Research Categories: Research publications
Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review
[Smith-Kingsmore syndrome caused by MTOR gene variation: 2 cases and literature review]. Lei HH, Liu LL, Wang XL, Tie XC, Tian N, Ji Y, Yang Y. Zhonghua Er Ke Za...
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys)
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, Yigit...
A new case of Smith-Kingsmore syndrome with somatic MTOR
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth. Carli D, Ferrero GB, Fusillo A, Coppo P, La Selva R, Zinali...
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue. Szczałuba K, Rydzanicz M, Walczak...
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P,...
Sleep and Circadian Disturbances in Children With Neurodevelopmental Disorders
Sleep and Circadian Disturbances in Children With Neurodevelopmental Disorders. Tamir S, Dye TJ, Witt RM. Semin Pediatr Neurol. 2023 Dec;48:101090. doi: 10.1016/j.spen.2023.101090. Epub 2023 Oct 4.PMID: 38065637
Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome.
Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome. Elizondo-Plazas A, Ibarra-Ramírez M, Garza-Báez A, Martínez-de-Villarreal LE. Neurol Genet. 2020 May 7;6(3):e432. doi: 10.1212/NXG.0000000000000432. eCollection 2020 Jun. PMID: 32494756
mTOR mutations in Smith-Kingsmore syndrome
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de...
Delineating the Smith-Kingsmore syndrome phenotype
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. Poole RL, Curry PDK, Marcinkute R, Brewer C, Coman D, Hobson E, Johnson D,...
Functional and structural analyses
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. Besterman AD, Althoff T, Elfferich P, Gutierrez-Mejia I, Sadik J, Bernstein JA,...
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