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Page 1
Renal tubular dysgenesis.
Gubler MC. Gubler MC. Pediatr Nephrol. 2014 Jan;29(1):51-9. doi: 10.1007/s00467-013-2480-1. Epub 2013 May 1. Pediatr Nephrol. 2014. PMID: 23636579 Review.
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. ...
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubule …
Ultra-sound diagnosis of foetal disorder.
Knox S. Knox S. Public Health. 1980 Nov;94(6):362-7. doi: 10.1016/s0033-3506(80)80139-9. Public Health. 1980. PMID: 7465756 No abstract available.
Agenesis of the venous duct: two cases of extrahepatic drainage of the umbilical vein and extrahepatic portosystemic shunt with a review of the literature.
Loomba RS, Frommelt M, Moe D, Shillingford AJ. Loomba RS, et al. Cardiol Young. 2015 Feb;25(2):208-17. doi: 10.1017/S1047951114000729. Epub 2014 May 22. Cardiol Young. 2015. PMID: 24848245 Review.
We also review all previously reported cases to better characterise this foetal disorder and the prognosis....
We also review all previously reported cases to better characterise this foetal disorder and the prognosis....
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, Crosby AH, Baple EL. Rawlins LE, et al. Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622327 Free PMC article.
Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings presenting with a lethal foetal disorder. The features of the condition are reminiscent of a Meckel-like syndrome comprising o …
Here we identified a novel homozygous founder frameshift variant in CEP55, present at low frequency in the Amish community, in two siblings …
[Cerebro-umbilical ratio--high fidelity indicator in ante-partum fetal disorder].
Bayoumy A, Crauciuc E, Pricop F. Bayoumy A, et al. Rev Med Chir Soc Med Nat Iasi. 2005 Jul-Sep;109(3):532-6. Rev Med Chir Soc Med Nat Iasi. 2005. PMID: 16607745 Romanian.
In this study, we have aimed to point out the reliability and importance of the cerebro-umbilical ratio obtained by Doppler exploration, in comparison with classical investigations, as well as to verify the diagnosis of ante-partum foetal disorder through the amount …
In this study, we have aimed to point out the reliability and importance of the cerebro-umbilical ratio obtained by Doppler exploration, in …
[Cause for increased alpha-fetoprotein values in amniotic fluid in prenatal diagnosis of genetic defects (author's transl)].
Weise W, Hemke G. Weise W, et al. Zentralbl Gynakol. 1981;103(13):740-50. Zentralbl Gynakol. 1981. PMID: 6170192 German.
The causes underlying increased alpha-fetoprotein levels included six cases of anencephalia, one case of Turner's syndrome, one omphalocele, one intra-uterine foetal death, and one puncturing injury to a foetus. No foetal malformation or other foetal disorder, known …
The causes underlying increased alpha-fetoprotein levels included six cases of anencephalia, one case of Turner's syndrome, one omphalocele, …