Results 61 to 70 of about 1,035 (181)

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives [PDF]

, 2015
Next-generation sequencing (NGS) technologies have greatly impacted on every field of molecular research mainly because they reduce costs and increase throughput of DNA sequencing.
D'Argenio, Valeria, De Palma, Fatima Domenica Elisa, Del Monaco, Valentina, Esposito, Maria Valeria, Precone, Vincenza, Ruocco, Anna, Salvatore, Francesco   +6 more
core   +3 more sources

Genomic profiling in rare kidney disease [PDF]

, 2023
Rare diseases (RD), generally defined by an incidence of less than 1:2000, affect about 3-6% of the population. To date, over 600 different genetic kidney diseases have been identified.
Tschernoster, Nikolai
core  

Examination of role of Triglyceride-level Modulating Polymorphisms in Development of Ischemic Stroke [PDF]

, 2011
7
Járomi Luca
core  

New insights into sodium transport regulation in the distal nephron: Role of G-protein coupled receptors [PDF]

, 2016
International audienceThe renal handling of Na+ balance is a major determinant of the blood pressure (BP) level. The inability of the kidney to excrete the daily load of Na+ represents the primary cause of chronic hypertension.
Crambert, Gilles, Edwards, Aurélie, Morla, Luciana   +2 more
core   +4 more sources

Maternal pseudo-Bartter syndrome associated with severe perinatal brain injury

Indian Pediatrics, 2017
Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury.This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting.Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent
Shrenik, Vora, Thowfique, Ibrahim, Victor Samuel, Rajadurai   +2 more
openaire   +2 more sources

Role of Interleukin-23 Receptor Gene Polymorphisms in Autoimmune and Immune Mediated Diseases [PDF]

, 2011
6
Sáfrány Enikő
core  

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions [PDF]

, 2023
BACKGROUND: Long-read sequencing is increasingly used to uncover structural variants in the human genome, both functionally neutral and deleterious. Structural variants occur more frequently in regions with a high homology or repetitive segments, and one
Altmüller, Janine, Bartram, Malte P, Beck, Bodo, Becker, Christian, Bockenhauer, Detlef, Borodina, Tatiana, Driller, Jan H, Erger, Florian, Franitza, Marek, Hüttel, Bruno, Kohl, Stefan, Kukat, Christian, Kömhoff, Martin, Nürnberg, Peter, Pedersen, Bjørn P, Quedenau, Claudia, Reusch, Björn, Rinschen, Markus M, Schlingmann, Karl P, Schumacher, Lena, Thiele, Holger, Tschernoster, Nikolai, Walsh, Stephen, Wenzel, Andrea   +23 more
core  

Pseudo-Bartter syndrome in a pregnant mother and her fetus

Pediatric Nephrology, 2006
Pseudo-Bartter syndrome presents the same clinical and biological characteristics as Bartter syndrome but without primary renal tubule abnormalities. We relate the case of a premature baby presenting at birth with severe hypokalemic metabolic alkalosis associated with hyponatremia and hypochloremia.
Mathot, Mikaël, Maton, Pierre, Henrion, Elisabeth, François-Adant, Anne, Marguglio, Arnaud, Gaillez, Stéphanie, Collard, Laure, Langhendries, Jean-Paul   +7 more
openaire   +4 more sources

Ventricular fibrillation after pseudo-Bartter's syndrome [PDF]

Annals of Emergency Medicine, 2002
Hayakawa, Mineji, Sugimoto, Satoru, Matsubara, Izumi, Gando, Satoshi, Kameue, Takashi, Morimoto, Yuji   +5 more
openaire   +2 more sources

Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria. [PDF]

Electrolyte Blood Press, 2023
Lee SH, Lee S, Kim H, Kim GH.
europepmc   +1 more source