| 1. |
周佳俊, 朱敏, 赵晓科, 等. Bryant-Li-Bhoj神经发育综合征2型1例并文献复习. 中华实用儿科临床杂志, 2024, 39(5): 380-382.
|
| 2. |
Bryant L, Li D, Cox SG, et al. Histone H3. 3 beyond cancer: germline mutations in histone 3 family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv, 2020, 6(49): eabc9207.
|
| 3. |
Hojo M, Soma N, Yamada K, et al. Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant. Human Genome Variation, 2024, 11(1): 45.
|
| 4. |
Maver A, Čuturilo G, Ruml SJ, et al. Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation. Balkan Journal of Medical Genetics, 2019, 22: 65-68.
|
| 5. |
Okur V, Chen Z, Vossaert L, et al. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genomic Medicine, 2021, 6(1): 104.
|
| 6. |
Layo-Carris DE, Lubin EE, Sangree AK, et al. Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European Journal of Human Genetics, 2024, 32: 928-937.
|
| 7. |
Khazaei S, Chen CCL, Andrade AF, et al. Single substitution in H3. 3G34 alters DNMT3A recruitment to cause progressive neurodegeneration. Cell, 2023, 186: 1162-1178,e1120.
|
| 8. |
Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 2017, 58(2): 512-521.
|
| 9. |
Specchio N, Trivisano M, Aronica E, et al. The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives. Lancet Child Adolesc Health, 2024, 8: 821-834.
|
| 10. |
Lewis PW, Müller MM, Koletsky MS, et al. Inhibition of PRC2 Activity by a Gain-of-Function H3 Mutation Found in Pediatric Glioblastoma. Science, 2013, 340: 857-861.
|
| 11. |
Chen KY, Bush K, Klein RH, et al. Reciprocal H3. 3 gene editing identifies K27M and G34R mechanisms in pediatric glioma including NOTCH signaling. Commun Biol, 2020, 3(1): 363.
|
| 12. |
Bryant L, Sangree A, Clark K, Bhoj E. Histone 3. 3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species. Hum Genet, 2024, 143(4): 497-510.
|
