Relevant bibliographies by topics / Homozygosis

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Homozygosis'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Homozygosis"

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Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Bruno Girolami, and Maria L. Randi. "Thrombotic Events in Homozygotes with a Proven or Highly Probable Arg304Gln Factor VII Mutation (FVII Padua)1): Only Limited Replacement Therapy is Needed in Case of Surgery." Cardiovascular & Hematological Disorders-Drug Targets 19, no. 3 (2019): 233–38. http://dx.doi.org/10.2174/1871529x19666190308114842.

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Objective: To investigate the prevalence of thrombotic events among patients with proven or highly probable homozygosis for the Arg304Gln (Factor VII Padua) defect or compound heterozygosis containing the Arg304Gln mutation. Methods: Homozygotes and compound heterozygotes proven by molecular studies to have the Arg304Gln mutation were gathered from personal files and from two PubMed searches. In addition, patients with probable homozygosis on the basis of clotting tests (discrepancies among Factor VII activity levels according to the tissue thromboplastin used) were also gathered. Results: 30
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Balgir, R. S. "CONTRIBUTION OF MARITAL DISTANCE TO COMMUNITY INBREEDING, HOMOZYGOSIS, AND REPRODUCTIVE WASTAGE FOR RECESSIVELY INHERITED GENETIC DISORDERS IN MADHYA PRADESH, INDIA." Mediterranean Journal of Hematology and Infectious Diseases 5, no. 1 (2013): e2013063. http://dx.doi.org/10.4084/mjhid.2013.063.

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Background: Recessively inherited genetic disorders such as sickle cell anemia and β-thalassemia are commonly encountered in heterozygous and homozygous form in India. These hemolytic disorders cause a high degree of reproductive wastage in vulnerable communities. Inbreeding is usually the mating between two related individuals. Homozygosis is antagonistic process of heterosis.Purpose: This study was aimed at finding reproductive outcome in carrier couples of sickle cell disease, and β-thalassemia in terms of reproductive wastage in relation to varied marital distance between partners in Madhy
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Kuzmina, N. V., V. I. Dmitrieva, D. N. Koltsov, and M. E. Gontov. "Influence of homozygosis by marker alleles of blood groups on the productivity, reproductive qualities and longevity of cows." Agricultural Science Euro-North-East 20, no. 5 (2019): 488–97. http://dx.doi.org/10.30766/2072-9081.2019.20.5.488-497.

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Currently, in populations of different cattle breeds there is elimination of a number of alleles of blood groups and an in-crease in the homozygosity coefficient that leads to rise in the amount of homozygous animals. In this regard, the aim of the research was to study the effect of homozygosity by EAV-locus of blood groups on the productive and reproductive characteristics of cows. The research was carried out on the farms of the Smolensk region for breeding of Sychevskaya cattle breed: the “Rybkovskoye” breeding farm and pedigree breeding unit Agricultural Production Cooperative (APC) named
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ESQUISSATO, GIOVANA N. M., JULIANE R. DE SANT'ANNA, CLAUDINÉIA C. S. FRANCO, LÚCIA J. ROSADA, PAULA A. S. R. DOS SANTOS, and MARIALBA A. A. DE CASTRO-PRADO. "Gene homozygosis and mitotic recombination induced by camptothecin and irinotecan in Aspergillus nidulans diploid cells." Anais da Academia Brasileira de Ciências 86, no. 4 (2014): 1703–10. http://dx.doi.org/10.1590/0001-3765201420130106.

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Mitotic recombination is a process involved in carcinogenesis which can lead to genetic loss through the loss of heterozygosity. The recombinogenic potentials of two anticancer drugs topoisomerase I inhibitors, camptothecin (CPT) and irinotecan (CPT-11), were evaluated in the present study. The homozygotization assay, which assess the induction of mitotic recombination and gene homozygosis, as well as the heterozygous A757//UT448 diploid strain of Aspergillus nidulans were employed. The three non-cytotoxic concentrations of CPT (3.5 ng mL−1, 10.5 ng mL−1 and 17.4 ng mL−1) were found to induce
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Cardoso, Antonio Ismael Inácio. "Depression by inbreeding after four sucessive self-pollination squash generations." Scientia Agricola 61, no. 2 (2004): 224–27. http://dx.doi.org/10.1590/s0103-90162004000200016.

