Associated Papers
Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.
Hida T et al.
Cancer Medicine, 2024
39564955 (PubMed )
Supplement: CAM4-13-e70360-s002.xlsx › Sheet1
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
Liu AC et al.
Hgg Advances, 2024
39030910 (PubMed )
Supplement: mmc5.pdf
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Simonelli V et al.
Clinical Neurophysiology Practice, 2024
38495955 (PubMed )
Supplement: mmc1.docx
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL et al.
American Journal of Medical Genetics. Part A, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD et al.
Plos Genetics, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Gordo G et al.
Clinical Genetics, 2018
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