Liver and kidney disease in ciliopathies

M Gunay‐Aygun - American Journal of Medical Genetics Part C …, 2009 - Wiley Online Library
Hepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human
disorders. The discovery that proteins defective in the autosomal dominant and recessive …

Clinical aspects of defects in the determination of laterality

AS Aylsworth - American journal of medical genetics, 2001 - Wiley Online Library
Of individuals in the human population, 99.99% have developed identical thoracoabdominal
asymmetry with the cardiac apex, a bilobed lung, the stomach, and the spleen on the left …

Pancreatic development and disease

DA Cano, M Hebrok, M Zenker - Gastroenterology, 2007 - gastrojournal.org
The last decade has seen tremendous advances in understanding the molecular
mechanisms that control vertebrate organogenesis. Transgenic animal models, mainly in …

Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study

K Chaumoitre, M Brun, M Cassart… - … in obstetrics & …, 2006 - Wiley Online Library
Objectives To identify important factors in the differential diagnosis of renal cysts associated
with hyperechogenic kidneys. Methods This was a retrospective multicenter study. We …

Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 …

S Moalem, S Keating, P Shannon… - American Journal of …, 2013 - Wiley Online Library
Nephronophthisis associated ciliopathies (NPHP‐AC) are a group of phenotypically related
conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and …

Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature

H Zhu, Z Zhao, S Zhu, F Xiong, L He, Y Zhang, J Wang - BMC pediatrics, 2022 - Springer
Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and
autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic …

Immunohistochemical study of the phenotypic change of the mesenchymal cells during portal tract maturation in normal and fibrous (ductal plate malformation) fetal …

J Villeneuve, F Pelluard-Nehme, C Combe… - Comparative …, 2009 - Springer
Background In adult liver, the mesenchymal cells, portal fibroblasts and vascular smooth
muscle cells can transdifferentiate into myofibroblasts, and are involved in portal fibrosis …

Biliary tract malformations

AS Knisely - American Journal of Medical Genetics Part A, 2003 - Wiley Online Library
The biliary tree extends from the canals of Hering at the margin of the most peripheral portal
tracts to the ampulla of Vater. Malformations occur at every level of this structure. Phenotypic …

[图书][B] Tumor Diagnosis 2Ed: Practical approach and pattern analysis

A Al-Nafussi - 2005 - books.google.com
Tumor Diagnosis-Practical approach and pattern analysis, Second edition, has been
thoroughly revised to provide the most up-to-date information for all pathologists …

[HTML][HTML] Developmental abnormalities and liver disease in childhood

BC Portmann, EA Roberts - MacSween's Pathology of the Liver, 2011 - pmc.ncbi.nlm.nih.gov