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Prenatal findings of paternal uniparental disomy 14: report of four patients.

作者信息

Yamanaka Michiko, Ishikawa Hiroshi, Saito Keisuke, Maruyama Yasuyo, Ozawa Katsuske, Shibasaki Jun, Nishimura Gen, Kurosawa Kenji

机构信息

Osaka Prefecture University, School of Nursing & Graduate School of Nursing, Osaka, Japan.

出版信息

Am J Med Genet A. 2010 Mar;152A(3):789-91. doi: 10.1002/ajmg.a.33247.

DOI:10.1002/ajmg.a.33247
PMID:20186803
Abstract
摘要

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1
Prenatal findings of paternal uniparental disomy 14: report of four patients.父源单亲二体14的产前检查结果:4例患者报告
Am J Med Genet A. 2010 Mar;152A(3):789-91. doi: 10.1002/ajmg.a.33247.
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Prenatal findings of paternal uniparental disomy 14: Delineation of further patient.父源单亲二体14的产前检查结果:进一步病例描述
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Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14.肋骨的衣架样外观:14号染色体父源单亲二倍体的有用诊断标志物。
Arch Dis Child. 2010 Nov;95(11):909. doi: 10.1136/adc.2010.185736. Epub 2010 Jul 23.
4
[When should evoke prenatal paternal uniparental disomy 14?].何时应引发产前父源性单亲二体14?
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Paternal uniparental disomy 14: introducing the "coat-hanger" sign.父源单亲二体14:介绍“衣架”征。
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Prenatal diagnostic indicators of paternal uniparental disomy 14.父源单亲二体14的产前诊断指标
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Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report.应用基于单核苷酸多态性的微阵列分析技术对 14 号染色体父源单亲二体性进行产前诊断:1 例病例报告。
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[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome].[加贺美-绪方综合征:肋骨异常作为一种(表观)遗传综合征临床诊断的特征性表现]
Z Geburtshilfe Neonatol. 2020 Jun;224(3):153-159. doi: 10.1055/a-1046-1424. Epub 2019 Dec 18.
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Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.14号染色体父源单亲二体:一种临床可识别表型的确认
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Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.一名4岁男孩14号染色体节段性父源单亲二体。
Clin Dysmorphol. 2012 Oct;21(4):208-211. doi: 10.1097/MCD.0b013e328356da42.

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Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome.三维超声检测衣架肋在 Kagami-Ogata 综合征产前诊断中的定量评估。
J Obstet Gynaecol Res. 2022 Dec;48(12):3314-3318. doi: 10.1111/jog.15425. Epub 2022 Sep 10.
2
Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami-Ogata Syndrome.14号染色体嵌合型父源单亲二体的产前诊断:一例加贺美-绪方综合征病例报告
Front Pediatr. 2021 Oct 21;9:691761. doi: 10.3389/fped.2021.691761. eCollection 2021.
3
Kagami-Ogata Syndrome: Case Series and Review of Literature.
加贺美-绪方综合征:病例系列及文献综述
AJP Rep. 2021 Mar;11(2):e65-e75. doi: 10.1055/s-0041-1727287. Epub 2021 May 27.
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Paternal uniparental disomy of chromosome 14.父源14号染色体单亲二体性
J Perinatol. 2014 Sep;34(9):723-5. doi: 10.1038/jp.2014.24.
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Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.父源 14 号染色体单亲二体及相关疾病:胎盘基因表达分析和组织学检查。
Epigenetics. 2012 Oct;7(10):1142-50. doi: 10.4161/epi.21937. Epub 2012 Aug 23.
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Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.父源单亲二体 14 所致胸廓畸形的影像学评估。
Pediatr Radiol. 2011 Aug;41(8):1013-9. doi: 10.1007/s00247-011-2132-1. Epub 2011 May 24.