American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong +4 more
wiley +1 more source
Navigating the complexities of dual CNV findings: a case of DEE7 caused by a <i>de novo KCNQ2</i> deletion and a Co-occurring chromosome 13 duplication - a case report and literature review. [PDF]
Front PediatrQi Y +6 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang +3 more
wiley +1 more source
Case Report: Severe neonatal lupus in an infant with homozygous <i>NCF1</i> p.Arg90His variant and a <i>der</i>(14)<i>t</i>(4;14) translocation. [PDF]
Front ImmunolYu X, Lou J, Zhong Y, Zhang L.
europepmc +1 more source
Co-Occurring Genetic Mutations in Rett Syndrome and <i>MECP2</i>-Related Disorders-Clinical and Diagnostic Implications from a Case Series. [PDF]
Genes (Basel)Singh J, Chishti S, Santosh P.
europepmc +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Morphogen Gradients as Drivers of Mosaicism During Early Human Development. [PDF]
BioessaysAcebrón SP +3 more
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
MAGEB16 as an epigenetic timing regulator linking X-chromosome biology to neurodevelopmental vulnerability in Autism Spectrum Disorder. [PDF]
EXCLI JGaspar JA, Dhandapani KM, Hess DC.
europepmc +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source