Results 231 to 240 of about 134,576 (312)

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Spinal muscular atrophy in Brazil: from individual treatment to global management. [PDF]

J Pediatr (Rio J)
Servais L, Moreno CAM.
europepmc   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy. [PDF]

BMC Biotechnol
Wijaya YOS, Ar Rochmah M, Nurputra DK, Farmawati A.   +3 more
europepmc   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Fertility Outcomes in Risdiplam-Treated Male Patients with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Adv Ther
Coskery S, Erdler M, Frey MR, Lopez MA.
europepmc   +1 more source

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

Animal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie, Zemao Huang, Ziyang Huang, Deqing Luo, Zhangxin Chen, Li Xie, Lingqi Zhu, Hui Liu, Kejian Lian, Paolo Alberton, Denitsa Docheva, Dasheng Lin   +11 more
wiley   +1 more source

Operative treatment of severe scoliosis and pelvic obliquity in patients with spinal muscular atrophy: assessment of outcomes and complications. [PDF]

Orphanet J Rare Dis
Sun H, Huang Y, Dong Y, Wang Z, Zhao J, Huang X, Chen W, Shen J.   +7 more
europepmc   +1 more source

Rapid severe hypertension and organ damage in two‐kidney two‐clip rats produced by different sizes of clips

Animal Models and Experimental Medicine, EarlyView.
Blood pressure increases immediately when the 2K2C rats (made with 0.3, 0.25, and 0.2 mm U‐shaped clips) regain consciousness from anesthesia. 100% of the rats develop hypertension on the day of 2K2C surgery. Blood pressure continues to rise, resulting in severe hypertension and organ damage to the brain, heart, aorta, and kidneys at 1, 2, 4, and 6 ...
Jia‐Sheng Tian, Qi‐Sheng Ling, Yu‐Chen Wei, Dao‐Xin Wang, Chao‐Yu Miao   +4 more
wiley   +1 more source

Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy. [PDF]

J Neurol
Shi T, Zhou Z, Xiang T, Suo Y, Shi X, Li Y, Zhang P, Dai J, Sheng L.   +8 more
europepmc   +1 more source