Results 1 to 10 of about 152,887 (212)

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion
Ye Cao, Ye Cao, Ye Cao, Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Zirui Dong, Zirui Dong, Kwong Wai Choy, Kwong Wai Choy, Ivan Fai Man Lo   +18 more
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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Molecular Cytogenetics, 2022
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions ...
Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson   +8 more
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Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis [PDF]

, 2010
Meiosis is unique to germ cells and essential for reproduction. During the first meiotic division, homologous chromosomes pair, recombine, and form chiasmata.
Choi, Y, Erdin, SU, Kloc, M, Meistrich, ML, Rajkovic, A, Shin, YH, Wang, PJ, Yang, F, Yatsenko, SA   +8 more
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The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]

, 1994
Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
A Baldini, A Jauch, A. Jauch, B Dutrillaux, B. Horsthemke, C Lengauer, C Lengauer, C Lengauer, C. Lengauer, D Pinkel, G. Senger, H-J Lüdecke, H. -J. L�decke, J Wienberg, J Wienberg, J. Wienberg, JJ Yunis, JW Ijdo, LEM Boer de, M Djalali, M Klever, N. Arnold, P Lichter, R Avarello, R Stanyon, R Stanyon, RA Wells, T Cremer, T Ried, T. Cremer, U Trautmann, U. Claussen, Z Gelman-Kohan   +32 more
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A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]

, 2004
Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B, Mehan, Michael R, Ophoff, Roel A   +2 more
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Relative proximity of chromosome territories influences chromosome exchange partners in radiation-induced chromosome rearrangements in primary human bronchial epithelial cells [PDF]

, 2013
Copyright © 2013 The Authors. This article is made available through the Brunel Open Access Publishing Fund. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-No Derivative Works License, which ...
Anderson, RM, Bridger, JM, Estrada-Girona, G, Foster, HA, Garimberti, E, Hill, MA, Themis, M   +6 more
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Karyotypic variation in the Andean rodent Phyllotis xanthopygus (Waterhouse, 1837) (Rodentia, Cricetidae, Sigmodontinae) [PDF]

, 2014
Phyllotis xanthopygus (Waterhouse, 1837) is an Andean rodent endemic to South America. Despite its wide geographical distribution in Argentina, few individuals have been studied on the cytogenetic level and only through conventional staining.
Cuello, Pablo Andrés, Labaroni, Carolina Alicia, Lanzone, Cecilia, Malleret, Matías Maximiliano, Marti, Dardo Andrea, Novillo, Agustina, Ojeda, Agustina Alejandra, Ojeda, Agustina Alejandra, Rodriguez, Daniela   +8 more
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Comparative chromosome painting discloses homologous Segments in distantly related mammals [PDF]

, 1994
Comparative chromosome painting, termed ZOO-FISH, using DNA libraries from flow sorted human chromosomes 1,16,17 and X, and mouse chromosome 11 discloses the presence of syntenic groups in distantly related mammalian Orders ranging from primates (Homo
A Jauch, A Kallioniemi, A Lima-de-Faria, A Lima-de-Faria, Antonio Lima-de-Faria, B Dutrillaux, C Collins, C Lengauer, C Lengauer, C Lengauer, D Pinkel, D Pinkel, E Göttert, EP Evans, G Schriever-Schwemmer, GP Holmquist, GP Holmquist, H Neitzel, H Scherthan, H Scherthan, Harry Scherthan, Heinz-Ulrich Weier, HP Levy, J Hetzel, J Meyne, J Wienberg, J Wienberg, JA Adegoke, JAM Graves, JG Dauwerse, JW Breneman, K Miashita, Lutz Frönicke, M Klever, M Vooijs, M Yerle, MR Speicher, NE Morton, NG Copeland, P Lichter, R Stanyon, S du Manoir, S Liming, S Luke, S Ohno, SF Nelson, SJ O'Brien, SJ O'Brien, SJ O'Brien, T Ried, T Ried, Thomas Cremer, U Amason, U Arnason, Ulfur Arnason, WA Bickmore, XY Guan   +56 more
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Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]

, 1992
Non-isotopic in situ hybridization of chromosome-specific alphoid DNA probes has become a potent tool in the study of numerical aberrations of specific human chromosomes at all stages of the cell cycle. In this paper, we describe approaches for the rapid
A Gnirke, AHN Hopman, AR Mitchell, C Huxley, C Lengauer, Christoph Lengauer, D Pinkel, ED Green, EW Jabs, HF Willard, HF Willard, HF Willard, HM Rosenberg, Ian Dunham, J Anastasi, J Meyne, JE Koch, JS Waye, JS Waye, JS Waye, L Manuelidis, L Manuelidis, M Klever, P Emmerich, PJ Poddighe, PR Langer, S Popp, T Cremer, T Cremer, T Cremer, T Imai, T Maniatis, Terry Featherstone, Thomas Cremer   +33 more
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A comparative of G-banded chromosome of Assam Macaque (Macaca assamensis) and relationship to human (Homo sapiens) [PDF]

Songklanakarin Journal of Science and Technology (SJST), 2006
This research was the first to report a comparative analysis of G-banded chromosome of Assam macaque, Macaca assamensis (Primate, Cercopithecidae) and relationship to human, Homo sapiens (Primate, Hominidae).
Bunjongrat, R., Khunsook, S., Kaensa, W., Tanomtong, A.   +3 more
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