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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 26, 2023. (Total: 221463Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Angiofibroma and TSC2[original query]
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
[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].
Zhonghua er ke za zhi. Chinese journal of pediatrics 2003 Mar 41 (3): 223-6.
Feng Jian-hua, Ding Mei-ping, Yang Cui-w
Tuberous Sclerosis Complex in 29 Children: Clinical and Genetic Analysis and Facial Angiofibroma Responses to Topical Sirolimus.
Pediatric dermatology 2017 8 34 (5): 572-577.
Wang Senfen, Liu Yuanxiang, Wei Jinghai, Zhang Jian, Wang Zhaoyang, Xu Ziga
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
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
European journal of medical genetics 2022 8 65 (10): 104573.
Ng Samuel Yl, Luk Ho-Ming, Hau Edgar Wl, Cheng Shirley Sw, Yu Kris Pt, Ho Stephanie, Mok Myth Ts, Lo Ivan
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