Results 221 to 230 of about 640,355 (344)

Editorial: Genetics and Genomics of Polyploid Plants. [PDF]

Genes (Basel)
D'Agostino N, Fasano C.
europepmc   +1 more source

Genetics and Genomics of Congenital Heart Disease.

Circulation Research, 2017
Samir Zaidi, M. Brueckner
semanticscholar   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Eleven Grand Challenges for Inflammatory Bowel Disease Genetics and Genomics. [PDF]

Inflamm Bowel Dis
Gibson G, Rioux JD, Cho JH, Haritunians T, Thoutam A, Abreu MT, Brant SR, Kugathasan S, McCauley JL, Silverberg M, McGovern D.   +10 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Baker EK, Derry A, Cohen JL, Chang IJ, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Genetics in Medicine, 2016
A. Gregg, B. Skotko, J. Benkendorf, K. Monaghan, K. Bajaj, R. Best, S. Klugman, M. Watson   +7 more
semanticscholar   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Ngeow J, Chiang J, Astiazaran-Symonds E, Balmaña J, Cass I, Kommoss FKF, Foulkes WD, James PA, Katcher A, Klugman S, Livinski AA, Mak JS, Voian N, Wick MJ, Tischkowitz M, Pal T, Stewart DR, Hanson H, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net.   +18 more
europepmc   +1 more source

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt, Marius Ygonia, Ali Manouchehrinia, Philippe Lefrançois, Ingrid Kockum, Adil Harroud   +5 more
wiley   +1 more source