Results 191 to 200 of about 672,835 (295)

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns. [PDF]

Genome Med
Liang D, Zhu M, Liang Q, Qiang R, Yu L, Xu S, Li M, Song J, Zhou Y, He X, Huang Y, Jin H, Tan J, Liu H, Xia A, Liu Y, Liu P, Li Z, Wang R, Wang D, Zhang R, Pu Q, Zhou J, Xu R, Wang X, Tan M, Chen D, Wu C, Cui D, Mao A, Zhou W, Qiu W, Wu L.   +32 more
europepmc   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis.

JAMA Pediatr
Thiffault I, Farrow E, Barrett C, Scott M, Ross A, Means JC, Cheung WA, Johnson AF, Koseva B, McLennan R, Grundberg E, Bi C, Schwendinger-Schreck C, Yoo B, Johnston JJ, Del Viso F, Paolillo V, Herriges J, Zhang L, Gibson M, Cohen ASA, Alaimo J, Saunders CJ, Pastinen T.   +23 more
europepmc   +1 more source

Long-read sequencing to detect full-length protein-protein interactions. [PDF]

Sci Rep
Schaefer-Ramadan S, Guan Y, Ahmed AA, Aleksic J, Elmagarmid KA, Syed LF, Mohamoud YA, Malek JA.   +7 more
europepmc   +1 more source

Fibrinogen Changes Before and After Intravenous Thrombolysis as Predictors of Cerebral Injury and Clinical Outcomes in Acute Ischemic Stroke: A Multicenter Prospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma fibrinogen is essential in thrombosis and fibrinolysis, yet its dynamic changes pre‐ and post‐intravenous thrombolysis (IVT) for predicting brain injury severity and prognosis in acute ischemic stroke (AIS) patients remain unclear.
Wenhai Zhai, Yang Qu, Reziya Abuduxukuer, Kejia Zhang, Peng Zhang, Xin Tang, Huaimei Zhang, Lijuan Wang, Lichong Yang, Shuangxu Tan, Zhimei Yuan, Ce Han, Lili He, Yuping Zheng, Fenglan Zhao, Lijie Guo, Ligang Jiang, Jinfeng Li, Yongfei Jiang, Xuexia Zou, Dan Xu, Han Xu, Xiaojia Wang, Yingbin Qi, Xuefeng Hu, Yu Zhang, Zhen‐Ni Guo, Hang Jin, on behalf of the Biomarkers of Brain Injury Investigator Study Group   +28 more
wiley   +1 more source

Bioinformatics frameworks for single-cell long-read sequencing: unlocking isoform-level resolution. [PDF]

Brief Bioinform
Bhatia S, Field MA, Hebbard L, Schmitz U.   +3 more
europepmc   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy. [PDF]

Appl Clin Genet
Yuan Q, Liu C, Lu Y, Han X, Wang Z, Yuan Y, Xie Z.   +6 more
europepmc   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Long-read sequencing of primate testis and human sperm allows identification of recombination events in individuals. [PDF]

Nat Commun
Porsborg PS, Charmouh AP, Singh VK, Winge SB, Hvilsom C, Oroperv C, Hansen LT, Berner JA, Pelizzola M, Laurentino S, Neuhaus N, Hobolth A, Bataillon T, Besenbacher S, Almstrup K, Schierup MH.   +15 more
europepmc   +1 more source