Results 241 to 250 of about 2,747,199 (303)

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source

Ultrasound findings associated with neonatal acute liver failure secondary to gestational alloimmune liver disease: A case series

JPGN Reports, EarlyView.
Abstract Objectives Gestational alloimmune liver disease is the leading cause of neonatal acute liver failure, hypothesized to emerge from maternal exposure to an antigen that is expressed on fetal hepatocytes, resulting in maternal‐fetal alloimmune attack and activation of the complement cascade.
Naseem Ravanbakhsh, Ashley M. Upton, Chun‐Sing Huang, Nhu Thao N. Galván, John Goss, Sanjiv Harpavat, Jose A. Hernandez   +6 more
wiley   +1 more source

Expanding prenatal diagnosis: clinical utility of prenatal whole-exome sequencing in a Romanian case series with fetal anomalies. [PDF]

J Med Life
Manea-Săbău ID, Nenciu AE, Varlas VN, Curici A, Riza M, Mitroi M, Radu RM, Suciu-Lazar V, Ceaușu I.   +8 more
europepmc   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort. [PDF]

Hum Genet
Szalai R, Till A, Galimurka K, Banfai Z, Zsigmond A, Hadzsiev K.   +5 more
europepmc   +1 more source

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies. [PDF]

Int J Mol Sci
Kamlungkuea T, Tongprasert F, Wattanasirichaigoon D, Kumfu S, Chattipakorn SC, Chattipakorn N, Tongsong T.   +6 more
europepmc   +1 more source

Response to the letter regarding "Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis". [PDF]

Kidney Res Clin Pract
Oh J, Lee K, Won D, Lee YM, Shin JI.
europepmc   +1 more source

A Whole Exome Sequencing and Targeted Gene Panel Approach to Identify Rare Etiologies of Pediatric Nephrotic Syndrome in Oman. [PDF]

Kidney Int Rep
Al Riyami MS, Al Alawi I, Al Maskari A, Al Gaithi B, Al Kalbani N, Al Saidi S, Pillai J, Sampson M, Al Hashmi Z, Sayer JA.   +9 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source