Results 71 to 80 of about 113,273 (245)

Xietu Hemu Prescription Improves Metabolic Dysfunction-Associated Steatotic Liver Disease: A Real-World Cohort Study

Journal of Multidisciplinary Healthcare
Liu-lan Xiang,1,2,* Yu-tian Cao,1,2,* Xiao-xiao Wang,3,* Gao-xiang Wang,1,* Yu-juan Zhang,4 Rui-han Li,1,2 Fang Qi,5 Jia-xuan Huai,1,2 Jing Sun,1,2 Xiao-jin He,3 Xi-qiao Zhou1 1Department of Endocrinology, Affiliated ...
Xiang LL, Cao YT, Wang XX, Wang GX, Zhang YJ, Li RH, Qi F, Huai JX, Sun J, He XJ, Zhou XQ   +10 more
doaj  

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

Febuxostat Improves Postprandial Glucose Regulation and Insulin Sensitivity in Hyperuricemic Individuals with Prediabetes or Newly Diagnosed Type 2 Diabetes: A Prospective Cohort Study

Drug Design, Development and Therapy
Shuang Liu,1,* Qingsong Liu,2,* Ronger Gu,1 Mian Wu,3 Shuo Meng,1 Le Yan,1 Qi Chen,1 Cuiling Zhu,1 Si Chen,4 Bei Xu,1,* Fengjing Liu,4,* Haibing Chen1,* 1Department of Endocrinology and Metabolism, Shanghai Tenth ...
Liu S, Liu Q, Gu R, Wu M, Meng S, Yan L, Chen Q, Zhu C, Chen S, Xu B, Liu F, Chen H   +11 more
doaj  

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

MHS status and salivary cortisol concentration in individually housed pigs

Acta Agriculturae Slovenica, 2006
Salivary cortisol was evaluated as stress measure in pigs of two malignant hyperthermia (MH) genotypes (NN and Nn), housed individually in metabolic cages and in comfortable large pens with straw.
Nataša SIARD, Ivan ŠTUHEC
doaj   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Experimental Investigations in the Endocrinology of Schizophrenia [PDF]

, 1948
R. E. Hemphill, М. Reiss
openalex   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM [PDF]

, 1953
E. P. McCULLAGH
openalex   +1 more source