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Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.自闭症基因 PTCHD1 的神经元转录受保守下游增强子序列调控。
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Early-onset catatonia associated with mutations: looking at the autism spectrum through the prism of psychomotor phenomena.与突变相关的早发性紧张症：从精神运动现象的角度审视自闭症谱系
Front Psychiatry. 2023 Sep 22;14:1186555. doi: 10.3389/fpsyt.2023.1186555. eCollection 2023.
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Reduced neurite density index in the prefrontal cortex of adults with autism assessed using neurite orientation dispersion and density imaging.使用神经突方向离散度和密度成像评估的自闭症成年患者前额叶皮质中神经突密度指数降低。
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Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome.佩兰-麦克德米德综合征患者的辐射敏感性增加。
Cells. 2023 Mar 6;12(5):820. doi: 10.3390/cells12050820.
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Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.费兰-麦克德米德综合征的产前和产后诊断：来自某医疗中心的21例报告及文献综述
Front Genet. 2022 Aug 31;13:961196. doi: 10.3389/fgene.2022.961196. eCollection 2022.
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Descriptive Analysis of Adaptive Behavior in Phelan-McDermid Syndrome and Autism Spectrum Disorder.费兰-麦克德米德综合征和自闭症谱系障碍中适应性行为的描述性分析
Front Neurosci. 2022 Jul 4;16:893003. doi: 10.3389/fnins.2022.893003. eCollection 2022.
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Phelan-McDermid syndrome: a classification system after 30 years of experience.佩兰-麦克德米德综合征：30 年经验后的分类系统。
Orphanet J Rare Dis. 2022 Jan 29;17(1):27. doi: 10.1186/s13023-022-02180-5.
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Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone.病例报告：22号环状染色体在伴有非典型畸胎样/横纹肌样肿瘤的费兰-麦克德米德综合征中的新作用：首例接受生长激素治疗的患儿
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Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.强力证据表明 Phelan-McDermid 综合征存在基因型-表型相关性：来自发育突触病联盟的研究结果。
Hum Mol Genet. 2022 Feb 21;31(4):625-637. doi: 10.1093/hmg/ddab280.
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Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.遗传发现作为普氏综合征个体化药物治疗的潜在基础。
Genes (Basel). 2021 Jul 30;12(8):1192. doi: 10.3390/genes12081192.

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

作者信息

Luciani J J, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette M-F, Mattei M-G

出版信息

J Med Genet. 2003 Sep;40(9):690-6. doi: 10.1136/jmg.40.9.690.

DOI:10.1136/jmg.40.9.690
PMID:12960216
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735584/
Abstract
摘要