Results 181 to 190 of about 117,699 (379)

Pre‐symptomatic risdiplam treatment for spinal muscular atrophy initiated at 12 days post‐birth: 14‐month safety and developmental outcomes

Pediatric Investigation, EarlyView.
Zhihao Sun, Liping Wu, Yufan Hui, Yuhang Zhong, Jiangtao Yang, Zhiyong Sun, Xiaoling Huang, Hui Xiong   +7 more
wiley   +1 more source

Nicotinamide Riboside Supplementation Benefits in Patients With Werner Syndrome: A Double‐Blind Randomized Crossover Placebo‐Controlled Trial

Aging Cell, EarlyView.
Nicotinamide riboside improved arterial stiffness (cardio–ankle vascular index), reduced skin ulcer area, and showed a trend toward mitigating heel pad thinning in patients with Werner syndrome, with no serious adverse events. Metabolomic analysis revealed a significant decrease in creatinine, suggesting a potential suppression of renal functional ...
Mayumi Shoji, Hisaya Kato, Masaya Koshizaka, Hiyori Kaneko, Yusuke Baba, Takahiro Ishikawa, Naoya Teramoto, Daisuke Kinoshita, Ayano Yamaguchi, Yukari Maeda, Yosuke Inaba, Yuki Shiko, Yoshihito Ozawa, Vilhelm A. Bohr, Yoshiro Maezawa, Koutaro Yokote   +15 more
wiley   +1 more source

Spontaneous renal hemorrhage in acquired cystic kidney disease. [PDF]

J Gen Fam Med, 2021
Kajikawa M, Tanji H, Higashi Y.
europepmc   +1 more source

A CNN Approach to Polygenic Risk Prediction of Kidney Stone Formation [PDF]

arXiv
Kidney stones are a common and debilitating health issue, and genetic factors play a crucial role in determining susceptibility. While Genome-Wide Association Studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs) linked to kidney stone risk, translating these findings into effective clinical tools remains a challenge.
arxiv  

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21 [PDF]

, 2001
Mari Auranen, Sirpa Ala‐Mello, Joni A. Turunen, Irma Järvelä   +3 more
openalex   +1 more source

Aggressive Neoplasms That Mimic Chronic Endodontic Lesions: A Multi‐Institutional Case Series

Australian Endodontic Journal, EarlyView.
ABSTRACT This study aimed to report sociodemographic, clinicopathologic and radiological features of 12 cases of aggressive neoplasms that were clinically diagnosed as chronic endodontic lesions. The series comprised seven females (58.33%) and five males (41.67%), with a mean age of 48.9 ± 19.19 years (range: 16–75 years).
Natália Gonçalves Macedo, Fernanda Geraldo Pappen, Bernardo da Fonseca Orcina, Gustavo Mascarenhas, Jean Nunes dos Santos, Paulo Sérgio da Silva Santos, Carolina Clasen Vieira, Alexandre Simões Garcia, Alini Cardoso Soares, Lauren Frenzel Schuch, Ana Paula Neutzling Gomes, Ana Carolina Uchoa Vasconcelos   +11 more
wiley   +1 more source

A CASE OF ACQUIRED CYSTIC DISEASE OF BILATERAL KIDNEYS WITH RENAL CELL CARCINOMA FOLLOWING LONG-TERM HEMODIALYSIS

, 1991
Akinobu Gotoh, Kazuo Gohji, Yohei Mizuno, S Arakawa, O. Matsumoto, S Kamidono, Nozomu Yamanaka, Sanghoon Shin   +7 more
openalex   +2 more sources

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12 [PDF]

, 2001
Nick Hateboer, Curtis Gumbs, M. Dawn Teare, Gerry A. Coles, David Griffiths, David Ravine, PA Futreal, Nazneen Rahman   +7 more
openalex   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, EarlyView.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source