Results 251 to 260 of about 1,639,589 (408)

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB. [PDF]

Sci Rep
Fernández-Caballero L, Blanco-Kelly F, Swafiri ST, Martín-Mérida MI, Quinodoz M, Ullah M, Carreño E, Martin-Gutierrez MP, García-Sandoval B, Minguez P, Rivolta C, Corton M, Ayuso C.   +12 more
europepmc   +1 more source

Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. [PDF]

, 1992
Gregory M. Pastores, Virginia V. Michels, Daniel J. Schaid, David J. Driscoll, Robert Feldt, Stephen N. Thibodeau   +5 more
openalex   +1 more source

Autosomal dominant polycystic kidney

Pan African Medical Journal, 2022
Gudadhe, Rugaved Raghavendra, Sawarkar, Gaurav Rajendra   +1 more
openaire   +2 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Subtotal Lipodystrophy with Autosomal Dominant Inheritance [PDF]

, 1993
June K. Lloyd, P I Mansell, J.P.D. Reckless   +2 more
openalex   +1 more source

Prenatal Diagnosis and Prognostic Factors in Fetuses With Arthrogryposis Multiplex Congenita—A Systematic Review

Journal of Clinical Ultrasound, EarlyView.
Arthrogryposis Multiplex Congenita (AMC) is characterized by the presence of multiple joint contractures in the fetus' body. The diagnosis of arthrogryposis is complex and often missed prenatally. This comprehensive review of the literature published over the last 20 years, with an emphasis on the role of prenatal ultrasound in predicting postnatal ...
Mario Brock Leao, Marianna Facchinetti Brock, Jorge Roberto Di Tommaso Leao, Gianpaolo Grisolia, Mario Lituania, Samantha Erin Neumann, Gabriele Tonni, Rodrigo Ruano   +7 more
wiley   +1 more source

Sex differences in the executive and behavioral reserve of autosomal dominant frontotemporal dementia. [PDF]

Alzheimers Dement
Garcia Castro J, Rubio-Guerra S, Casaletto KB, Selma González J, Memel M, Vaqué-Alcázar L, Morcillo-Nieto A, Arriola-Infante J, Dols-Icardo O, Bejanin A, Belbin O, Fortea J, Alcolea D, Carmona-Iragui M, Barroeta I, Santos-Santos M, Sánchez Saudinós MB, Sala Matavera I, Heuer HW, Forsberg LK, Kantarci K, Staffaroni AM, Tartaglia C, Rankin KP, Boeve B, Boxer A, Rosen HJ, Lleó A, Illán-Gala I, ALLFTD Consortium.   +29 more
europepmc   +1 more source

Diverticular disease in the colon in hemodialysis patients due to autosomal dominant polycystic kidney disease

, 1989
Yoshio Suzuki, Hiroyuki Sakurai, Hajime Hasegawa, Takayoshi Yanagisawa, Hirosi Tsuji, Keihachirou Kuzuhara, Shigeko Hara, Y Ogura, O Otsubo, Nobuhide Mimura   +9 more
openalex   +2 more sources

Epidermolysis bullosa for primary care providers: A practical review

Journal of General and Family Medicine, EarlyView.
Abstract Epidermolysis bullosa (EB) is a group of genetic skin diseases, which manifest as fragile skin and blistering in addition to many extracutaneous conditions. Pediatricians and primary care providers play an integral role in managing these patients with multifaceted care needs.
Kennedy Sparling, Judith O'Haver, Muayad Shahin, Amanda Damon, Nichole Halliburton, Kellie Badger, Mariam Iqneibi, Beth Moeves, Harper N. Price, Emily S. Gorell   +9 more
wiley   +1 more source