Results 81 to 90 of about 19,725 (236)
Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]
, 2019 Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M +33 more
core +2 more sources
Prenatal Diagnosis, EarlyView.ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau +10 more
wiley +1 more source
Intestinal Atresia in Finland: Maternal Risk Factors, Prevalence, Associated Anomalies and Survival
Acta Paediatrica, EarlyView.ABSTRACT Aim We aimed to investigate prevalence, associated anomalies and survival of congenital intestinal atresia and to examine maternal risk factors for jejunoileal atresia (JIA). Methods All children born with, or pregnancies terminated because of, JIA or colonic atresia (CA) in Finland during 1987–2019 were identified from the Finnish Register of
Esko Tahkola +9 more
wiley +1 more source
The Current Status of Liver Transplantation. [PDF]
, 1971 More than thirty patients have now undergone liver transplantation in Denver, some more than once, and survivals of up to two and a half years have been achieved. Through this and other experience it has been learned that graft viability is more critical
Starzl, Thomas E
core +1 more source
The FEBS Journal, EarlyView.Moderate overexpression of wild‐type Met in hepatocytes (Alb‐R26Met mouse model) boosts a strong antioxidant response dependent on the glutathione system while impairing TGF‐β signaling in the liver. This leads to improved liver regeneration and protects against DDC‐induced injury, a model for cholestatic disease sharing features with primary ...
Carlos González‐Corralejo +16 more
wiley +1 more source
Hepatocellular carcinoma in the native liver of a 38-year-old female patient with biliary atresia
Journal of Pediatric Surgery Case Reports, 2015 We report a rare case of hepatocellular carcinoma in native liver in a case of biliary atresia. The patient was a 38-year-old female with three children who had an aggressive tumor, resulting in her subsequent death.
Yutaka Kanamori +7 more
doaj +1 more source
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 [PDF]
, 2018 Biliary atresia (BA) is a rare pediatric cholangiopathy characterized by fibrosclerosing obliteration of the extrahepatic bile ducts, leading to cholestasis, fibrosis, cirrhosis, and eventual liver failure.
Bailey-Wilson, Joan E +12 more
core +2 more sources
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
Paediatric and Perinatal Epidemiology, EarlyView.ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source
Biliary atresia associated with choledochal cyst
African Journal of Paediatric Surgery, 2009 Choledochal cyst and biliary atresia are rare but important causes of neonatal jaundice. Both present with jaundice and acholic stool in neonatal period. Treatment and prognosis of both entities are very different.
Obaidah Abu +3 more
doaj
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 971-977, April 2026.ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson +3 more
wiley +1 more source