rima, Jansen Anna C, Benova Barbora, Aronica Eleonora, Lagae Lieven, Curatolo Paolo, Borkowska Julita, Sadowski Krzysztof, Doma?ska-Pakie?a Dorota, Janson Stef, Kozlowski Piotr, Urbanska Malgorzata, Jaworski Jacek, Jozwiak Sergiusz, Jansen Floor E, Kotulska Katarzyna, , Kwiatkowski David |
| Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Annals of the American Thoracic Society 2020 Nov . Tian Xinlun, Glass Jennifer E, Kwiatkowski David J, Towbin Alexander J, Li Yinan, Sund Kristen L, Krueger Darcy A, Franz David N, McCormack Francis X, Gupta Nisha |
| Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. Human genome variation 2022 2 9 (1): 5. Muto Yoshinari, Sasaki Hitomi, Sumitomo Makoto, Inagaki Hidehito, Kato Maki, Kato Takema, Miyai Shunsuke, Kurahashi Hiroki, Shiroki Ryoic |
| Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea. Diagnostics (Basel, Switzerland) 2023 6 13 (12): . Hye Jung Park, Yong Jun Choi, Chul Hwan Park, Tae Hoon Kim, Sung Soo Lee, Duk Hwan Moon, Kyung-A Lee, Sang Eun Lee, Moo Suk Park, Song Yee Kim, Yoon Soo Chang, Seok Jeong Lee, Ji Ye Jung, Ji-Ho Lee, Su Hwan Lee, Taehee Kim, Sung-Ryeol Kim, Kangjoon Kim, Min Kwang By |
- Page last reviewed:Oct 1, 2023
- Page last updated:Nov 28, 2023
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