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The strategy for breeding F1 hybrid squash is to develop parental lines through self-pollination. However, it increases plant mean homozygosis, which is not the natural genetic state of a cross-pollinated species, and can cause "inbreeding depression". The objective of this work was to evaluate this depression with sucessive generations of self-pollination (without selection) in Cucurbita moschata, cv. Piramoita. Populations were obtained from lines with one to four generations of self-pollination (obtained by the SSD method), from the original cv. Piramoita (population S0). Randomized blocks
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Mackay, Trudy F. C. "Transposable element-induced fitness mutations in Drosophila melanogaster." Genetical Research 48, no. 2 (1986): 77–87. http://dx.doi.org/10.1017/s0016672300024794.

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SummaryP element mutagenesis was used to contaminate M strain second chromosomes with P elements. The contaminated lines were compared to uncontaminated control lines for homozygous and heterozygous fitness and its components. Mean homozygous fitness, viability and fertility of chromosome lines contaminated with P elements is decreased relative to the uncontaminated control lines by, respectively, 55, 28 and 40%. Variance among contaminated homozygous lines of total fitness increases by a factor of 1·5, variance of viability by a factor of 5·9, and variance of fertility by a factor of 1·9, com
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Romero-Cortadellas, Lídia, Gonzalo Hernández, Xènia Ferrer-Cortès, et al. "New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation." International Journal of Molecular Sciences 23, no. 8 (2022): 4406. http://dx.doi.org/10.3390/ijms23084406.

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Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the SLC11A2 gene. DMT1 has a vital role in iron homeostasis by mediating iron uptake in the intestine and kidneys and by recovering iron from recycling endosomes after transferrin endocytosis. Mutations in SLC11A2 cause an ultra-rare hypochromic microcytic anemia with iron overload (AHMIO1), which has been described in eight patients so far. Here, we report two novel cases of this disease. The first proband is homozygous for a new SLC11A2 splicing variant (c.762 + 35A > G), becoming the first ever patient re
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Enloe, Brian, Aviva Diamond, and Aaron P. Mitchell. "A Single-Transformation Gene Function Test in DiploidCandida albicans." Journal of Bacteriology 182, no. 20 (2000): 5730–36. http://dx.doi.org/10.1128/jb.182.20.5730-5736.2000.

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ABSTRACT The fungal pathogen Candida albicans is naturally diploid, and current gene disruption strategies require two successive transformations. We describe here a genetic construct (UAU1) for which two copies may be selected. Insertion ofUAU1 into one genomic site, after a single transformation, allows selection for segregants with two copies of the insertion. Major classes of segregants are those carrying homozygous insertion mutations and allelic triplications, which have two insertion alleles and a wild-type allele. Thus nonessential and essential genes may be distinguished rapidly throu
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Luciani, Matteo, Valeria Pansini, Valentina Coletti, et al. "Metylenetetrahydrofolate Reductase Polymorphism and Venous Thrombosis in Children." Blood 112, no. 11 (2008): 5357. http://dx.doi.org/10.1182/blood.v112.11.5357.5357.

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Abstract The venous thromboembolism is a serious and complex pathological condition especially for its potential complications. It is related to both congenital and acquired factors. Among the congenital factors, different mutations have been identified leading to a reduced activity of enzymes (even higher than 50%) involved in the homocysteine-methyonine methabolic pathway, such as the methylenetetrahydrofolate reductase enzyme (MTHFR). The homozygotic TT genotype is found in approximately 10–12% of the population and is associated with a 25% higher homocisteine level in these patients than t
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Brancati, C., M. Caracciolo, M. Bria, M. G. Bisconte, and A. Qualtieri. "HB G-San Jose Homozygosis in a Calabrian Family." Hemoglobin 13, no. 5 (1989): 497–503. http://dx.doi.org/10.3109/03630268908998089.

