Results 251 to 260 of about 443,290 (339)

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

Epigenetics factors in schizophrenia: future directions for etiologic and therapeutic study approaches. [PDF]

Ann Gen Psychiatry
Yang H, Sun W, Li J, Zhang X.
europepmc   +1 more source

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

American 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, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

DNA Methylation Patterns and Transcriptomic Data Were Integrated to Investigate Candidate Genes Influencing Reproductive Traits in Ovarian Tissue from Sichuan White Geese. [PDF]

Int J Mol Sci
Ma L, Zhao X, Wang H, Chen Z, Zhang K, Xue J, Luo Y, Liu H, Jiang X, Wang J, Ma X, Mao F, Zhong Y, Liu Y, Deng R, Zhou Y, Wang C, Xie Y, Chen Y, Wang Q, Gao G.   +20 more
europepmc   +1 more source

Growth Charts for Children With Beckwith–Wiedemann Spectrum

American 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, Peter Lauffer, Guido Cocchi, Madison DeMarchis, Andrew M. George, Alessandro Mussa, Francesco Pellegrino, Alexander M. J. Spaans, Emma C. van den Brink, Jan M. Wit, Leonie A. Menke, Jennifer M. Kalish   +11 more
wiley   +1 more source

DNA Methylation Patterns Provide Insights into the Epigenetic Regulation of Intersex Formation in the Chinese Mitten Crab (<i>Eriocheir sinensis</i>). [PDF]

Int J Mol Sci
Fang SJ, Shao SC, Ni MQ, Yang YN, Cui ZX.   +4 more
europepmc   +1 more source

Potential New Expression Biomarkers for Anorexia Nervosa

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta‐analysis of genome‐wide association studies on AN identified independent risk‐conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated.
Camille Verebi, Nicolas Lebrun, Justine Vily Petit, Odile Viltart, Philibert Duriez, Benjamin Saint‐Pierre, Philip Gorwood, Nicolas Ramoz, Thierry Bienvenu   +8 more
wiley   +1 more source

Dynamic Alterations in DNA Methylation of CD4⁺ T Cells and Macrophages in a Murine Model of Tuberculous Pleural Infection Induced by BCG Vaccination. [PDF]

MedComm (2020)
Shao MM, Chen QY, Zhang X, Dong SF, Wei RQ, Shi HZ, Yi FS.   +6 more
europepmc   +1 more source

Do Influential Articles on the Genetics of Autism Show Evidence of Engagement With the Autistic Community?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Investigations into the etiology and genetic basis of autism continue to drive much autism research, yet reports are emerging of this research not aligning with priorities of autistic people. Engagement of autistic people in the research process is a key way to take their perspectives on board.
Heidi Kristiina Kaljusto, Emma Wilson, Sue Fletcher‐Watson   +2 more
wiley   +1 more source

Use of DNA methylation patterns for early detection and management of lung cancer: Are we there yet? [PDF]

Oncol Res
Milica K, Filip M.
europepmc   +1 more source