Results 161 to 170 of about 1,573,429 (399)
A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes.
Proceedings of the National Academy of Sciences of the United States of America, 1988 R. Moyzis, J. Buckingham, L. Cram, M. Dani, L. Deaven, M. Jones, J. Meyne, R. Ratliff, Jung-Rung Wu +8 moresemanticscholar +1 more sourceA 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 morewiley +1 more sourceStructural variation of chromosomes in autism spectrum disorder.
American Journal of Human Genetics, 2008 C. Marshall, A. Noor, J. Vincent, A. C. Lionel, L. Feuk, J. Skaug, M. Shago, R. Moessner, D. Pinto, Yan Ren, Bhooma Thiruvahindrapduram, A. Fiebig, S. Schreiber, J. Friedman, C. Ketelaars, Y. Vos, C. Ficicioglu, S. Kirkpatrick, R. Nicolson, L. Sloman, A. Summers, Clare A. Gibbons, A. Teebi, D. Chitayat, R. Weksberg, A. Thompson, C. Vardy, Victoria Crosbie, S. Luscombe, Rebecca Baatjes, L. Zwaigenbaum, W. Roberts, B. Fernandez, P. Szatmari, S. Scherer +34 moresemanticscholar +1 more sourceCopy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction
Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel +12 morewiley +1 more sourceIdentidad de la rana austral chilena Eupsophus coppingeri (Amphibia, Anura, Neobatrachia): evidencias morfológicas, cromosómicas y moleculares Identity of the austral Chilean frog Eupsophus coppingeri (Amphibia, Anura, Neobatrachia): morphological, chromosomic and molecular evidences
Revista Chilena de Historia Natural, 2008 Análisis comparativos que incluyen: morfología externa de adultos y larvas, osteología, cromosomas y secuencias del gen mitocondrial citocromo b muestran que la rana austral chilena Eupsophus coppingeri (Günther 1881) es una especie del género Alsodes ...J. RAMÓN FORMAS, JOSÉ NÚÑEZ, CÉSAR CUEVAS +2 moredoaj Mechanical Forces, Nucleus, Chromosomes, and Chromatin
BiomoleculesIndividual cells and cells within the tissues and organs constantly face mechanical challenges, such as tension, compression, strain, shear stress, and the rigidity of cellular and extracellular surroundings. Besides the external mechanical forces, cells Malgorzata Kloc, Jarek Wosikdoaj +1 more sourceAutosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe +6 morewiley +1 more source