Results 51 to 60 of about 36,660 (231)

Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84 [PDF]

, 1986
The localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and nonradioactive in situ hybridization techniques with a DNA clone designated L1.84.
A. Brückner, AHN Hopman, AL Jørgensen, AR Mitchell, B Trask, BU Zabel, CD Bloomfield, D Pinkel, GA Rappold, GA Rappold, H Hoehn, H. D. Hager, H. P. Scholl, HF Willard, J Wolfe, J. Landegent, JC Wu, JE Landegent, JE Landegent, L Manuelidis, LA Herzenberg, M Schardin, M Schmid, M Spaeter, M. Schardin, M. van der Ploeg, MM LeBeau, P Devilee, P Devilee, P. Devilee, P. Pearson, T Cremer, T. Cremer, W Schempp   +33 more
core   +1 more source

An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

Frontiers in Genetics, 2019
Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily, Felipe Avila, Pranab J. Das, Michelle A. Kutzler, Terje Raudsepp   +4 more
doaj   +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

Hi-C analysis of genomic contacts revealed karyotype abnormalities in chicken HD3 cell line

BMC Genomics, 2023
Background Karyotype abnormalities are frequent in immortalized continuous cell lines either transformed or derived from primary tumors. Chromosomal rearrangements can cause dramatic changes in gene expression and affect cellular phenotype and behavior ...
A. Maslova, V. Plotnikov, M. Nuriddinov, M. Gridina, V. Fishman, A. Krasikova   +5 more
doaj   +1 more source

Molecular monitoring of minimal residual disease in two patients with MLL-rearranged acute myeloid leukemia and haploidentical transplantation after relapse [PDF]

, 2012
This report describes the clinical courses of two acute myeloid leukemia patients. Both had MLL translocations, the first a t(10;11)(p11.2;q23) with MLL-AF10 and the second a t(11;19)(q23;p13.1) with MLL-ELL fusion.
Beyer, Jörg, Blau, Igor Wolfgang, Burmeister, Thomas, Friedrichs, Birte, Lachmann, Nils, Lohm, Gunnar, Marschalek, Rolf, Meyer, Claus, Molkentin, Mara, Schwartz, Stefan, Tietze-Bürger, Carola, Uharek, Lutz   +11 more
core   +1 more source

Characteristics and survival of patients with advanced cancer and p53 mutations. [PDF]

, 2014
P53 mutations are associated with invasive tumors in mouse models. We assessed the p53mutations and survival in patients with advanced cancer treated in the Phase I Program. Of 691 tested patients, 273 (39.5%) had p53 mutations.
Aldape, Kenneth, Fu, Siqing, Hess, Kenneth R, Hong, David S, Janku, Filip, Kurzrock, Razelle, Naing, Aung, Palmer, Gary A, Said, Rabih, Thomas, Christoforos, Tsimberidou, Apostolia M, Wheler, Jennifer J, Ye, Yang   +12 more
core   +4 more sources

Chromosomal aberrations in couples with pregnancy loss: A retrospective study

Journal of Human Reproductive Sciences, 2018
Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Vandana Wankhede, Moreshwar R Shende, Aaditya M Tarnekar   +5 more
doaj   +1 more source

Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss

Journal of Human Reproductive Sciences, 2020
Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimester ...
Ghada Mohamed Elhady, Soha Kholeif, Nahla Nazmy   +2 more
doaj   +1 more source

Non-invasive prenatal screening tests – update 2022

Journal of Laboratory Medicine, 2022
Since 2012, non-invasive prenatal testing (NIPT) using cell-free DNA from maternal plasma is applied all over the world as highly efficient first-line or contingent screening approach for trisomy 13, 18 and 21.
Kypri Elena, Ioannides Marios, Achilleos Achilleas, Koumbaris George, Patsalis Philippos, Stumm Markus   +5 more
doaj   +1 more source

Clinical and molecular characterization of HER2 amplified-pancreatic cancer [PDF]

, 2013
<p>Background: Pancreatic cancer is one of the most lethal and molecularly diverse malignancies. Repurposing of therapeutics that target specific molecular mechanisms in different disease types offers potential for rapid improvements in outcome ...
Biankin, A.V., Chang, D.K., Chantrill, L., Chin, V., Chou, A., Cowley, M.J., Gill, A.J., Goldstein, D., Grimmond, S.M., Humphris, J., Johns, A.L., Kassahn, K.S., Mead, R., Miller, D.K., Morey, A.L., Musgrove, E.A., Nagrial, A.M., Nones, K., Pajic, M., Patch, A.M., Pearson, J.V., Pinese, M., Rooman, I., Samra, J.S., Toon, C.W., Waddell, N., Wasan, H., Wu, J.   +27 more
core   +3 more sources