Results 51 to 60 of about 31,423 (169)

Distinctively Different Phenotypes of Two Cases with a Rare Karyotype of 45,X/47,XYY Mosaicism: Case Report and Literature Review

Journal of Pediatric Research, 2022
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development, mixed gonadal dysgenesis and Turner syndrome.
Özge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarık Kırkgöz, Gülçin Arslan, Beyhan Özkaya, Yaşar Bekir Kutbay, Behzat Özkan   +8 more
doaj   +1 more source

The Mosaic Daughter of a Mosaic Cock

Poultry Science, 1954
Abstract GREENWOOD and Blyth (1951) described two asymmetrically marked cocks that had resulted from matings of Light Sussex hens with Rhode Island Red males. At the time the report was made some 450 of their offspring had been raised to an age when their external characters could be classified.
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Molecular Genetics & Genomic Medicine, 2019
Background Turner syndrome (TS) is a common chromosomal disorder affecting approximately 1:2,500 live female births. Mosaic 47,XXX karyotype is found in 3%–4% of TS patients.
Ruiyi Tang, Lin Lin, Zaixin Guo, Haiyan Hou, Qi Yu   +4 more
doaj   +1 more source

Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation

Nature Communications, 2020
Injecting Cas9 and gRNA into an animal zygote often produces mosaicism and random biallelic targeting. Here, the authors use pronuclear transfer to reduce mosaicism and selectively target parental alleles.
Yanhe Li, Yuteng Weng, Dandan Bai, Yanping Jia, Yingdong Liu, Yalin Zhang, Xiaochen Kou, Yanhong Zhao, Jingling Ruan, Jiayu Chen, Jiqing Yin, Hong Wang, Xiaoming Teng, Zuolin Wang, Wenqiang Liu, Shaorong Gao   +15 more
doaj   +1 more source

Genetic Mosaics

Scientific American, 1960
Uploaded by Plazi for TaxoDros. We do not have abstracts.
openaire   +3 more sources

Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

Scientific Reports
While de novo variants (DNV) are overall at low risk of recurrence in subsequent pregnancies, a subset is at high risk due to parental mosaicism. Accurately identifying cases of parental mosaicism is therefore important for genetic counseling in clinical
François Lecoquierre, Kévin Cassinari, Nathalie Drouot, Angèle May, Steeve Fourneaux, Francoise Charbonnier, Celine Derambure, Sophie Coutant, Pascale Saugier-Veber, Alexander Hoischen, Camille Charbonnier, Gaël Nicolas   +11 more
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A rare case of uniparental disomy 9 concomitant with low-level mosaicism

Вавиловский журнал генетики и селекции
Uniparental disomy of chromosome 9, in combination with low-level mosaicism for chromosome 9, represents a rare chromosomal disorder. One of the mechanisms underlying the formation of uniparental disomy is the trisomy rescue, which concurrently results ...
A. S. Iakovleva, Zh. G. Markova, L. A. Bessonova, N. V. Shilova   +3 more
doaj   +1 more source

Memory Mosaics

CoRR
Memory Mosaics are networks of associative memories working in concert to achieve a prediction task of interest. Like transformers, memory mosaics possess compositional capabilities and in-context learning capabilities. Unlike transformers, memory mosaics achieve these capabilities in comparatively transparent way ("predictive disentanglement").
Jianyu Zhang, Niklas Nolte, Ranajoy Sadhukhan, Beidi Chen, Léon Bottou   +4 more
openaire   +3 more sources

Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndrome

Frontiers in Immunology
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their ...
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile   +31 more
doaj   +1 more source

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Meng-Shan Lee, Wayseen Wang   +4 more
doaj   +1 more source