Results 131 to 140 of about 414,431 (313)

Molecular genetics of the brown (b)-locus region of mouse chromosome 4. I. Origin and molecular mapping of radiation- and chemical-induced lethal brown deletions. [PDF]

, 1994
Eugene M. Rinchik, John Bell, P.R. Hunsicker, Jill Harkavy‐Friedman, Ian J. Jackson, Liane B. Russell   +5 more
openalex   +1 more source

Chromosomal Gains and Losses in Uveal Melanomas Detected by Comparative Genomic Hybridization [PDF]

, 1994
Eleven uveal melanomas were analyzed using comparative genomic hybridization (CGH). The most abundant genetic changes were loss of chromosome 3, overrepresentation of 6p, loss of 6q, and multiplication of 8q.
Becher, Reinhard, Bornfeld, N., Cremer, Thomas, Horsthemke, B., Jauch, Anna, Manoir, Stanislas du, Prescher, G., Speicher, Michael R.   +7 more
core  

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

Supplementary Spreadsheet S2 from Multiomic Mapping of Acquired Chromosome 1 Copy-Number and Structural Variants to Identify Therapeutic Vulnerabilities in Multiple Myeloma

, 2023
Eileen M. Boyle, Patrick Blaney, James H. Stoeckle, Yubao Wang, Hussein Ghamlouch, Dylan Gagler, Marc Braunstein, Louis Williams, Avital Tenenbaum, Ariel Siegel, Xiaoyi Chen, Gaurav Varma, Jason Avigan, Alexander Li, Monica Jinsi, David Kaminetzsky, Arnaldo Arbini, Lydia Montes, Jill Corre, Even H. Rustad, Ola Landgren, Francesco Maura, Brian A. Walker, Michael Bauer, Benedetto Bruno, Aristotelis Tsirigos, Faith E. Davies, Gareth J. Morgan   +27 more
openalex   +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

Copy 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 more
wiley   +1 more source

Chromosome-level genome assembly of flathead asp (Pseudaspius leptocephalus)

Scientific Data
Pseudaspius leptocephalus is an economically and ecologically important fish species endemic to the Heilongjiang River Basin. Sequencing of the complete genome of P.
Xiong Gong, Zufa Ding, Haifeng Jiang, Cheng Wang, Yuting Qian, Wenjun Chen, Dan Yu, Yang Liu, Lingling Zheng, Liandong Yang, Longwu Geng   +10 more
doaj   +1 more source

A Genetic Linkage Map Using an F1 Population in Rubber Tree (Hevea brasiliensis) based on microsatellite markers. P0527 [PDF]

, 2012
The construction of molecular gene linkage map in Hevea requires specific methodology because of high heterozygosity. Unlike annual crops, a cross between two heterozygous parents in Hevea can yield information up to four alleles, which are segregated ...
Garcia, Antonio Augusto Franco, Garcia, Dominique, Gazaffi, Rodrigo, Le Guen, Vincent, Mantello, Camilia Campos, Souza, Anete Pereira, Souza, Livia Moura, Suzuki, Fernando   +7 more
core  

Autosomal 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 more
wiley   +1 more source

FINE MAPPING OF MILK YIELD QTL ON CHROMOSOMES 6 AND 20 IN GERMAN HOLSTEIN POPULATION USING MICROSATELLITE MARKERS [PDF]

Journal of Central European Agriculture, 2006
In German Holstein population a very signifi cant QTL with effects on milk yield trait (MY) was mapped on chromosome 6 and 20 to the interval BM143–ILSTS97 and AGLA29–ILSTS72, respectively.
Reinecke PETER, Reißmann MONIKA, Müller UWE, Abdel SALAH   +3 more
doaj