Results 101 to 110 of about 656,619 (173)

常染色体显性多囊肾病的研究进展

Linchuang shenzangbing zazhi, 2016
一、背景多囊肾病（polycystic kidney disease,PKD）分为常染色体显性多囊肾病（autosomal dominant polycystic kidney disease,ADPKD）和常染色体隐性多囊肾病（aumsomal recessive polycystic kidney disease,ARPKD）两种,其中ADPKD是最常见的遗传性常染色体显性肾脏病。在美国,ADPKD发生率约为1/4001/1 000,约占终末期肾脏疾病（end stage of renal ...
葛雅婷, 熊祖应
doaj  

[Hypophyseal incidentaloma in a patient with autosomal dominant polycystic kidney disease]

, 2002
The prevalence of incidentally discovered lesions within the pituitary (pituitary incidentalomas) is about 10%. The most common form of sellar mass are clinically nonfunctioning adenomas (less than 10 mm); functioning adenomas, however, are rare ...
Fajfr, R, Diem, P, Müller, B
core  

Joubert Syndrome and Related Disorders: Congenital Hepatic Fibrosis, Autosomal Recessive Polycystic Kidney Disease, and Pigmentary Retinopathy

Case Reports in Clinical Practice, 2017
Joubert syndrome and related disorders (JSRDs) are a group of anomalies characterized by hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and apnea and hyperpnea in infancy with multiorgan involvement in which the ...
Fatemeh Farahmand, Hojjatollah Jafari-Fesharaki, Rouhullah Edalatkhah, Mohammad Eshagh Rozeh   +3 more
doaj  

Life on the list: an exploratory study of the life world of individuals waiting for a kidney transplant

, 2010
Kidney transplantation is the treatment of choice for many individuals with end stage renal disease (ESRD), as transplantation is reported to offer a greater quality of life than renal dialysis.
Long-Sutehall, Tracy, Frankland, Jane, Addington-Hall, Julia, Sque, Magi, Mason, Juan   +4 more
core   +1 more source

Autosomal recessive polycystic kidney disease diagnosed in fetus

Indian Journal of Urology, 2007
Joseph Thomas, A P Manjunath, Lavanya Rai, Ranjini Kudva   +3 more
doaj   +1 more source

A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family. [PDF]

Case Rep Obstet Gynecol
Al-Kuran O, Albadaineh R, Almallah A, Al-Atrash D, Dahbour D, Al-Mehaisen L.   +5 more
europepmc   +1 more source

Scoping Review on Polycystic Liver Disease in PKD1/PKD2 Gene Carriers: Genetic Aspects, Pathophysiology, and Therapeutic Approaches. [PDF]

J Clin Exp Hepatol
Muñoz-Delgado DY, Zuñiga-Hernández LF, Barrios-Bermúdez H, Velasco-Erira S, Diaz-Brochero C, Suarez-Quintero CY.   +5 more
europepmc   +1 more source

Evidence for a tubular basement membrane-cilia connection in autosomal dominant polycystic kidney disease pathogenesis. [PDF]

J Clin Invest
Sussman CR, Harris PC.
europepmc   +1 more source

A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome. [PDF]

Mol Genet Metab Rep
Khalilian S, Fathi M, Entezam M, Farbood Z, Ghafouri-Fard S, Dastgheib SA, Miryounesi M.   +6 more
europepmc   +1 more source

Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management. [PDF]

Genes (Basel)
Dotis J, Printza N.
europepmc   +1 more source