Gotowe bibliografie tematyczne / Paracentric inversion

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  1. Artykuły w czasopismach
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  4. Części książek
  5. Streszczenia konferencji

Gotowa bibliografia na temat „Paracentric inversion”

Autor: Grafiati
Data publikacji: 2 czerwca 2025
Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "Paracentric inversion"

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Singh, B. N., and Aparup Das. "Inversion polymorphism in Indian natural populations of Drosophila melonogaster." Genome 33, no. 3 (1990): 311–16. http://dx.doi.org/10.1139/g90-048.

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Six natural populations (three urban and three rural) of Drosophila melonogaster from India were analysed for chromosome inversions, revealing the presence of 19 different paracentric autosomal inversions. One new inversion has also been detected in a laboratory stock established from flies collected from Kerala. In total 20 different paracentric inversions in Indian D. melonogaster have been detected during the present study, and of these, 4 are common cosmopolitans; 2 are rare cosmopolitans; 7 are recurrent endemics; and 7 are unique endemics. The quantitative data clearly show that the urba
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Werle, Sean F., Ed Klekowski, and Douglas G. Smith. "Inversion polymorphism in a Connecticut River Axarus species (Diptera: Chironomidae): biometric effects of a triple inversion heterozygote." Canadian Journal of Zoology 82, no. 1 (2004): 118–29. http://dx.doi.org/10.1139/z03-227.

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The authors sampled three spatially isolated populations of a chironomid midge in the genus Axarus living in the Connecticut River both early and late in the larval life cycle of one generation. Larvae were scored for both length and inversion frequency using the polytene chromosomes from salivary gland cells. We found polymorphism for four paracentric inversions. Inversion C1–6 exhibits a geographic cline, increasing in frequency with increasing latitude but remaining stable over time. Also stable over time were two other paracentric inversions designated A1–5 and F13–20, which were present a
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Bettio, D., N. Rizzi, and D. Giardino. "Case of paracentric inversion 19p." American Journal of Medical Genetics 58, no. 4 (1995): 386. http://dx.doi.org/10.1002/ajmg.1320580424.

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Rigola, Maria A., Neus Baena, Vicenç Català, et al. "A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability." Cytogenetic and Genome Research 146, no. 2 (2015): 109–14. http://dx.doi.org/10.1159/000437127.

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Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in
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Д.А., Юрченко,, Тарлычева, А.А., Миньженкова, М.Е., Маркова, Ж.Г., and Шилова, Н.В. "Estimation of the frequency of recombination in the inversion loop in a carrier of polymorphic paracentric inversion 8p23.1." Nauchno-prakticheskii zhurnal «Medicinskaia genetika, no. 12 (December 26, 2022): 60–63. http://dx.doi.org/10.25557/2073-7998.2022.12.60-63.

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Парацентрическая инверсия 8р23.1 является одной из самых протяженных полиморфных инверсий у человека. В результате патологической мейотической сегрегации парацентрической инверсии образуются гаметы и впоследствии зиготы с рекомбинантными хромосомами, а именно с хромосомным/геномным дисбалансом в виде инвертированной дупликации со смежной делецией (inv dup del) или с терминальной делецией (del). В исследовании впервые проведена оценка частоты рекомбинации в инверсионной петле у носителя полиморфной парацентрической инверсии 8р23.1. Установлено, что в мужском гаметогенезе при гетерозиготном носи
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Callen, David F. "Alternative Interpretation of Reported Paracentric Inversion." American Journal of Human Genetics 63, no. 1 (1998): 269–70. http://dx.doi.org/10.1086/301902.

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Schmid, M., R. Hofmann, J. Köhler, and U. Jannek. "Familial paracentric inversion in(2)(q31q36)." Human Genetics 71, no. 3 (1985): 270–72. http://dx.doi.org/10.1007/bf00284590.

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Bell, Judith, Robyn Dunlop, and Jennifer Bryan. "Another paracentric inversion of chromosome 18." American Journal of Medical Genetics 39, no. 2 (1991): 238. http://dx.doi.org/10.1002/ajmg.1320390230.

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Ruiz, Alfredo, José María Ranz, Mario Cáceres, and Carmen Segarra. "Chromosomal evolution and comparative gene mapping in the Drosophila repleta species group." Brazilian Journal of Genetics 20, no. 4 (1997): 553–65. http://dx.doi.org/10.1590/s0100-84551997000400003.

