Results 321 to 330 of about 779,387 (379)

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking   +6 more
wiley   +1 more source

Genome-wide methylome modeling via generative AI incorporating long- and short-range interactions. [PDF]

open access: yesSci Adv
Yan F   +12 more
europepmc   +1 more source

Growth Charts for Children With Beckwith–Wiedemann Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas   +11 more
wiley   +1 more source

Regulation of nc886 (vtRNA2-1) RNAs is associated with cardiometabolic risk factors and diseases. [PDF]

open access: yesClin Epigenetics
Rajić S   +23 more
europepmc   +1 more source

Role of DNA Methylation in the Pathogenesis of Skin Disorders: Mechanisms, Inhibitors of Methylation-Related Enzyme, and Molecular Docking Studies. [PDF]

open access: yesBiomed Res Int
Rani A   +9 more
europepmc   +1 more source

TAS2R38 gene methylation is associated with syndrome Coronavirus 2 (SARS-CoV-2) infection and clinical symptoms. [PDF]

open access: yesSci Rep
Melis M   +14 more
europepmc   +1 more source

Role of m5C methylation in digestive system tumors (Review). [PDF]

open access: yesMol Med Rep
Zhang L   +6 more
europepmc   +1 more source

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