Results 181 to 190 of about 1,639,589 (408)

Renal Transplantation in Autosomal Dominant Polycystic Kidney Disease [PDF]

European Medical Journal Nephrology, 2015
Autosomal dominant polycystic kidney disease (ADPKD) affects approximately 1 in 1,000 people in the general population. The natural history of ADPKD includes the progression of chronic kidney disease to end-stage renal disease (ESRD) in a large ...
Andrzej Kulesza, Longin Niemczyk, Mariusz Niemczyk   +2 more
doaj  

Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. [PDF]

, 1985
Anne Grobler, Gillian A. Wallis, Diana K. Brebner, Peter Beighton, A J Bester, Christopher G. Mathew   +5 more
openalex   +1 more source

Framework for assessing the risk to a field from fraudulent researchers: A case study of Alzheimer's disease

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Concerns over research integrity are rising, with increasing attention to potential threats from untrustworthy authors. We established a framework to gauge the potential negative influence of researchers potentially engaged in misconduct. The field of Alzheimer's disease (AD) research has been a focal point of these worries. This study aims to
Chaoqun Ni, B. Ian Hutchins
wiley   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 2 : retrievers and other breed types [PDF]

, 2016
A Belgian population of ten breeds with a low to moderately low genetic diversity or which are relatively popular in Belgium, i.e. Bichon frise, Bloodhound, Bouvier des Flandres, Boxer, Cavalier King Charles spaniel, Irish setter, Papillon, Rottweiler ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core  

Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. [PDF]

, 1980
R E Ferrell, Aravinda Chakravarti, Helen Mintz Hittner, Vincent M. Riccardi   +3 more
openalex   +1 more source

Mitochondria and Endoplasmic Reticulum Contact Site as a Regulator of Proteostatic Stress Responses in Neurodegenerative Diseases

BioEssays, EarlyView.
Recent findings indicate that mitochondria‐associated membranes (MAMs), where the endoplasmic reticulum directly contacts the mitochondria, are a novel microdomain essential for cellular homeostasis, including proteostasis. We summarize the disruption of protein homeostasis and MAM alteration in neurodegenerative diseases, then discuss challenges and ...
Seiji Watanabe, Koji Yamanaka
wiley   +1 more source

IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES [PDF]

, 2004
The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F ...
AVONI P, BAGATTIN A, BARUZZI A, BISULLI F, D'ORSI G, FLORINDO I, MICHELUCCI R., NOBILE C, SCUDELLARO E, STRIANO P, STRIANO, SALVATORE, TASSINARI CA, TINUPER P, VIGNATELLI L   +13 more
core  

Revascularization of a Saphenous Vein Graft Ostial Stenosis in a Patient With Marfan Syndrome and a Previous Bentall Procedure Who was Resuscitated From Ventricular Fibrillation

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT A 24‐year‐old male with Marfan syndrome was admitted following an episode of ventricular fibrillation (VF) during exercise. He had previously undergone multiple aortic surgical procedures for symptomatic aortic regurgitation and an ascending aortic false aneurysm.
Shota Tokuno, Toshiharu Takeuchi, Naoki Nakagawa   +2 more
wiley   +1 more source

Familial occurrence of imperforate hymen in premature monozygotic twins and their mother: a case report and literature review

Frontiers in Pediatrics
BackgroundImperforate hymen is an uncommon obstructive anomaly of the developing female reproductive tract. There are occasional case reports of imperforate hymen occurring in family clusters, suggesting a plausible familial mode of inheritance.
Bernadine Han Ern Chua, Zubair Amin, Zubair Amin, Yvonne Peng Mei Ng, Yvonne Peng Mei Ng   +4 more
doaj   +1 more source

Autosomal dominant multicore disease. [PDF]

, 1982
J.A.L. Vanneste, Frida Stam
openalex   +1 more source