Results 201 to 210 of about 29,886 (297)

Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women. [PDF]

Mol Cytogenet, 2019
Lee D, Na S, Park S, Go S, Ma J, Yang S, Kim K, Lee S, Hwang D.   +8 more
europepmc   +1 more source

Next‐generation sequencing‐based IG clonality analysis to discriminate reactive infiltrates from minimal lymphoma involvement in paired lymphoma and bone marrow biopsies; a EuroClonality‐NGS Working Group study

Histopathology, EarlyView.
Next‐generation sequencing (NGS) immunoglobulin clonality analysis can help resolve ambiguous bone marrow staging biopsies for B‐cell lymphoma. In this study, paired analysis of the primary lymphoma and bone marrow helped to detect lymphoma involvement in cases with inconclusive morphology and immunohistochemistry, making it a valuable tool for ...
Michiel van den Brand, Meilinde Leenders, Jos Rijntjes, Jeroen A.C.W. Luijks, Anton W. Langerak, Konnie M. Hebeda, Patricia J.T.A. Groenen   +6 more
wiley   +1 more source

Identification of a False-positive Multiplex Ligationdependent Probe Amplification Result in <i>BRCA1</i> Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay. [PDF]

Ann Lab Med
Concolino P, De Paolis E, Rinelli M, Maneri G, Brisighelli F, Trozzi R, Duranti S, Giacò L, Piane M, Preziosi A, Panfili A, Scambia G, Nero C, De Bonis M, Minucci A.   +14 more
europepmc   +1 more source

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case series. [PDF]

Medicine (Baltimore), 2019
Long X, Li Z, Huang Y, Zhang L, Lv W, Teng Y, Linpeng S, Liang D, Wu L.   +8 more
europepmc   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing. [PDF]

Front Pharmacol, 2019
Wang D, Gao M, Zhang K, Jin R, Lv Y, Liu Y, Ma J, Wan Y, Gai Z, Liu Y.   +9 more
europepmc   +1 more source

Systemic, Lifestyle and Environmental Modifying Factors in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
A variety of impacting factors in the pathogenesis of periodontitis exist, including systemic, lifestyle, and environmental factors. This review highlights the manifold mechanistic aspects of the link between the pathogenesis of periodontitis, addressing these numerous factors to supplement the long‐standing knowledge of the progression of the disease.
Groeger Sabine Elisabeth, Zhou Yuxi, Yong Jiawen, Wang Lei, Ruf Sabine, Meyle Joerg   +5 more
wiley   +1 more source

Rapid Identification of Key Copy Number Alterations in B- and T-Cell Acute Lymphoblastic Leukemia by Digital Multiplex Ligation-Dependent Probe Amplification. [PDF]

Front Oncol, 2019
Thakral D, Kaur G, Gupta R, Benard-Slagter A, Savola S, Kumar I, Anand R, Rani L, Verma P, Joshi S, Kumar L, Sharma A, Bakhshi S, Seth R, Singh V.   +14 more
europepmc   +1 more source

A Fungal Cysteine‐Rich Protein SsSCP Activates Immune Responses and Confers Broad‐Spectrum Disease Resistance in Tomato

Plant Biotechnology Journal, EarlyView.
ABSTRACT Plant immune systems recognise pathogen‐derived molecular patterns to activate defence responses, yet the mechanisms underlying fungal pattern recognition in crops remain largely unclear. Here, we characterise the cysteine‐rich secretory protein SsSCP from the broad‐host‐range fungal pathogen Sclerotinia sclerotiorum as a potent elicitor of ...
Liyuan Zhang, Yuan Wang, Yuhang Liu, Jinwen Yang, Kaihao Zhang, Chengzhang Du, Jiajing Xiao, Ling Qing, Xinhua Sun   +8 more
wiley   +1 more source

Trans‐QTL Alliance of HKT1 and PHL7 Modulate Salinity Stress Tolerance and Enhance Crop Yield Endurance

Plant Biotechnology Journal, EarlyView.
ABSTRACT Salinity stress can cause significant yield losses in crops because of its major impact on reproductive success. The complexity of salinity stress responses, particularly their tissue‐ and cell‐specific regulation, continues to challenge the translation of molecular insights into tangible crop yield improvements.
Jitendra K. Mohanty, Antima Yadav, Laxmi Narnoliya, Virevol Thakro, Deepanshi Rathore, Shailesh Tripathi, Senjuti Sinharoy, Pinky Agarwal, Swarup K. Parida   +8 more
wiley   +1 more source