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present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

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1. 新生児および幼児における皮膚結節 skin nodules in newborns and infants
2. 先天性中胚葉性腎腫の出生前診断 prenatal diagnosis of congenital mesoblastic nephroma
3. 先天性血管腫：急速退縮性先天性血管腫（RICH）および非退縮性先天性血管腫（NICH） congenital hemangiomas rapidly involuting congenital hemangioma rich and noninvoluting congenital hemangioma nich
4. 房状血管腫、カポジ肉腫様血管腫、およびKasabach‐Merritt現象 tufted angioma kaposiform hemangioendothelioma and the kasabach merritt phenomenon
5. 神経芽細胞腫の臨床所見、診断、および病期分類評価 clinical presentation diagnosis and staging evaluation of neuroblastoma

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.

Narumi Y1, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.
American journal of medical genetics. Part A.Am J Med Genet A.2014 May;164A(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24.
Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataracts can be difficult because of genetic heterogeneit
PMID 24664492

ChildSeq-RNA: A next-generation sequencing-based diagnostic assay to identify known fusion transcripts in childhood sarcomas.

Qadir MA1, Zhan SH2, Kwok B1, Bruestle J3, Drees B3, Popescu OE4, Sorensen PH5.
The Journal of molecular diagnostics : JMD.J Mol Diagn.2014 May;16(3):361-70. doi: 10.1016/j.jmoldx.2014.01.002. Epub 2014 Feb 8.
Childhood sarcomas can be extremely difficult to accurately diagnose on the basis of morphological characteristics alone. Ancillary methods, such as RT-PCR or fluorescence in situ hybridization, to detect pathognomonic gene fusions can help to distinguish these tumors. Two major deficiencies of thes
PMID 24517889

Ainsworth KE1, Chavhan GB, Gupta AA, Hopyan S, Taylor G.
Pediatric radiology.Pediatr Radiol.2014 Apr 6. [Epub ahead of print]
BACKGROUND: Fibrosarcoma is a rare tumor in children with limited information on imaging features of these tumors in the literature.OBJECTIVE: To retrospectively review the imaging features of histologically proven congenital infantile fibrosarcoma.MATERIALS AND METHODS: The list of histologically c
PMID 24706181

西明,山本英輝,土岐文彰,鈴木則夫,京谷琢治,関矢亜矢子,浜島昭人,平戸純子
日本小児外科学会雑誌 = Journal of the Japanese Society of Pediatric Surgery 49(5), 996-1002, 2013-08-20
NAID 10031185847

西明,山本英輝,土岐文彰,鈴木則夫,京谷琢冶,関矢亜矢子,浜島昭人,平戸純子
日本小児外科学会雑誌 49(5), 996-1002, 2013
出生当日に緊急手術を要した背部先天性線維肉腫の女児例を経験したので報告する．在胎24週5 日に胎児超音波検査にて右背部の多房性囊胞を含む7 cm 大の突出する腫瘤を指摘された．一部石灰化所見を有し奇形腫が疑われた．胎児貧血，胎児水腫および心不全徴候などは認めなかったが，腫瘤径が10 cm を超えたため在胎31 週1 日に予定帝王切開で出生した．出生体重2,199 g で右背部腫瘤径は10 cm，広 …
NAID 130004624710