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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 1, 2023. (Total: 221588Documents)
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Records 1 - 12 (of 12 Records)

Query Trace: Intellectual Disability and TSC2[original query]
An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
Journal of paediatrics and child health 2011 Oct 47 (10): 711-6.
Chopra Maya, Lawson John A, Wilson Meredith, Kennedy Sean E, Taylor Peter, Buckley Michael F, Wargon Orli, Parasivam Gayathri, Camphausen Christoph, Yates Deborah, Mowat Dav
Severity of manifestations in tuberous sclerosis complex in relation to genotype.
Epilepsia 2014 Jul 55 (7): 1025-9.
Kothare Sanjeev V, Singh Kanwaljit, Chalifoux Jason R, Staley Brigid A, Weiner Howard L, Menzer Kimberly, Devinsky Orr
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
Orphanet journal of rare diseases 2015 10 154.
Vignoli Aglaia, La Briola Francesca, Peron Angela, Turner Katherine, Vannicola Chiara, Saccani Monica, Magnaghi Elisabetta, Scornavacca Giulia Federica, Canevini Maria Pao
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
Orphanet journal of rare diseases 2018 9 13 (1): 157.
de Vries Petrus J, Belousova Elena, Benedik Mirjana P, Carter Tom, Cottin Vincent, Curatolo Paolo, Dahlin Maria, D'Amato Lisa, d'Augères Guillaume B, Ferreira José C, Feucht Martha, Fladrowski Carla, Hertzberg Christoph, Jozwiak Sergiusz, Kingswood J Chris, Lawson John A, Macaya Alfons, Marques Ruben, Nabbout Rima, O'Callaghan Finbar, Qin Jiong, Sander Valentin, Sauter Matthias, Shah Seema, Takahashi Yukitoshi, Touraine Renaud, Youroukos Sotiris, Zonnenberg Bernard, Jansen Anna C,
Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.
Pediatric neurology 2019 Mar .
Farach Laura S, Pearson Deborah A, Woodhouse John P, Schraw Jeremy M, Sahin Mustafa, Krueger Darcy A, Wu Joyce Y, Bebin Elizabeth M, Lupo Philip J, Au Kit Sing, Northrup Hope,
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.
Frontiers in neurology 2020 8 11 603.
de Vries Petrus J, Belousova Elena, Benedik Mirjana P, Carter Tom, Cottin Vincent, Curatolo Paolo, Dahlin Maria, D'Amato Lisa, Beaure d'Augères Guillaume, Ferreira José C, Feucht Martha, Fladrowski Carla, Hertzberg Christoph, Jozwiak Sergiusz, Lawson John A, Macaya Alfons, Marques Ruben, Nabbout Rima, O'Callaghan Finbar, Qin Jiong, Sander Valentin, Sauter Matthias, Shah Seema, Takahashi Yukitoshi, Touraine Renaud, Youroukos Sotiris, Zonnenberg Bernard, Kingswood John C, Jansen Anna C,
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.
Pediatric neurology 2020 3 106 10-16.
Gupta Ajay, de Bruyn Gwendolyn, Tousseyn Simon, Krishnan Balu, Lagae Lieven, Agarwal Nitin,
High genetic burden in 163 Chinese children with status epilepticus.
Seizure 2020 12 84 40-46.
Wang Tianqi, Wang Ji, Ma Yu, Zhou Hao, Ding Ding, Li Chunpei, Du Xiaonan, Jiang Yong-Hui, Wang Yi, Long Shasha, Li Shuang, Lu Guoping, Chen Weiming, Zhou Yuanfeng, Zhou Shuizhen, Wang
The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex.
Pediatric neurology 2021 8 123 43-49.
Sidira Christina, Vargiami Efthymia, Anastasiou Athanasia, Talimtzi Persefoni, Kyriazi Maria, Dragoumi Pinelopi, Spanou Maria, Ntinopoulos Argirios, Dalpa Efterpi, Evangeliou Athanasios, Zafeiriou Dimitrios
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
American journal of medical genetics. Part A 2021 5 185 (8): 2345-2355.
Moirangthem Amita, Mandal Kausik, Saxena Deepti, Srivastava Priyanka, Gambhir Poonam Singh, Agrawal Neha, Shambhavi Arya, Nampoothiri Sheela, Phadke Shubha
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort.
Child neurology open 2021 5 8 2329048X211012817.
Alsowat Daad, Whitney Robyn, Hewson Stacy, Jain Puneet, Chan Valerie, Kabir Nadia, Amburgey Kimberly, Noone Damien, Lemaire Mathieu, McCoy Blathnaid, Zak Mar
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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