Results 231 to 240 of about 654,837 (328)

Genome-wide functional annotation of variants: a systematic review of state-of-the-art tools, techniques and resources. [PDF]

Front Pharmacol
Pilalis E, Zisis D, Andrinopoulou C, Karamanidou T, Antonara M, Stavropoulos TG, Chatziioannou A.   +6 more
europepmc   +1 more source

JACMP 2020–2024

Journal of Applied Clinical Medical Physics, EarlyView.
Susan L. Richardson
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family. [PDF]

Mol Cytogenet
Zhang F, Liao G, Wen X, Zhang C.
europepmc   +1 more source

High‐Fat and Low‐Carbohydrate Dietary Environments Are Linked to Reduced Idiopathic Epilepsy Incidence and Prevalence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dietary manipulations like ketogenic diets are established interventions for recalcitrant epilepsy. However, it remains unknown whether specific macronutrient exposure through dietary environments could possibly extend to primary preventive qualities, associated with changes in epilepsy disease burden (prevalence and incidence).
Duan Ni, Alistair Senior, David Raubenheimer, Stephen J. Simpson, Ralph Nanan   +4 more
wiley   +1 more source

Assessing the performance of generative artificial intelligence in retrieving information against manually curated genetic and genomic data. [PDF]

Database (Oxford)
Poretsky E, Blake VC, Andorf CM, Sen TZ.
europepmc   +1 more source

Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley   +1 more source

Investigative genetic genealogy practices warranting policy attention: Results of a modified policy Delphi. [PDF]

PLoS Genet
Guerrini CJ, Kalokairinou L, Robinson JO, Bash Brooks W, Fullerton SM, Huston S, Dahlquist J, Madden D, Crossnohere N, Campoamor N, Bridges JFP, McGuire AL.   +11 more
europepmc   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review. [PDF]

BMC Med Genomics
Younes S, Elkahlout R, Kilani H, Okashah S, Sharshani HA, Rezoug Z, Zayed H, Al-Dewik N.   +7 more
europepmc   +1 more source