نتایج جستجو برای: uniparental disomy

تعداد نتایج: 1450  

Journal: :Cancer research communications 2023

Abstract Hürthle cell carcinoma (HCC) is a rare type of thyroid cancer with high rates distant metastasis and recurrence. Along the scarcity effective systemic therapies for HCC, these factors contribute to poor clinical outcomes. The immunologic features HCC are poorly defined response immune checkpoint blockade have not been reported. A more comprehensive understanding landscape that predict ...

Journal: :Genetics 1992
E S Cole P J Bruns

A new method of inducing self-fertilization, uniparental cytogamy, yields homozygous germinal and somatic genotypes in the ciliate Tetrahymena thermophila. Progeny are highly fertile and show a marked tendency for precocious sexual maturity. This method is highly effective in protocols designed to generate and express nonlethal dominant or recessive mutations.

2007

Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...

Journal: :Proceedings of the National Academy of Sciences 2012

Journal: :European Journal of Obstetrics & Gynecology and Reproductive Biology 2017

2011
Jeroen Reneerkens Kirsten Grond Hans Schekkerman Ingrid Tulp Theunis Piersma

Birds breeding in cold environments regularly have to interrupt incubation to forage, causing a trade-off between two mutually exclusive behaviours. Earlier studies showed that uniparental Arctic sandpipers overall spend less time incubating their eggs than biparental species, but interspecific differences in size and ecology were potential confounding factors. This study reports on a within-sp...

Journal: :Clinics in laboratory medicine 2011
Hutton M Kearney Joseph B Kearney Laura K Conlin

Single nucleotide polymorphism–based microarrays used in diagnostic laboratories for the detection of copy number alterations also provide data allowing for surveillance of the genome for regions of homozygosity. The finding of one (or more) long contiguous stretch of homozygosity (LCSH) in a constitutional (nonneoplastic) diagnostic setting can lead to the diagnosis of uniparental disomy invol...

Journal: :Haematologica 2011
Pierre Boisseau Mathilde Giraud Catherine Ternisien Agnès Veyradier Edith Fressinaud Armelle Lefrancois Stéphane Bezieau Marc Fouassier

Publisher's Disclaimer. E-publishing ahead of print is increasingly important for the rapid dissemination of science. Haematologica is, therefore, E-publishing PDF files of an early version of manuscripts that have completed a regular peer review and have been accepted for publication. E-publishing of this PDF file has been approved by the authors. After having E-published Ahead of Print, manus...

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