Results 41 to 50 of about 105,723 (318)

The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers

BMC Medical Genomics, 2017
Background Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers.
Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Haiyan Sun, Jing Fu, Yijuan Sun, Xiaoxi Sun, Daru Lu, Yueping Zhang   +9 more
doaj   +1 more source

Microdeletion syndromes, balanced translocations, and gene mapping. [PDF]

Journal of Medical Genetics, 1988
High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a ...
openaire   +2 more sources

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]

, 1993
The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi, Anna Jauch, B Dutrillaux, C Lengauer, C Lengauer, CC Collins, Christoph Lengauer, D Pinkel, Detlev Schindler, DH Ledbetter, DH Ledbetter, GD Johnson, H Telenius, Harold C. Riethman, Helen Donis-Keller, J Grouchy de, J Sambrook, J Wiegant, JG Dauwerse, JS Heslop-Harrison, JW IJdo, Michael R. Speicher, P Lichter, P Lichter, PM Nederlof, PM Nederlof, S Manoir du, Susanne Popp, T Ried, T Ried, T Ried, Thomas Cremer   +31 more
core   +1 more source

Driven translocation of a polymer: role of pore friction and crowding

, 2014
Force-driven translocation of a macromolecule through a nanopore is investigated by taking into account the monomer-pore friction as well as the "crowding" of monomers on the {\it trans} - side of the membrane which counterbalance the driving force ...
Dubbeldam, Johan L. A., Rostiashvili, V. G., Vilgis, T. A.   +2 more
core   +1 more source

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics [PDF]

, 1990
DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization.
Cremer, Thomas, Daumer, C., Jauch, Anna, Lichter, Peter, Murken, J., Schroeder-Kurth, T.   +5 more
core   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Analysis of meiotic segregation patterns and interchromosomal effects in sperm from 13 robertsonian translocations

Balkan Journal of Medical Genetics, 2017
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was
Wang B, Nie B, Tang D, Li R, Liu X, Song J, Wang W, Liu Z   +7 more
doaj   +1 more source

Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)

Molecular Genetics & Genomic Medicine, 2020
Background Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants.
Ying Dai, Yongjuan Wei, Yuanyuan Chen, Hui Guo, Min Zhong   +4 more
doaj   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]

, 2019
Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto, Marques, Barbara, Serafim, Silvia   +2 more
core   +1 more source