Results 201 to 210 of about 22,467,747 (285)

Causal subgroups and declining rates of cerebral palsy in Victoria, Australia

Developmental Medicine &Child Neurology, EarlyView.
In this population‐based study, the main contributors to declining rates of cerebral palsy in Victoria, Australia, were causal subgroups involving presumed perinatal brain insults in neonates born preterm and at term requiring higher nursery care.
Susan M. Reid, Gina L. Hinwood, Angela T. Guzys, Rod W. Hunt, Dinah S. Reddihough   +4 more
wiley   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

SKY92 Identifies High‐Risk Newly Diagnosed Multiple Myeloma With Inferior Progression‐Free Survival and Implicates NUF2 as a Candidate Driver

European Journal of Haematology, EarlyView.
ABSTRACT Objectives To determine the prevalence and prognostic significance of the SKY92 gene‐expression signature, evaluate minimal/measurable residual disease (MRD), and identify molecular drivers of high‐risk disease in transplant‐eligible newly diagnosed multiple myeloma (TE‐NDMM) patients in the Republic of Ireland.
Roisin M. McAvera, Izabela Cymer, John Quinn, Phillip T. Murphy, Patrick Thornton, Niamh McAuley, Harmony Black, Omar Abdelzaher, Catherine Duane, Tatiana Cichocka, Eva Szegezdi, Meegahage Perera, Gerard M. Crotty, Michelle Connolly, Aileen Walsh, Ruth Clifford, Janusz Krawczyk, Teresa Meenaghan, Vitaliy Mykytiv, Ezzat Elhassadi, Mark Coyne, Robert J. Cummins, Rowan Kuiper, Michael O'Dwyer, Siobhan V. Glavey   +24 more
wiley   +1 more source

A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray Testing. [PDF]

Case Rep Genet
Haines KM, Hazard DM, Carstens B, Brzeskiewicz PM, Gilfillan TM, Nijmeh H, Perez-Gill C, Stoecker M, Rajabi F, Haag MM, Wicks SJ.   +10 more
europepmc   +1 more source

UK recommendations for Ki‐67 immunohistochemical staining and interpretation in breast cancer

Histopathology, EarlyView.
Where possible, a validated digital imaging system should be utilized. If this is not available, then intermediate scores (5%–30%) should be thoroughly assessed using the Ki‐67 International Working Group guidance. Difficult cases should be double scored.
Abeer M Shaaban, Andrew Dodson, Emad Rakha, Ian Ellis, Daniel Rea, Cecily Quinn, Elena Provenzano, Sarah Pinder, on behalf of the UK National Coordinating Committee for Breast Pathology (NCCBP), Association of Breast Pathology (ABP) and the UK National External Quality Assessment Scheme for Immunohistochemistry and In Situ Hybridisation (UK NEQAS ICC & ISH)   +9 more
wiley   +1 more source

Mosaic Trisomy 14 with Severe Short Stature: A Case Report. [PDF]

Genes (Basel)
Yin C, Ye J, Hou L, Luo X.
europepmc   +1 more source

Interleukin‐12: Central Roles in Immune Regulation and Disease Therapy

Immunology &Cell Biology, EarlyView.
IL‐12 levels are tightly regulated to balance effective protective immunity against infections and cancer with the risk of excessive inflammation and autoimmune disease. Both insufficient and excessive IL‐12 activity can therefore be detrimental, highlighting the importance of precisely controlling its production and signaling. ABSTRACT Interleukin‐12 (
Anthi Psoma, Geert van den Bogaart
wiley   +1 more source

Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bp <i>ATP7B</i> Splice-Junction Deletion. [PDF]

Diagnostics (Basel)
Hnoonual A, Pongborriboon D, Wansom N, Kietsiriroje N, Plong-On O, Limprasert P.   +5 more
europepmc   +1 more source

Childhood internalising symptoms at ages 3 and 6: a meta‐analysis of epigenome‐wide associations from cord and peripheral blood

Journal of Child Psychology and Psychiatry, EarlyView.
Background Pre‐ and postpartum environments and genetic effects influence childhood internalising problems, which increase depression risk. DNA methylation (DNAm) may capture some of these effects. We therefore investigated associations between child blood DNAm and internalising problems.
Laura Schellhas, Mannan Luo, Janine F. Felix, Christian M. Page, Mona Bekkhus, Marcus R. Munafò, Luisa Zuccolo, Alexandra Havdahl, Charlotte A.M. Cecil, Gemma C. Sharp   +9 more
wiley   +1 more source

slideimp: efficient imputation of DNA methylation data. [PDF]

Bioinformatics
Pham H, Lombroso AP, Cevik EC, Taylor HS, O'Donnell KJ.   +4 more
europepmc   +1 more source