Results 191 to 200 of about 317,190 (282)

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies. [PDF]

Front Genet
Wu Y, Chen G, Yang F, Liu X, Qiang Y, Wu R, Liu F, Cheng W, Yuan J.   +8 more
europepmc   +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

Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies. [PDF]

Front Med (Lausanne)
Yin J, Zhang X, Wang Q, Cao Q, Ou H, Zhao Z, Xu S, Wang J, Xia L, Zhang B, Xiao X, Luo T, Wang X.   +12 more
europepmc   +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

Application of chromosomal microarray analysis and trio whole-exome sequencing in first-trimester prenatal diagnosis for high-risk pregnancies. [PDF]

BMC Pregnancy Childbirth
Zhang Q, Cheng Y, Tang J, Li J, Cao Y, Huang D, Wang S, Zhu J.   +7 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

Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis. [PDF]

Front Genet
Huang S, Wu H, She L, Liu L.
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

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT. [PDF]

Genes (Basel)
Iordanescu II, Catana A, Barabas Cuzmici Z, Chelu P, Basangiu BF, Severin E, Militaru MS.   +6 more
europepmc   +1 more source