- adj
- 死に至る、致死性の
- 関
- タナトフォリック
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- 1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
- 2. 黒色表皮腫 acanthosis nigricans
- 3. 非免疫性胎児水腫 nonimmune hydrops fetalis
- 4. 表皮母斑および表皮母斑症候群 epidermal nevus and epidermal nevus syndrome
- 5. Fetal death and stillbirth: Incidence, etiology, and prevention
English Journal
- Characterization of Membrane Protein Interactions in Plasma Membrane Derived Vesicles with Quantitative Imaging Förster Resonance Energy Transfer.
- Sarabipour S1, Del Piccolo N1, Hristova K1.
- Accounts of chemical research.Acc Chem Res.2015 Aug 5. [Epub ahead of print]
- Here we describe an experimental tool, termed quantitative imaging Förster resonance energy transfer (QI-FRET), that enables the quantitative characterization of membrane protein interactions. The QI-FRET methodology allows us to acquire binding curves and calculate association constants for comple
- PMID 26244699
- Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment.
- Barros CA1, Rezende GC, Araujo Júnior E, Tonni G, Pereira AK.
- The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.J Matern Fetal Neonatal Med.2015 Jul 27:1-6. [Epub ahead of print]
- OBJECTIVE: The aim of this study was to assess the capacity of three-dimensional ultrasound (3DUS) for predicting lethality in fetuses with skeletal dysplasia.METHODS: Twenty-four fetuses between 20 and 32 weeks of gestation were assessed. Bilateral lung volume scans were performed three times in ea
- PMID 26135769
- Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
- Chitty LS1,2, Mason S3, Barrett AN3, McKay F3, Lench N3, Daley R2, Jenkins LA3.
- Prenatal diagnosis.Prenat Diagn.2015 Jul;35(7):656-62. doi: 10.1002/pd.4583. Epub 2015 May 26.
- OBJECTIVE: Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders.MET
- PMID 25728633
Japanese Journal
- 症例報告 出生前にthanatophoric dysplasiaと診断し,家族と周産期管理方針を構築した1例
- 板井 侑里,舟山 幸,松本 眞希子 [他]
- 東京産科婦人科学会会誌 63(3), 465-469, 2014-07
- NAID 40020186073
- 予後の異なる胎児骨系統疾患の2例
- 平川 絵莉子,原田 崇,荒田 和也 [他]
- 現代産婦人科 63(2), 325-329, 2014
- NAID 40020520812
- 症例報告 出生前に3次元CTで診断した双胎1児thanatophoric dysplasia typeⅠの1例
- 木崎 尚子,秋澤 叔香,小林 藍子 [他]
- 東京産科婦人科学会会誌 61(1), 34-39, 2012-04
- NAID 40019361424
Related Links
- 致死性骨異形成症thanatophoric dysplasiaは、その名称からも示されるように、従来は出生後早期に亡くなるとされてきた重症の先天性の骨疾患です。そのため妊娠中に胎児がこの病 気であることが疑われたり、出生後に診断されたり ...
- 致死性骨異形成症の診断と予後に関する研究班は研究代表者の澤井英明が平成25年度よりこちらの「重症骨系統疾患の予後改善に向けての集学的研究班」の研究分担者として参画して、致死性骨異形成症の研究を継続いたします。
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