Results 191 to 200 of about 164,747 (253)

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

The Role of Radioligand Therapy in Gastroenteropancreatic Neuroendocrine Tumors: An Italian Expert Opinion. [PDF]

Adv Ther
Tafuto S, Lastoria S, Panzuto F, Antonuzzo L, Campana D, Cingarlini S, Cives M, Ferone D, Filice A, Giuffrida D, Maccauro M, Partelli S, Fazio N.   +12 more
europepmc   +1 more source

Introducing AI & Innovation

AI &Innovation, EarlyView.
Mirko Farina, Xiao Yu, Rongrong Ji, Chen Jin, Vincent Blok, Paolo Ciancarini, Ngcaweni Busani, Witold Pedrycz   +7 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Expert Opinion of Empagliflozin Positioning in the Current Type 2 Diabetes Mellitus (T2DM) Landscape in Indian Patients. [PDF]

Cureus
Sethi B, Mehta A, Dasgupta A, Chawla M, Deka N, Agarwal N, Mazumder C, Ghosh I, Gala V, Muchhala S, Sonkar A.   +10 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Expert opinion survey on diagnostic and treatment-planning gaps in orthodontics among dental interns: Validation of the need for a MOOC-based educational intervention. [PDF]

Bioinformation
Mahobia T, Daigavane P, Khandelwal P, Thakur RPS, Parakh S, Yadav N.   +5 more
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Timing is everything: Expert opinion on researching epilepsy rhythms by the ILAE Task Force on Chronobiology. [PDF]

Epilepsia
Baud MO, Bernard C, Frauscher B, Karoly PJ, Rao VR.   +4 more
europepmc   +1 more source

Expert Opinion Statement on Continuous Glucose Monitoring in Type 2 Diabetes in the Arab Gulf Region. [PDF]

J Diabetes Sci Technol
Alshaikh A, Bakhsh A, Al-Sagheir A, El-Laboudi A, Al-Mohanadi D, Awadi FA, Elbadawi H, Alzubaidi L, Al-Sofiani ME, Farooqi MH, Aldahash R, Alamoudi R, Alsifri S, Almehthel M.   +13 more
europepmc   +1 more source