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Page 1
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ. Klonowska K, et al. Among authors: hamieh l. Am J Hum Genet. 2023 Jun 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002. Epub 2023 May 3. Am J Hum Genet. 2023. PMID: 37141891 Free PMC article.
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN. Treichel AM, et al. Among authors: hamieh l. Genet Med. 2019 Nov;21(11):2594-2604. doi: 10.1038/s41436-019-0520-3. Epub 2019 May 22. Genet Med. 2019. PMID: 31114024 Free PMC article.
Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.
Nathan N, Tyburczy ME, Hamieh L, Wang JA, Brown GT, Richard Lee CC, Kwiatkowski DJ, Moss J, Darling TN. Nathan N, et al. Among authors: hamieh l. J Invest Dermatol. 2016 Feb;136(2):535-538. doi: 10.1016/j.jid.2015.11.015. Epub 2015 Dec 10. J Invest Dermatol. 2016. PMID: 26824744 Free PMC article. No abstract available.
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma.
Lasseter K, Nassar AH, Hamieh L, Berchuck JE, Nuzzo PV, Korthauer K, Shinagare AB, Ogorek B, McKay R, Thorner AR, Lee GM, Braun DA, Bhatt RS, Freedman M, Choueiri TK, Kwiatkowski DJ. Lasseter K, et al. Among authors: hamieh l. Genet Med. 2020 Aug;22(8):1366-1373. doi: 10.1038/s41436-020-0801-x. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341571 Free article.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members; Kwiatkowski DJ. Ogórek B, et al. Among authors: hamieh l. Genet Med. 2020 Sep;22(9):1489-1497. doi: 10.1038/s41436-020-0823-4. Epub 2020 May 28. Genet Med. 2020. PMID: 32461669 Free article.
Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Giannikou K, et al. Among authors: hamieh l. Genet Med. 2021 Oct;23(10):2022. doi: 10.1038/s41436-020-01066-w. Genet Med. 2021. PMID: 33353975 Free article. No abstract available.
Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.
Ogórek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ. Ogórek B, et al. Among authors: hamieh l. Eur Respir J. 2019 Oct 10;54(4):1900938. doi: 10.1183/13993003.00938-2019. Print 2019 Oct. Eur Respir J. 2019. PMID: 31273045 Free PMC article. No abstract available.
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
De Ridder J, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; EPISTOP consortium. De Ridder J, et al. Epilepsia. 2021 May;62(5):1208-1219. doi: 10.1111/epi.16892. Epub 2021 Mar 29. Epilepsia. 2021. PMID: 33778971 Clinical Trial.
33 results