Results 11 to 20 of about 57,297 (238)

Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days. [PDF]

Folia Histochemica et Cytobiologica, 2010
Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease,
Mei Wang, Adolf Baumgartner, Jingly F Weier, Johnson Kwan, Chun-Mei Lu, Tomas Escudero, Santiago MunnĂŠ, Heinz-Ulrich G Weier   +7 more
doaj   +4 more sources

Intrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]

, 2021
Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.
Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F.   +9 more
core   +1 more source

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes [PDF]

, 2018
Background The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a ''Systematic Survey of Balanced ...
Abu-Omar, Bailey, Benson, Bjelland, Browne, Browning, Cader, Deininger, Delaneau, Dermitzakis, Dixon, Eldadah, Elliott, Festenstein, Gajecka, Giglio, Gu, Herman-Bert, Jeggo, Johnson, Karkera, Kilarski, Kurahashi, Li, Lieber, Luukkonen, Maarel, Maitra, Mattick, Mefford, Metcalf, Milot, Ou, Parolin Schnekenberg, Pfeiffer, Pizzuti, Purcell, Pyle, Rajakulendran, Rauch, Ray, Rudd, Sargent, Sharp, Sheridan, Shishido, Sobue, South, Steckley, Tomita-Mitchell, Traylor, Urayama, Viskochil, Warburton, Waters, Waters, Ye, Yu, Zeitouni, Zhang   +59 more
core   +2 more sources

Chromosomal control of pig populations in France: 2002-2006 survey [PDF]

, 2007
The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002.
Berland, Hélène-Marie, Billoux, Sébastien, Bonnet, Nathalie, Calgaro, Anne, Darré, Roland, Ducos, Alain, Garnier-Bonnet, Amélie, Mary, Nicolas, Pinton, Alain   +8 more
core   +4 more sources

Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family

Molecular Cytogenetics, 2018
Background Balanced reciprocal translocation is usually an exchange of two terminal segments from different chromosomes without phenotypic effect on the carrier while leading to increased risk of generating unbalanced gametes.
Kaihui Zhang, Yan Huang, Rui Dong, Yali Yang, Ying Wang, Haiyan Zhang, Yufeng Zhang, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes [PDF]

, 1988
Chromosome aberrations in two glioma cell lines were analyzed using biotinylated DNA library probes that specifically decorate chromosomes 1, 4, 7, 18 and 22 from pter to qter.
A Al-Saadi, AG Knudson, B Trask, CD Bloomfield, D Pinkel, D. C. Ward, F Mitelman, G Rappold, GM Brodeur, GT Merlino, H Harris, H Yamazaki, HE McDermid, J Burns, J. Borden, JA Rey, JE Landegent, JR Shapiro, JS Waye, L Larizza, L Manuelidis, L Manuelidis, L Manuelidis, L. Manuelidis, LC Showe, M Schardin, MF Hansen, NB Atkin, P Lichter, P. Lichter, SH Bigner, SH Bigner, SH Bigner, T Boveri, T Cremer, T Cremer, T. Cremer, TA Libermann, W Henn   +38 more
core   +1 more source

The dynamic right-to-left translocation of Cerl2 is involved in the regulation and termination of nodal activity in the mouse node [PDF]

, 2013
The determination of left-right body asymmetry in mouse embryos depends on the interplay of molecules In a highly sensitive structure, the node. Here, we show that the localization of Cerl2 protein does not correlate to its mRNA expression pattern, from ...
Belo, Jose Antonio, Hamada, Hiroshi, Inacio, Jose Manuel, Marques, Sara, Meno, Chikara, Nakamura, Tetsuya, Shinohara, Kyosuke   +6 more
core   +6 more sources

Prenatal Diagnosis of Complex Copy Number Variants in the Fetus and Associated Cytogenetic Findings in Parents

Clinical and Experimental Obstetrics & Gynecology, 2023
Background: Co-occurrence of complex copy number variants (CNVs) is associated with more severe clinical expressivity of known syndromes. Few studies discuss diagnosis and genetic counseling for fetuses identified with multiple CNVs.
Wei Wang, Jing Wang, Ye Shi, Bin Zhang
doaj   +1 more source

Steady-state MreB helices inside bacteria: dynamics without motors [PDF]

, 2007
Within individual bacteria, we combine force-dependent polymerization dynamics of individual MreB protofilaments with an elastic model of protofilament bundles buckled into helical configurations.
Andrew D. Rutenberg, B. Alberts, J. Howard, Jun F. Allard, S. S. Andrews, S. S. Antman, X. Yao   +6 more
core   +2 more sources

BasePhasing: a highly efficient approach for preimplantation genetic haplotyping in clinical application of balanced translocation carriers

BMC Medical Genomics, 2019
Background Preimplantation genetic testing (PGT) has already been applied in chromosomally balanced translocation carriers to improve the clinical outcome of assisted reproduction.
Shuo Zhang, Dingding Zhao, Jun Zhang, Yan Mao, Lingyin Kong, Yueping Zhang, Bo Liang, Xiaoxi Sun, Congjian Xu   +8 more
doaj   +1 more source