特雷彻·柯林斯综合征 - Suppr

Suppr

超能文献

Treacher Collins syndrome.

作者信息

Dixon M J

机构信息

School of Biological Sciences, University of Manchester, UK.

出版信息

J Med Genet. 1995 Oct;32(10):806-8. doi: 10.1136/jmg.32.10.806.

DOI:10.1136/jmg.32.10.806

PMID:8558560

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1051706/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01f1/1051706/6587ae3f9bb5/jmedgene00277-0048-a.jpg

相似文献

Treacher Collins syndrome.特雷彻·柯林斯综合征

J Med Genet. 1995 Oct;32(10):806-8. doi: 10.1136/jmg.32.10.806.

[7 cases of mandibulofacial dysostosis. Franceschetti-Zwahlen syndrome, Treacher-Collins syndrome. Case description and therapeutic possibilities].

HNO. 1966 Sep;14(9):274-8.

Ear deformities in mandibulofacial dysostosis.下颌面骨发育不全中的耳部畸形。

Acta Otolaryngol Suppl. 1992;493:113-7.

[Treacher Collins' syndrome].[特雷彻·柯林斯综合征]

Pediatr Pol. 1975 Dec;50(12):1481-4.

Mandibulo-facial dysostosis. (Treacher-Collins syndrome).下颌面部发育不全。（特雷彻-柯林斯综合征）

Am J Dis Child. 1967 Apr;113(4):405-10. doi: 10.1001/archpedi.1967.02090190051001.

Mandibulofacial dysostosis (Treacher Collins syndrome): a case report.下颌面骨发育不全（特雷彻·柯林斯综合征）：病例报告

J Natl Med Assoc. 1992 Dec;84(12):1051-4.

Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis.兔遗传性大口畸形：一种下颌面骨发育不全的形式——特雷彻·柯林斯综合征的模型。

J Hered. 1979 Nov-Dec;70(6):369-72. doi: 10.1093/oxfordjournals.jhered.a109279.

Treacher Collins syndrome.特雷彻·柯林斯综合征

Ear Nose Throat J. 1999 Oct;78(10):752.

Treacher Collins syndrome.

Adv Otorhinolaryngol. 2000;56:53-9. doi: 10.1159/000059083.

Treacher Collins syndrome: a case review.特雷彻·柯林斯综合征：病例回顾

Adv Neonatal Care. 2011 Dec;11(6):389-94; quiz 395-6. doi: 10.1097/ANC.0b013e3182338070.

引用本文的文献

Mechanisms of ribosomopathy and phase separation-related ribosomopathy.核糖体病机制及相分离相关核糖体病

J Zhejiang Univ Sci B. 2025 Jun 2;26(6):503-526. doi: 10.1631/jzus.B2300904.

Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization.Treacher Collins综合征中新型TCOF1突变的鉴定及其功能特征分析

Orphanet J Rare Dis. 2025 Apr 16;20(1):184. doi: 10.1186/s13023-025-03667-7.

DRMY1 promotes robust morphogenesis in Arabidopsis by sustaining the translation of cytokinin-signaling inhibitor proteins.DRMY1通过维持细胞分裂素信号抑制蛋白的翻译来促进拟南芥的强大形态发生。

Dev Cell. 2024 Dec 2;59(23):3141-3160.e7. doi: 10.1016/j.devcel.2024.08.010. Epub 2024 Sep 20.

The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4.自发性小鼠突变低耳（Lse）是由 Fgf3 和 Fgf4 的串联重复引起的。

Mamm Genome. 2023 Sep;34(3):453-463. doi: 10.1007/s00335-023-09999-8. Epub 2023 Jun 21.

Treacher Collins syndrome: A case report and review of literature.特雷彻·柯林斯综合征：一例病例报告及文献综述

Clin Case Rep. 2022 Dec 27;10(12):e6782. doi: 10.1002/ccr3.6782. eCollection 2022 Dec.

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.神经嵴细胞与眼睛发育之间相互作用的遗传学基础。

J Dev Biol. 2020 Nov 10;8(4):26. doi: 10.3390/jdb8040026.

Neural crest contributions to the ear: Implications for congenital hearing disorders.神经嵴对耳朵的贡献：对先天性听力障碍的影响。

Hear Res. 2019 May;376:22-32. doi: 10.1016/j.heares.2018.11.005. Epub 2018 Nov 14.

The development of the mammalian outer and middle ear.哺乳动物外耳和中耳的发育。

J Anat. 2016 Feb;228(2):217-32. doi: 10.1111/joa.12344. Epub 2015 Jul 30.

Etiology and pathogenesis of the cohesinopathies.黏连蛋白病的病因及发病机制。

Wiley Interdiscip Rev Dev Biol. 2015 Sep-Oct;4(5):489-504. doi: 10.1002/wdev.190. Epub 2015 Apr 7.

Clinical spectrum of Treacher Collins syndrome.特雷彻·柯林斯综合征的临床谱

J Oral Biol Craniofac Res. 2011 Oct-Dec;1(1):36-40. doi: 10.1016/S2212-4268(11)60009-2.

本文引用的文献

MANDIBULOFACIAL DYSOSTOSIS, A FAMILIAL STUDY OF FIVE GENERATIONS.下颌面部骨发育不全，五代家族研究

J Pediatr. 1964 Aug;65:215-21. doi: 10.1016/s0022-3476(64)80522-9.

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.将特雷彻·柯林斯综合征基因座的位置缩小至5q32 - 33.1处三个新微卫星标记之间的一个小间隔区域。

Am J Hum Genet. 1993 May;52(5):907-14.

Mild mandibulofacial dysostosis in a child with a deletion of 3p.一名患有3p缺失的儿童的轻度下颌面骨发育不全。

Am J Med Genet. 1993 Jun 15;46(5):534-6. doi: 10.1002/ajmg.1320460515.

A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.围绕5号染色体q臂上的特雷彻·柯林斯综合征基因座的联合遗传和辐射杂种图谱。

Hum Mol Genet. 1993 Nov;2(11):1785-92. doi: 10.1093/hmg/2.11.1785.

Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.与5号染色体q3区域的基因座相关的特雷彻·柯林斯综合征基因座的遗传和物理图谱。

Genomics. 1993 Oct;18(1):7-13. doi: 10.1006/geno.1993.1420.

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.特雷彻·柯林斯综合征：临床与基因连锁研究之间的相关性

Clin Dysmorphol. 1994 Apr;3(2):96-103.

Recurrence of Treacher Collins' syndrome with sonographic findings.

Mil Med. 1994 Mar;159(3):250-2.

A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.一个包含5q31.3 - 32区域特雷彻·柯林斯综合征关键区域的酵母人工染色体连续克隆系。

Am J Hum Genet. 1994 Aug;55(2):372-8.

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.特雷彻·柯林斯-弗朗西谢蒂综合征的表观遗传同质性。

Am J Med Genet. 1994 Aug 15;52(2):174-7. doi: 10.1002/ajmg.1320520210.

Growth inhibition and occurrence of cleft palates due to hypervitaminosis A.维生素A过多症导致的生长抑制和腭裂发生。

Experientia. 1981 Nov 15;37(11):1189-91. doi: 10.1007/BF01989912.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验