Results 61 to 70 of about 5,682,559 (225)

ENFERMEDAD QUISTICA RENAL EN LA EDAD PEDIÁTRICA

Revista Chilena de Radiología, 2007
Las enfermedades quísticas renales incluyen una variada gama de patologías y representan un desafío diagnóstico tanto para el clínico como para el radiólogo. Existen diversas clasificaciones, que puede crear confusión en la interpretación de las imágenes.
Carolina Pérez S, Karla Moénne B
doaj  

Costs and Benefits of Prenatal Screening For Cystic Fibrosis [PDF]

Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and ...
Alan M. Garber, Joseph P. Fenerty
core  

Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes

International Journal of Nephrology and Renovascular Disease, 2013
Jada Pasquale Yengkopiong, Joseph Daniel Wani LakoJohn Garang Memorial University of Science and Technology, Faculty of Science and Technology, Bor, Jonglei State, Republic of South SudanBackground: Nephronophthisis (NPHP), which affects multiple organs,
Yengkopiong JP, Lako JD
doaj  

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

Kidney International Reports
Introduction: In pediatric patients, monogenic causes are a significant contributor to kidney disease, ranging from approximately 10% in congenital anomalies of the kidney and urinary tract (CAKUT) to about 55% in renal ciliopathies. Exome sequencing has
Katharina Lemberg, Mohamed A. Shalaby, Elena Zion, Ken Saida, Kirollos Yousef, Ronen Schneider, Nils D. Mertens, Bshara Mansour, Caroline M. Kolvenbach, Lea M. Merz, Korbinian M. Riedhammer, Alina Braun, Selina Hölzel, Seyoung Yu, Kraisoon Lomjansook, Gina Kalkar, Daniel Marchuk, Izzeldin Elmubarak, Gijs A.C. Franken, Shirlee Shril, Sherif El Desoky, Jameela A. Kari, Florian Buerger, Friedhelm Hildebrandt   +23 more
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Cyclin-dependent kinase 4 drives cystic kidney disease in the absence of mTORC1 signaling activity [PDF]

Progression of cystic kidney disease has been linked to activation of the mTORC1 signaling pathway. Yet the utility of mTORC1 inhibitors to treat patients with polycystic kidney disease remains controversial despite promising preclinical data.
Todkar, A., Boerries, Melanie, Reichardt, W., Moulin, Pierre, Freedman, B.S., Todkar, Abhijeet, Walz, Gerd, Kramann, R., Wu, Hui, Todkar, Abhijeet P., Moulin, P., Huber, T.B., Xu, Yaoxian, Kramann, Rafael, Reichardt, Wilfried, Boerries, M., Puelles, Victor G., Gulieva, R.E., Puelles, V.G., Grahammer, Florian, Sulaimanov, N., Grahammer, F., Arnold, Frederic, Wu, H., Freedman, Benjamin S., Busch, H., Sandner, Lukas, Xu, Y., Walz, G., Busch, Hauke, Dumoulin, B., Sulaimanov, Nurgazy, Gulieva, Ramila E., Dumoulin, Bernhard, Huber, Tobias B., Arnold, F., Sandner, L., Cordts, Tomke, Cordts, T.   +38 more
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Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2016
Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.
N. S. Kamakeri
doaj  

Original parts: Aging and reckoning with cystic fibrosis related kidney disease [PDF]

, 2018
Kidney disease increasingly impacts people with cystic fibrosis (CF) as adult patients continue to survive longer. Yet the literature on CF related kidney disease focuses little on amplifying the voices of people aging with the condition.
Nowakowski, Alexandra CH, Alexandra CH Nowakowski, Alexandra Nowakowski   +2 more
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Wnt and planar cell polarity signaling in cystic renal disease [PDF]

, 2013
Cystic kidney diseases can cause end stage renal disease, affecting millions of individuals worldwide. They may arise early or later in life, are characterized by a spectrum of symptoms and can be caused by diverse genetic defects.
Goggolidou, Paraskevi
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Ischiospinal dysostosis with cystic kidney disease: report of two cases.

, 2003
Ischiospinal dysostosis (ISD) is a recently described entity characterized by ischial hypoplasia and spinal segmental anomalies. Nephroblastomatosis that may manifest radiologically as 'polycystic kidney disease' has been regarded as a syndromic ...
Nishimura, G, Sato, S, Kim, OH, Hasegawa, T   +3 more
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Emerging Therapies for Childhood Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
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