Results 51 to 60 of about 2,828,081 (345)

Multiple-locus heterozygosity, physiology and growth at two different stages in the life cycle of the Chilean oyster Ostrea chilensis [PDF]

, 1996
A random sample of 150 individuals of a laboratory-produced cohort of Ostrea chilensis Philippi, 1845 was taken at 10 and 36 mo of age to estimate physiological variables and individual heterozygosity using 4 loci (Lap, Pgi, Pgm and Ca).
Gallegillos, R., Toro, J.E., Vergara, A.M.   +2 more
core   +2 more sources

Microsatellite Instability and Loss of Heterozygosity in Melanoma

Journal of Investigative Dermatology, 1995
Alterations in the repeat length of microsatellites have been identified recently in tumors arising in patients with hereditary nonpolyposis colon cancer and in several human sporadic tumors. We examined 40 sporadic melanomas and their corresponding nontumorous skin for microsatellite instability (MSI) and loss of heterozygosity (LOH) at chromosomes 2q,
Peris, Ketty, Keller, G, Chimenti, S, Amantea, A, Kerl, H, Höfler, H.   +5 more
openaire   +4 more sources

Familial Adenomatous Polyposis: Analysis of Genetic Instability of Microsatellites Loci and Genetic Alternations of Tumor Suppressor Genes

Biomolecules & Biomedicine, 2008
Familial adenomatous polyposis (FAP) is an autosomal dominant illness with the highest risk for appearance of colorectal cancer’s disease. In our study, we have used Bethesda criteria that define colorectal cancers which can be tested on microsatellite ...
Vesna Hadžiavdić, Izet Eminović, Mensura Aščerić, Radovan Komel   +3 more
doaj   +1 more source

Patterns of Genomic Instability in Interspecific Yeast Hybrids With Diverse Ancestries

Frontiers in Fungal Biology, 2021
The genomes of hybrids often show substantial deviations from the features of the parent genomes, including genomic instabilities characterized by chromosomal rearrangements, gains, and losses.
Devin P. Bendixsen, David Peris, David Peris, Rike Stelkens   +3 more
doaj   +1 more source

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

Text Searching Allowing for Non-Overlapping Adjacent Unbalanced Translocations [PDF]

arXiv, 2021
In this paper we investigate the \emph{approximate string matching problem} when the allowed edit operations are \emph{non-overlapping unbalanced translocations of adjacent factors}. Such kind of edit operations take place when two adjacent sub-strings of the text swap, resulting in a modified string.
arxiv  

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 37-51, January 2023., 2023
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1.
Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama, Norimichi Koitabashi, Kenichi Ogiwara, Masaaki Noda, Chiai Nakada, Shinya Fujiki, Akira Furutachi, Yasuhiko Tanabe, Michiko Yamanaka, Aki Ishikawa, Miyako Mizukami, Asako Mizuguchi, Kazumitsu Sugiura, Makoto Sumi, Hirokuni Yamazawa, Atsushi Izawa, Yuko Wada, Tomomi Fujikawa, Yuri Takiguchi, Keiko Wakui, Kyoko Takano, Shin‐Ya Nishio, Tomoki Kosho   +25 more
wiley   +1 more source

Characterization of phenotypic variation and genome aberrations observed among Phytophthora ramorum isolates from diverse hosts

BMC Genomics, 2018
Background Accumulating evidence suggests that genome plasticity allows filamentous plant pathogens to adapt to changing environments. Recently, the generalist plant pathogen Phytophthora ramorum has been documented to undergo irreversible phenotypic ...
Marianne Elliott, Jennifer Yuzon, Mathu Malar C, Sucheta Tripathy, Mai Bui, Gary A. Chastagner, Katie Coats, David M. Rizzo, Matteo Garbelotto, Takao Kasuga   +9 more
doaj   +1 more source

Voter models with heterozygosity selection [PDF]

Annals of Applied Probability 2008, Vol. 18, No. 1, 59-99, 2007
This paper studies variations of the usual voter model that favor types that are locally less common. Such models are dual to certain systems of branching annihilating random walks that are parity preserving. For both the voter models and their dual branching annihilating systems we determine all homogeneous invariant laws, and we study convergence to ...
arxiv   +1 more source

Pharmacological And Genetic Reversal Of Age-Dependent Cognitive Deficits Attributable To Decreased Presenilin Function [PDF]

, 2010
Alzheimer\u27s disease (AD) is the leading cause of cognitive loss and neurodegeneration in the developed world. Although its genetic and environmental causes are not generally known, familial forms of the disease (FAD) are attributable to mutations in a
Bell, A. J., Chiorean, S., Choi, C. H., Choi, R. J., Ferreiro, D., Ferrick, N. J., Fortini, M. E., Hinchey, P., Jongens, T. A., Koenigsberg, E., Kollaros, M., Liebelt, D. A., McBride, S. M.J., McDonald, T. V., Nguyen, H. T., Rudominer, R. L., Schoenfeld, B. P., Siwicki, Kathleen King, Sumida, A., Terlizzi, A. M.   +19 more
core   +2 more sources