• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

作者信息

Hoffer J L, Fryssira H, Konstantinidou A E, Ropers H-H, Tzschach A

出版信息

Clin Genet. 2013 Jan;83(1):92-5. doi: 10.1111/j.1399-0004.2012.01880.x. Epub 2012 Apr 9.

DOI:10.1111/j.1399-0004.2012.01880.x
PMID:22486404
Abstract
摘要

相似文献

1
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).颅面外胚层发育不良(森森布伦纳综合征)患者中的新型WDR35突变。
Clin Genet. 2013 Jan;83(1):92-5. doi: 10.1111/j.1399-0004.2012.01880.x. Epub 2012 Apr 9.
2
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.一个患有森森布伦纳综合征且存在双等位基因WDR35突变的波兰家族中的家族内表型变异性。
Am J Med Genet A. 2017 May;173(5):1364-1368. doi: 10.1002/ajmg.a.38163. Epub 2017 Mar 23.
3
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.三名患有颅外胚层发育不良的阿根廷患者中的新型IFT122突变:扩大突变谱。
Am J Med Genet A. 2016 May;170A(5):1295-301. doi: 10.1002/ajmg.a.37570. Epub 2016 Jan 21.
4
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.Sensenbrenner 综合征(颅外胚层发育不良)伴 WDR35 双等位基因突变男性患者的临床及分子遗传学特征。
Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14.
5
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.一名颅外胚层发育不良患者的呼吸运动性纤毛功能障碍。
Am J Med Genet A. 2015 Sep;167A(9):2188-96. doi: 10.1002/ajmg.a.37133. Epub 2015 Apr 25.
6
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.一种与颅外胚层发育不良相符的相对轻度的骨骼纤毛病表型与WDR35中的纯合非同义突变相关。
Am J Med Genet A. 2016 Mar;170(3):760-5. doi: 10.1002/ajmg.a.37514. Epub 2015 Dec 22.
7
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.森滕布伦纳综合征(颅外胚层发育不良):39 例患者的临床和分子分析,包括两例新患者。
Am J Med Genet A. 2013 Nov;161A(11):2762-76. doi: 10.1002/ajmg.a.36265. Epub 2013 Oct 3.
8
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.IFT52基因中的纯合无义变异与一种人类骨骼纤毛病相关。
Clin Genet. 2016 Dec;90(6):536-539. doi: 10.1111/cge.12762. Epub 2016 Mar 15.
9
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.四个波兰颅外胚层发育不良家系中存在家族间临床变异性,并且 WDR35 存在相同的复合杂合变异体。
Am J Med Genet A. 2021 Apr;185(4):1195-1203. doi: 10.1002/ajmg.a.62067. Epub 2021 Jan 9.
10
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.WDR35 突变致 Sensenbrenner 综合征同胞患病:一种表型可变的纤毛病。
Am J Med Genet A. 2012 Nov;158A(11):2917-24. doi: 10.1002/ajmg.a.35608. Epub 2012 Sep 17.

引用本文的文献

1
Case Report: Prenatal diagnosis of novel compound heterozygous variants in gene causing short-rib thoracic dysplasia 7 with or without polydactyly.病例报告:产前诊断导致伴有或不伴有多指畸形的短肋胸廓发育不良7型的基因中的新型复合杂合变异。
Front Pediatr. 2025 Jan 14;12:1503455. doi: 10.3389/fped.2024.1503455. eCollection 2024.
2
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with variants.一名患有变异型颅外胚层发育不良患者肾上皮细胞的纤毛表型分析
Front Mol Biosci. 2023 Dec 12;10:1285790. doi: 10.3389/fmolb.2023.1285790. eCollection 2023.
3
Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).
病例报告:森森布伦纳综合征(颅外胚层发育不良)患者肾移植后序贯肝移植
Front Pediatr. 2022 Feb 25;10:834064. doi: 10.3389/fped.2022.834064. eCollection 2022.
4
Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.两例同胞兄弟姐妹患森森布伦纳综合征,表现为严重厌食、生长发育迟缓、慢性肾脏病及天使状中节指骨
Mol Syndromol. 2021 Jul;12(4):263-267. doi: 10.1159/000515645. Epub 2021 Jun 16.
5
Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus).比较基因组学为深入了解非洲野犬(Lycaon pictus)的显著适应性提供了新的见解。
Sci Rep. 2019 Jun 6;9(1):8329. doi: 10.1038/s41598-019-44772-5.
6
Identifying RNA splicing factors using genes in .利用 基因鉴定 RNA 剪接因子。
Open Biol. 2018 Mar;8(3). doi: 10.1098/rsob.170211.
7
Role for the IFT-A Complex in Selective Transport to the Primary Cilium.IFT-A复合体在向初级纤毛的选择性运输中的作用。
Cell Rep. 2016 Nov 1;17(6):1505-1517. doi: 10.1016/j.celrep.2016.10.018.
8
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.通过靶向重测序在非近亲家庭中鉴定出的罕见肾纤毛病。
Clin Exp Nephrol. 2017 Feb;21(1):136-142. doi: 10.1007/s10157-016-1256-x. Epub 2016 Mar 11.
9
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.WDR35中的特定变体通过破坏EvC复合物和SMO进入纤毛的募集过程,导致一种独特形式的埃利斯-范克里维尔德综合征。
Hum Mol Genet. 2015 Jul 15;24(14):4126-37. doi: 10.1093/hmg/ddv152. Epub 2015 Apr 23.
10
Cilia/Ift protein and motor -related bone diseases and mouse models.纤毛/IFT 蛋白和动力相关的骨疾病及小鼠模型。
Front Biosci (Landmark Ed). 2015 Jan 1;20(3):515-55. doi: 10.2741/4323.