Results 41 to 50 of about 38,783 (308)

Mosaic deletion-duplication syndrome of chromosome 3: Prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present prenatal molecular cytogenetic diagnosis of mosaicism for terminal 3p deletion and distal 3q duplication using cultured and uncultured amniocytes, and the association with fetoplacental discrepancy.
Chih-Ping Chen, Yi-Ning Su, Chin-Yuan Hsu, Schu-Rern Chern, Chen-Chi Lee, Yu-Ting Chen, Wen-Lin Chen, Wayseen Wang   +7 more
doaj   +1 more source

Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Frontiers in Genetics, 2021
Germline mosaicism should be suspected when the same de novo mutations are identified in a second pregnancy with asymptomatic parents. Our study aims to find a feasible approach to reveal the existence of germline mosaicism.
Pengzhen Jin, Pengzhen Jin, Xiaoyang Gao, Xiaoyang Gao, Miaomiao Wang, Miaomiao Wang, Yeqing Qian, Yeqing Qian, Jingjin Yang, Jingjin Yang, Yanmei Yang, Yanmei Yang, Yuqing Xu, Yuqing Xu, Yanfei Xu, Yanfei Xu, Minyue Dong, Minyue Dong   +17 more
doaj   +1 more source

Genetic Mosaicism in Calmodulinopathy. [PDF]

, 2019
CaM (calmodulin) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy) and are most often de novo. In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin ...
Johnson, Christopher N, Bdeir, Amnah, Potet, Franck, Jiménez-Jáimez, Juan, Monserrat, Lorenzo, Kaski, Juan-Pablo, Carvill, Gemma L, Perin, Francesca, Schwartz, Peter J, George, Alfred L, Aziz, Miriam C, Wren, Lisa M, Al-Aama, Jumana Y, Al-Ghamdi, Saleh, Al-Hassnan, Zuhair N, Burridge, Paul W, Bhuiyan, Zahurul A, Foo, Roger Y, Crotti, Lia, Kuan, Jyn L, Chazin, Walter J   +20 more
core   +2 more sources

Side differences in the degree of mosaicism of the buccal mucosa in Turner syndrome

Molecular Genetics & Genomic Medicine, 2019
Background The aim was to investigate if there were any differences in the degree of mosaicism between the left‐ and right‐hand sides of the buccal mucosa in women with Turner syndrome.
Sofia Thunström, Kerstin Landin‐Wilhelmsen, Inger Bryman, Charles Hanson   +3 more
doaj   +1 more source

The lambda red proteins promote efficient recombination between diverged sequences: implications for bacteriophage genome mosaicism. [PDF]

PLoS Genetics, 2008
Genome mosaicism in temperate bacterial viruses (bacteriophages) is so great that it obscures their phylogeny at the genome level. However, the precise molecular processes underlying this mosaicism are unknown.
Jann T Martinsohn, Miroslav Radman, Marie-Agnès Petit   +2 more
doaj   +1 more source

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

, 2002
Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur ...
Ancliff, PJ, Gale, RE, David C. Linch, Rosemary E. Gale, Ri Liesner, Phil J. Ancliff, Ian M. Hann, Strobel, S, Liesner, R, Hann, IM, Watts, MJ, Michael J. Watts, Stephan Strobel, Linch, DC   +13 more
core   +1 more source

A Mosaic of Eyes [PDF]

IEEE Robotics & Automation Magazine, 2011
Autonomous navigation is a traditional research topic in intelligent robotics and vehicles, which requires a robot to perceive its environment through onboard sensors such as cameras or laser scanners, to enable it to drive to its goal. Most research to date has focused on the development of a large and smart brain to gain autonomous capability for ...
Ping Jiang 0001, Zuren Feng, Yongqiang Cheng 0001, Yuanxiang Ji, Jin Zhu, Xiaonian Wang, Feng Tian, John Baruch, Fun Hu   +8 more
openaire   +2 more sources

Recurrent DNA break clusters drive replication-stress-induced copy number variants and genome diversification

Nature Communications
Copy number variants (CNVs) are strongly implicated in neurological and psychiatric disorders and brain cancer, yet the process by which replication stress generates CNVs—and why some recur while others remain rare—remains poorly understood.
Lorenzo Corazzi, Alex Ing, Eva Benito, Marco Raffaele Cosenza, Patrick Hasenfeld, Thomas Weber, Anna J. M. Marx, Vivien S. Ionasz, Nathan Trausch, Sarah Benedetto, Giulia Di Muzio, Boyu Ding, Jana Berlanda, Marco Giaisi, Nina Claudino, Thomas Höfer, Jan O. Korbel, Pei-Chi Wei   +17 more
doaj   +1 more source

Two cases of trisomy 16 mosaicism ascertained postnatally

, 2009
Postnatally ascertained trisomy 16 mosaicism is a rare diagnosis, with only three reported cases to date with no defined clinical phenotype. Trisomy 16 mosaicism diagnosed prenatally is common and associated with variable pregnancy outcomes ranging from ...
Agnes Bankier, Claudine Rieubland, White, Susan M, Susan M. White, Francis, David, David Francis, Rieubland, Claudine, Houben, Leonie, Leonie Houben, Sylvea Corrie, Bankier, Agnes, Corrie, Sylvea   +11 more
core   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source