Results 41 to 50 of about 24,959 (186)
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
Imaging in ductal plate malformations
Indian Journal of Radiology and Imaging, 2017 Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of embryogenesis. As a result various biliary malformations, cysts, hamartomas and congenital hepatic
Binit Sureka +5 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou +4 more
wiley +1 more source
Caroli's Disease: A case report
Journal of College of Medical Sciences-Nepal, 2013 Caroli's disease (CD) is a rare congenital abnormality characterized by dilatation of intra-hepatic bile ducts, recurrent cholangitis, formation of calculi inside these ducts with normal extra hepatic ducts and higher risk for cholangiocarcinoma ...
BN Patowary +4 more
doaj +1 more source
Congenital hepatic fibrosis. [PDF]
Journal of Clinical Pathology, 1976 During 10 years four patients with congenital hepatic fibrosis were seen in a general hospital in London; three presented in adult life. It is suggested that the condition may account for a larger proportion of patients with chronic liver disease than has been thought to be the case.
H J, Hodgson, D R, Davies, R P, Thompson
openaire +2 more sources
Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics
British Journal of Clinical Pharmacology, EarlyView.Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay +5 more
wiley +1 more source
Diagnostic Pathology, 2017 Background Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt.
Xiao-xiao Mi +5 more
doaj +1 more source
ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li +12 more
wiley +1 more source
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis
Orphanet Journal of Rare Diseases, 2010 Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease.
Poala Serena +2 more
doaj +1 more source
Familial Congenital Hepatic Fibrosis: Report of a Family with Three Affected Children
Acta Medica Iranica, 2013 Congenital hepatic fibrosis (CHF) is a developmental disorder of the biliary system, characterized by defective remodeling of the ductal plate. Herein a family of three children, from consanguineous parents, with minor thalassemia is presented who ...
Fatemeh Farahmand +5 more
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