Results 171 to 180 of about 36,869 (295)

False Positive or False Negative-An Interesting Case in Prenatal Diagnostic Laboratory. [PDF]

J Clin Lab Anal
Zhang P, Sun Y, Tian H, Shi X, Rong L, Li Y.   +5 more
europepmc   +1 more source

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Klinefelter Syndrome Identified by Next-generation Sequencing as a Risk Factor for Venous Thromboembolism: A Single-institution Study. [PDF]

Ann Lab Med
Kim HY, Lee JJ, Park MS, Park CH, Park TK, Chang SA, Kim HJ.   +6 more
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Solving Riddles Through Sequencing (SIRIUS): unlocking hematologic diagnoses by whole genome and transcriptome sequencing. [PDF]

Leukemia
Truger M, Meggendorfer M, Walter W, Hutter S, Alsdorf W, Massenkeil G, Martens UM, Kern W, Hörst K, Kühn C, Reiter A, Hochhaus A, Haferlach T.   +12 more
europepmc   +1 more source

Treatment of pediatric epilepsy

Pediatric Investigation, EarlyView.
Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li, Tinghong Liu, Chang Liu, Jie Deng, Shijie Wu, Suhui Kuang, Xiaotong Li, Zhirong Wei, Shuli Liang   +8 more
wiley   +1 more source

Recurrent genetic alterations in epigenetically defined pineoblastoma subtypes. [PDF]

Acta Neuropathol Commun
Goschzik T, Yuan M, Pfaff E, Müller MEB, Mynarek M, Dörner E, Jones DTW, Pfister SM, Rutkowski S, Pietsch T.   +9 more
europepmc   +1 more source

Evaluation of Loss of the Y Chromosome in Peripheral Blood as a Biomarker for Prostate Cancer

The Prostate, EarlyView.
ABSTRACT Background Prostate cancer (PCa) is the most common malignant tumor in men, but the widely used prostate‐specific antigen (PSA) test has limited diagnostic accuracy. Research proposes that the loss of the Y chromosome (LOY) may affect the occurrence and development of prostate cancer, aiming to assess its potential as a diagnostic biomarker to
Jun Lu, Yan Lu, Takuro Kobayashi, Tsuyoshi Hachiya, Haruhiko Wakita, Yiming Jin, Yasunari Tanaka, Yoshihiro Ikehata, Masayoshi Nagata, Hisamitsu Ide, Shigeo Horie   +10 more
wiley   +1 more source

Molecular Features Associated with a High-Risk Clinical Course in Neuroblastomas Initially Diagnosed as Non-High-Risk. [PDF]

Cancers (Basel)
Bruinsma RS, de Leng WWJ, Fiocco MF, Dierselhuis MP, Langenberg KP, Molenaar JJ, Kester LA, van Noesel MM, Tytgat GAM, van de Ven CP, Wijnen MHWA, de Krijger RR, Steeg AFWV.   +12 more
europepmc   +1 more source

Towards a cumultative biological dosimeter based on chromosome painting and digital image analysis [PDF]

, 1990
Cremer, Christoph, Cremer, Thomas, Hausmann, Michael, Lührs, H., Popp, Susanne, Remm, B., van Kaick, G.   +6 more
core   +1 more source