Results 131 to 140 of about 3,318 (192)

CONGENITAL HEPATIC FIBROSIS AND OBLITERATIVE PORTAL VENOPATHY WITHOUT PORTAL HYPERTENSION - A REVIEW OF LITERATURE BASED ON AN ASYMPTOMATIC CASE

Arquivos de Gastroenterologia
The disease and the case reported here are relevant especially because of their varied clinical presentation, possibility of being associated with other disorders affecting several organs and possible differential diagnoses.
Juliana Arrais GUERRA, Kátia Cristina KAMPA, Maurício ZAPPAROLI, Venâncio AF ALVES, Cláudia Alexandra Pontes IVANTES   +4 more
doaj   +1 more source

Ciliary Dysfunction in Polycystic Kidney Disease: An Emerging Model with Polarizing Potential [PDF]

, 2008
The majority of different cell types in the human body have a cilium, a thin rod-like structure of uniquely arranged microtubules that are encapsulated by the surface plasma membrane.
Kolb, Robert J., Nauli, Surya M.
core   +1 more source

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios [PDF]

, 2022
Takuya Sakyu, Samantha Stover, Yue Wang, Patricia A. Ward, Manisha Gandhi, Michael Braun, Ignatia B. Van den Veyver, Weimin Bi   +7 more
openalex   +1 more source

Molecular Profiling and the Interaction of Somatic Mutations with Transcriptomic Profiles in Non-Melanoma Skin Cancer (NMSC) in a Population Exposed to Arsenic

Cells
Exposure to inorganic arsenic (As) is recognized as a risk factor for non-melanoma skin cancer (NMSC). We followed up with 7000 adults for 6 years who were exposed to As.
Farzana Jasmine, Maria Argos, Yuliia Khamkevych, Tariqul Islam, Muhammad Rakibuz-Zaman, Mohammad Shahriar, Christopher R. Shea, Habibul Ahsan, Muhammad G. Kibriya   +8 more
doaj   +1 more source

Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes

AACE Clinical Case Reports
Background/Objective: Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient.
Doua Khalid Al Homyani, MD, Lina Al Homaiani, MD   +1 more
doaj  

Comparison between two amplicon-based sequencing panels of different scales in the detection of somatic mutations associated with gastric cancer [PDF]

, 2016

core   +1 more source

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes [PDF]

, 2008
Edghill, Emma L., Erlandson, Jerold C., Hattersley, Andrew T., Stolpen, Alan H., Thomas, Christie P.   +4 more
core   +1 more source

CALCIUM HOMEOSTASIS AND POLYCYSTIN-2 EXPRESSION IN T-LYMPHOBLASTS OF PKD SUBJECTS [PDF]

, 2009
Mutations of polycystin-1 (PC1) and polycystin-2 (PC2), coded by PKD1 and PKD2 genes, account for approximately 85 and 15% of Autosomal Dominant Polycystic Kidney Disease (ADPKD) cases, a common and important inherited kidney disorder.
Durante, Chiara
core  

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease

Brazilian Journal of Medical and Biological Research, 2006
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver.
L.F. Menezes, L.F. Onuchic
doaj  

Polycystic Kidney Disease:The Cyst-ematic Destruction of Renal Function [PDF]

Polycystic kidney disease is the most common genetic, life-threatening disease, affecting more than 12.5 million people worldwide. Fluid-filled renal cysts that eventually destroy renal tissue and renal function altogether are characteristic of ...
Ahmad, Sadaf, Choi, Ray, Roberts, Quincy, Simpson, Ben, Wallace, Jennillee   +4 more
core   +1 more source