Results 31 to 40 of about 162,786 (255)

New cytogenetically visible copy number variant in region 8q21.2

Molecular Cytogenetics, 2011
Background Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy.
Ewers Elisabeth, Schmidt Catharina, Reichenbach Herbert, Ramel Christian, Kelbova Christina, Kläs Rüdiger, Lancé Jeannette, Cremer Friedrich W, Manvelyan Marina, Kreskowski Katharina, Ziegler Monika, Kosyakova Nadezda, Liehr Thomas   +12 more
doaj   +1 more source

Copy Number Variants in Four Italian Turkey Breeds

Animals, 2021
Heritage breeds can be considered a genetic reservoir of genetic variability to be conserved and valorized considering their historical, cultural, and adaptive characteristics and possibly for their high potential in commercial hybrid genetic improvement
Maria Giuseppina Strillacci, Stefano Paolo Marelli, Raffaella Milanesi, Luisa Zaniboni, Chiara Punturiero, Silvia Cerolini   +5 more
doaj   +1 more source

Copy number variants in Ebstein anomaly

PLOS ONE, 2017
Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component.We performed a ...
Andreas Giannakou, Robert J. Sicko, Wei Zhang, Paul Romitti, Marilyn L. Browne, Michele Caggana, Lawrence C. Brody, Laura Jelliffe-Pawlowski, Gary M. Shaw, Denise M. Kay, James L. Mills   +10 more
openaire   +4 more sources

Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens

BMC Medical Genomics, 2018
Background Noninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations.
Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty, Dale Muzzey   +4 more
doaj   +1 more source

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

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.
Reif, Andreas, Degenhardt, Franziska, Meyer-Lindenberg, Andreas, Walter, Henrik, Mössner, Rainald, Nenadic, Igor, Sauer, Heinrich, Rujescu, Dan, Maier, Wolfgang, Rietschel, Marcella, Nöthen, Markus M., Cichon, Sven, Strohmaier, Jana, Reif, Andreas, Breuer, René, Herms, Stefan, Witt, Stephanie H., Hoffmann, P., Kulbida, Rebecca, Mattheisen, Manuel, Moebus, Susanne   +20 more
openaire   +9 more sources

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

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

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