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A review of our recent work on the cromosomal evolution of the Drosophila repleta species group is presented. Most studies have focused on the buzzatii species complex, a monophyletic set of 12 species which inhabit the deserts of South America and the West Indies. A statistical analysis of the length and breakpoint distribution of the 86 paracentric inversions observed in this complex has shown that inversion length is a selected trait. Rare inversions are usually small while evolutionary successful inversions, fixed and polymorphic, are predominantly of medium size. There is also a negative
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Navas-Castillo, J., J. Cabrero, and J. P. M. Camacho. "Paracentric inversion in the grasshopper Oedipoda charpentieri." Heredity 59, no. 3 (1987): 441–44. http://dx.doi.org/10.1038/hdy.1987.153.

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Rozprawy doktorskie na temat "Paracentric inversion"

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Bhatt, Samarth. "Segregation analysis of paracentric inversions in human sperm." Montpellier 1, 2008. http://www.theses.fr/2008MON1T002.

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Les inversions paracentriques sont des anomalies chromosomiques généralement considérées comme inoffensives. Toutefois, des cas de porteurs de chromosomes remaniés issus d'inversions paracentriques ont été rapportés, soulignant la nécessité d'étudier le comportement méiotique de ces anomalies. Seules quelques études ont été pratiquées, utilisant la technique de fécondation croisée Homme-Hamster, le typage génétique des spermatozoïdes (sperm typing) ou l'hybridation in situ fluorescente (FISH) par marquages centromériques ou télomériques. Afin d'améliorer l'efficacité de l'étude méiotique des i
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Kutsche, Kerstin, Walter Werner, Oliver Bartsch, der Wense Axel von, Peter Meinecke, and Andreas Gal. "Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-137662.

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The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder with male lethality. In the majority of the patients reported, the MLS syndrome is caused by segmental monosomy of the Xp22.3 region. To date, five male patients with MLS and 46,XX karyotype (“XX males”) have been described. Here we report on the first male case with MLS and an XY complement. The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his p
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Kutsche, Kerstin, Walter Werner, Oliver Bartsch, der Wense Axel von, Peter Meinecke, and Andreas Gal. "Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp." Karger, 2002. https://tud.qucosa.de/id/qucosa%3A27747.

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The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder with male lethality. In the majority of the patients reported, the MLS syndrome is caused by segmental monosomy of the Xp22.3 region. To date, five male patients with MLS and 46,XX karyotype (“XX males”) have been described. Here we report on the first male case with MLS and an XY complement. The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his p
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Książki na temat "Paracentric inversion"

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McKinlay Gardner, R. J., and David J. Amor. Inversions. Edited by R. J. McKinlay Gardner and David J. Amor. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199329007.003.0009.

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Inversions are intrachromosomal structural rearrangements. The most common is the simple (or single) inversion. If the inversion coexists with another rearrangement in the same chromosome, it is a complex inversion. In an inversion, a segment of chromosome is switched 180 degrees. If this segment includes the centromere, this is a pericentric inversion; if not, it is a paracentric inversion. In principle, and almost always in practice, it is only the pericentric inversion that conveys an important genetic risk to carriers of the inversion: Their children may inherit a “recombinant” chromosome
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Części książek na temat "Paracentric inversion"

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Quinonez, Shane C., Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, and Catherine E. Keegan. "Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency." In JIMD Reports. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/8904_2016_9.

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"Inversion, Paracentric." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_8703.

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"Paracentric Inversion." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_12262.

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Streszczenia konferencji na temat "Paracentric inversion"

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Diniz, Maria Ondina Machado, Jordana Gaudie Gurian, Amanda Nascimento Bispo, et al. "Pseudotumoral demyelinating lesion in a teenager, case report." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.357.

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Introduction: Pseudotumor lesions are an atypical presentation of demyelinating diseases, commonly associated with Multiple Sclerosis (MS) of different varieties (Balo, Schilder and Marburg) and occasionally linked to other demyelinating processes, such as MOGAD, ADEM and NMOSD. Estimated prevalence of three cases per million per inhabitant and occurrence of 1.4–8.2% in patients with MS. Objectives: To report a case of Pseudotumoral Demyelinating Lesion (PDL) in a teenager, attended at the General Hospital of Goiânia. Methods: Information obtained through clinical follow-up in a Neurology ward
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