Results 51 to 60 of about 502,320 (296)

Copy Number Variants in German Patients with Schizophrenia

PLoS ONE, 2013
Large rare copy number variants (CNVs) have been recognized as significant genetic risk factors for the development of schizophrenia (SCZ). However, due to their low frequency (1∶150 to 1∶1000) among patients, large sample sizes are needed to detect an association between specific CNVs and SCZ.
Priebe, Lutz, Degenhardt, Franziska, Strohmaier, Jana, Breuer, René, Herms, Stefan, Witt, Stephanie H., Hoffmann, Per, Kulbida, Rebecca, Mattheisen, Manuel, Moebus, Susanne, Meyer-Lindenberg, Andreas, Walter, Henrik, Mössner, Rainald, Nenadic, Igor, Sauer, Heinrich, Rujescu, Dan, Maier, Wolfgang, Rietschel, Marcella, Nöthen, Markus M., Cichon, Sven   +19 more
openaire   +8 more sources

Schizophrenia copy number variants and associative learning [PDF]

Molecular Psychiatry, 2016
Large-scale genomic studies have made major progress in identifying genetic risk variants for schizophrenia. A key finding from these studies is that there is an increased burden of genomic copy number variants (CNVs) in schizophrenia cases compared with controls.
Clifton, N. E., Pocklington, A. J., Scholz, B., Rees, E., Walters, J. T. R., Kirov, G., O'Donovan, M. C., Owen, M. J., Wilkinson, L. S., Thomas, K. L., Hall, J.   +10 more
openaire   +3 more sources

In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?

Frontiers in Medicine
PurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang, Shaozhe Yang, Rongxiang Li, Rongxiang Li, Shuwen Xin, Shuwen Xin, Yanqi He, Yanqi He, Shaoxia Teng, Shaoxia Teng, Yanan Gao, Yanan Gao, Xiuhong Fu, Xiuhong Fu   +13 more
doaj   +1 more source

Genomic landscape of pancreatic cancer in the Japanese version of the Cancer Genome Atlas

Annals of Gastroenterological Surgery, 2023
Background Pancreatic cancer (PC) is one of the most aggressive cancers worldwide. Although many studies have investigated genomic alterations, the genomic landscape of Japanese PC patients has not been fully elucidated.
Taisuke Imamura, Ryo Ashida, Keiichi Ohshima, Katsuhiko Uesaka, Teiichi Sugiura, Yukiyasu Okamura, Katsuhisa Ohgi, Sumiko Ohnami, Takeshi Nagashima, Ken Yamaguchi   +9 more
doaj   +1 more source

Genetics of strabismus

Frontiers in Ophthalmology, 2023
Strabismus, or misalignment of the eyes, is the most common ocular disorder in the pediatric population, affecting approximately 2%–4% of children. Strabismus leads to the disruption of binocular vision, amblyopia, social and occupational discrimination,
Mayra Martinez Sanchez, Mayra Martinez Sanchez, Mary C. Whitman, Mary C. Whitman, Mary C. Whitman   +4 more
doaj   +1 more source

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source

Using Copy Number Variation Data and Neural Networks to Predict Cancer Metastasis Origin Achieves High Area under the Curve Value with a Trade-Off in Precision

Current Issues in Molecular Biology
The accurate identification of the primary tumor origin in metastatic cancer cases is crucial for guiding treatment decisions and improving patient outcomes.
Michel-Edwar Mickael, Norwin Kubick, Atanas G. Atanasov, Petr Martinek, Jarosław Olav Horbańczuk, Nikko Floretes, Michael Michal, Tomas Vanecek, Justyna Paszkiewicz, Mariusz Sacharczuk, Piotr Religa   +10 more
doaj   +1 more source

The copy number variant involving part of the \u3b17 nicotinic receptor gene contains a polymorphic inversion. [PDF]

, 2008
The \u3b17 nicotinic acetylcholine receptor gene (CHRNA7) is located at 15q13\u2013q14 in a region that is strongly linked to the P50 sensory gating deficit, an endophenotype of schizophrenia and bipolar disorder.
1 8, 2., Davies, A., Di Forti, M., European Journal of Human, G., Flomen, R., LA CASCIA, C., Macie Ogilvie, C., Makoff, A., Murray, R.   +8 more
core   +1 more source

Genomic characteristics of miscarriage copy number variants [PDF]

Molecular Human Reproduction, 2015
Studies of copy number variants (CNVs) in miscarriages are rare in comparison to post-natal cases with developmental abnormalities. The overall characteristics of miscarriage CNVs (size, gene content and function) are therefore largely unexplored. Our goal was to assess and compare the characteristics of CNVs identified in 101 euploid miscarriages from
Hani, Bagheri, Eloi, Mercier, Ying, Qiao, Mary D, Stephenson, Evica, Rajcan-Separovic   +4 more
openaire   +2 more sources

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Molecular Genetics & Genomic Medicine, 2023
Background Very long‐chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi   +18 more
doaj   +1 more source