Results 51 to 60 of about 2,948,023 (230)
Chromosomal phenotypes and submicroscopic abnormalities
Human Genomics, 2004 The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome.
Devriendt Koen, Vermeesch Joris R
doaj +1 more source
Frontiers in Endocrinology, 2023 ObjectiveThis study aimed to determine whether controlled ovarian hyperstimulation (COH) parameters influence the incidence of de novo chromosomal abnormalities (> 4 Mb) in blastocysts and, thus, clinical pregnancy outcomes in preimplantation genetic ...
Yanli Liu +7 more
doaj +1 more source
Menopause ReviewVarious soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy ...
Behnaz Moradi +9 more
doaj +1 more source
The two sides of chromosomal instability: drivers and brakes in cancer
Signal Transduction and Targeted TherapyChromosomal instability (CIN) is a hallmark of cancer and is associated with tumor cell malignancy. CIN triggers a chain reaction in cells leading to chromosomal abnormalities, including deviations from the normal chromosome number or structural changes ...
Rendy Hosea +4 more
semanticscholar +1 more source
Chromosomal abnormalities in couples with recurrent first trimester abortions.
Revista Brasileira de Ginecologia e Obstetrícia, 2014 PURPOSE To investigate the prevalence of chromosomal abnormalities in couples with two or more recurrent first trimester miscarriages of unknown cause. METHODS The study was conducted on 151 women and 94 partners who had an obstetrical history of two ...
R. O. Gonçalves +5 more
semanticscholar +1 more source
Chromosomal Abnormalities in Hypoprolific Boars [PDF]
Hereditas, 2004 Four new chromosomal rearrangements are reported in the domestic pig: 3 reciprocal translocations, rcp(4;12)(p13;q13) in a crossbred boar, rcp(1;7)(q17;q26) in a Large White purebred boar, rcp(1;6)(q17;q35) in a purebred synthetic paternal line boar, and a pericentric inversion inv(2)(p13q11) in a crossbred boar.
Pinton, Alain +8 more
openaire +4 more sources
The multifaceted role of chromosomal instability in cancer and its microenvironment
Cell, 2018 Chromosomal instability (CIN) is a hallmark of human cancer and it is associated with poor prognosis, metastasis, and therapeutic resistance. CIN results from errors in chromosome segregation during mitosis leading to structural and numerical chromosomal
S. Bakhoum, L. Cantley
semanticscholar +1 more source
Acquired abnormalities of chromosome 21 in acute lymphoblastic leukaemia
, 2008 The intrachromosomal amplification of chromosome 21 (iAMP21) was identifiedas a novel and prognositically important acquired chromosomal abnormality inchildhood acute lymphoblastic leukaemia (ALL).
Robinson, Hazel M., Robinson, Hazel M
core +1 more source
Application value of NIPT for uncommon fetal chromosomal abnormalities
Molecular Cytogenetics, 2020 Objective To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.
Lianli Yin +4 more
doaj +1 more source
Cell, 2012 SUMMARY Balanced chromosomal abnormalities (BCAs) represent a reservoir of single gene disruptions in neurodevelopmental disorders (NDD). We sequenced BCAs in autism and related NDDs, revealing disruption of 33 loci in four general categories: 1) genes ...
M. Talkowski +34 more
semanticscholar +1 more source