Results 171 to 180 of about 35,482 (247)

How the First 9 Months Shape the Rest of Your Life: The Impact of Gestational Diabetes on the Metabolic Future

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Gestational diabetes mellitus (GDM) represents far more than a transient glycaemic disorder: it is a sentinel metabolic event that unveils pre‐existing defects in β‐cell function and insulin action, with profound implications for both maternal and offspring cardiometabolic health across the lifespan.
Mustafa Kanat, Muhammad Abdul‐Ghani, Ralph A. DeFronzo   +2 more
wiley   +1 more source

Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings. [PDF]

J Hum Genet
Magee K, McGonigle W, Pressman R, Thorson W, Barbouth D, Borja NA.   +5 more
europepmc   +1 more source

Project Sickle Cure: A Prospective, International Observational Study of Hematopoietic Cell Transplantation for Sickle Cell Disease

European Journal of Haematology, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic and life‐limiting hemoglobin and systemic vascular disease. While over 1000 people have undergone hematopoietic cell transplantation (HCT) over the last 40 years, long‐term disease‐specific and health‐related quality of life data are lacking.
Gregory M. T. Guilcher, Allistair Abraham, Staci D. Arnold, Christine Camacho‐Bydume, Jenny Duong, Scott Gillespie, Ann Haight, Monica L. Hulbert, Naresh Kumar, Katie Liu, Cherry Mammen, Aleksandra Mineyko, Abra Morgan, Alexander Ngwube, Robert S. Nickel, Araby Roberts, Fiona Schulte, Stephen Sands, Akshay Sharma, John T. Horan, Elizabeth O. Stenger   +20 more
wiley   +1 more source

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples. [PDF]

Clin Transl Med
Ding X, Jiang M, Hu Q, Tong R, Wang L, Lv J, Pan L, Hou J, He J, Zhou P.   +9 more
europepmc   +1 more source

Bringing Gene Therapy Into Real World Clinical Practice

Haemophilia, EarlyView.
ABSTRACT Introduction Adeno‐associated virus (AAV)‐based gene therapy for haemophilia has shifted therapeutic paradigms by enabling hepatic gene transfer, restoring endogenous clotting factor expression, and reducing reliance on conventional prophylactic treatments. Two products, valoctocogene roxaparvovec (haemophilia A) and etranacogene dezaparvovec (
Wolfgang Miesbach, Pratima Chowdary, Margareth C. Ozelo   +2 more
wiley   +1 more source

Advancing Non-Invasive Prenatal Screening: A Targeted 1069-Gene Panel for Comprehensive Detection of Monogenic Disorders and Copy Number Variations. [PDF]

Genes (Basel)
Sirica R, Ottaiano A, D'Amore L, Ianniello M, Petrillo N, Ruggiero R, Castiello R, Mori A, Evangelista E, De Falco L, Santorsola M, Misasi M, Savarese G, Fico A.   +13 more
europepmc   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Lessons from clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
Fuki Marie Hisama
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense. [PDF]

Biomolecules
Grüning NM, Ralser M.
europepmc   +1 more source