Results 111 to 120 of about 58,780 (225)
Epigenotype–phenotype correlations in Silver–Russell syndrome [PDF]
Journal of Medical Genetics, 2010 Background Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are found in 5–
Wakeling, E.L. +18 more
openaire +5 more sources
Advanced Materials, Volume 38, Issue 15, 12 March 2026.To enhance stability and long‐term biocompatibility of wearable microneedle sensors, a crosslinking‐recombination bovine serum albumin material is used as a buffer layer coated on microneedle sensors. This coating layer possesses a unique stiff‐to‐soft transition function balancing the mechanical stiffness desired for puncturing and soft required for ...
Lihao Guo +16 more
wiley +1 more source
Clinical &Translational Immunology, Volume 15, Issue 3, 2026.Depicts the pathways and mechanisms of the drug. Abstract Objectives Aicardi–Goutières syndrome (AGS) is a rare genetic interferonopathy because of aberrant DNA or RNA metabolism that lacks effective disease modifying therapies. Methods Single‐cell RNA sequencing was performed on peripheral blood mononuclear cells (PBMCs) obtained from a patient with ...
Velda X Han +12 more
wiley +1 more source
Science Education, Volume 110, Issue 2, Page 459-478, March 2026.ABSTRACT Undergraduate research experience programs can provide students with significant opportunities to engage in research and further develop scientist identities. Grounded in theoretical frames of identity compatibility, interactionist approach, and intersectionality we present findings from an undergraduate research experience program ...
Ann Y. Kim +2 more
wiley +1 more source
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
Journal of Clinical Endocrinology and Metabolism, 2020 Background (Epi)genetic disorders associated with small-for-gestational-age with short stature (SGA-SS) include imprinting disorders (IDs). Silver-Russell syndrome (SRS) is a representative ID in SGA-SS and has heterogenous (epi)genetic causes.
T. Fuke +10 more
semanticscholar +1 more source
Journal of Forensic Sciences, Volume 71, Issue 2, Page 1050-1057, March 2026.Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil +3 more
wiley +1 more source
Ageing Through the Looking‐Glass: The Different Flavours of Clonal Haematopoiesis
Aging Cell, Volume 25, Issue 3, March 2026.Different forms of CH share common germline and environmental risk factors and have overlapping prevalence and disease associations, suggesting common underlying ageing processes. We explore intersections of different forms of CH, clinical implications of these, and how this enhances our understanding of the biology of ageing.
Jasmine Singh +4 more
wiley +1 more source
Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy
Indian Journal of Endocrinology and Metabolism, 2012 A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and ...
J V Mascarenhas, Vageesh S Ayyar
doaj +1 more source
Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy [PDF]
, 2015 BACKGROUND: Long contiguous stretches of homozygosity (LCSH) (regions/runs of homozygosity) are repeatedly detected by single-nucleotide polymorphism (SNP) chromosomal microarrays. Providing important clues regarding parental relatedness (consanguinity),
Ivan Y. Iourov +4 more
core +1 more source
Experimental Physiology, Volume 111, Issue 3, Page 1165-1180, 1 March 2026.Abstract We evaluated the feasibility and efficacy of a 2‐week training programme comprising resistance vibration exercise (RVE) without and with artificial gravity (AG). Participants (n = 24) were divided into three groups: (i) URVE: upright loaded squat exercise; (ii) HRVE: horizontal loaded squat exercise; and (iii) AGRVE: loaded squat exercise ...
Igor B. Mekjavic +9 more
wiley +1 more source