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Dissertations / Theses on the topic "Homozygosis"

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Wang, Hui. "Extended homozygosity in high density genotyping." Diss., Restricted to subscribing institutions, 2006. http://proquest.umi.com/pqdweb?did=1276395171&sid=1&Fmt=2&clientId=1564&RQT=309&VName=PQD.

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Mitchell, Wayne Adolphus. "The molecular genetics of Turkish variant late infantile neuronal ceroid lipofuscinosis (LINCL)." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.250660.

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Gazal, Steven. "La consanguinité à l'ère du génome haut-débit : estimations et applications." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T026/document.

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Un individu est dit consanguin si ses parents sont apparentés et s’il existe donc dans sa généalogie au moins une boucle de consanguinité aboutissant à un ancêtre commun. Le coefficient de consanguinité de l’individu est par définition la probabilité pour qu’à un point pris au hasard sur le génome, l’individu ait reçu deux allèles identiques par descendance qui proviennent d’un seul allèle présent chez un des ancêtres communs. Ce coefficient de consanguinité est un paramètre central de la génétique qui est utilisé en génétique des populations pour caractériser la structure des populations, mai
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McQuillan, Ruth. "Homozygosity, inbreeding and health in European populations." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/5946.

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Inbreeding results in increased levels of homozygosity for deleterious recessive alleles, leading to increased incidence of monogenic disease in inbred families. It has also been suggested that inbreeding increases the risk of diseases such as cancer and heart disease, implying a role for the combined effects of many recessive alleles distributed across the genome. A better understanding of the links between inbreeding, homozygosity and disease is therefore of interest to those concerned with understanding the genetic architecture of complex disease. A homozygous genotype is defined as autozyg
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Leung, Kwok-yin, та 梁國賢. "Prenatal ultrasound prediction of homozygous α⁰-thalassemia". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B47454039.

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Homozygous α0-thalassemia is a serious autosomal recessive disorder with poor fetal outcome and severe maternal complications. Conventionally, prenatal diagnosis is performed by an invasive test. A non-invasive approach using serial ultrasonography can effectively reduce the need for invasive tests in unaffected pregnancies. For two-dimensional ultrasound prediction, a total of 777 at-risk fetuses were studied from 12 to 20 weeks between 1995 and 2006. At 12–15 weeks’ gestation, the highest sensitivity (98.3%) was achieved by the combination of fetal cardiothoracic ratio (CTR) and/o
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Mehawej, Cybel. "Identification de gènes impliqués dans des dysplasies osseuses rares dans des familles libanaises consanguines." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T048/document.

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La pratique du mariage entre apparentés au sein de la population libanaise, favorisée par des raisons sociales, religieuses, géographiques et aussi politiques, a vu apparaître des sous-groupes de populations de taille plus ou moins réduite, parfois à la limite d’isolats génétiques. Ceci a engendré une augmentation de la prévalence des maladies autosomiques récessives fréquentes mais aussi et surtout rares. Parmi ces dernières, les chondrodysplasies ont retenu notre attention. Elles sont caractérisées par un retard statural dû à un défaut du processus d’ossification endochondale, qui est respon
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Serpedin, Nesrin. "Abnormal reproductive function in female homozygous leaner mice." Texas A&M University, 2003. http://hdl.handle.net/1969.1/559.

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The leaner mouse carries an autosomal recessive mutation in the α1A subunit of neuronal P/Q-type voltage gated calcium ion channels. Due to this mutation, the leaner mouse exhibits severe ataxia, absence seizures and paroxysmal dyskinesia. Mutations in this same gene in humans cause: episodic ataxia type 2, familial hemiplegic migraine, spinocerebellar ataxia type 6 and probably the newly recognized form of human inherited epilepsy. Decreased amplitude of calcium current in cerebellar Purkinje cells and decreased calcium buffering capacity suggest that failure of calcium homeostasis may lea
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Singhal, Atul. "Growth and metabolism in homozygous sickle cell disease." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.288009.

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Peripolli, Elisa [UNESP]. "Characterization of runs of homozygosity in Gyr cattle genome." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/149772.

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Flegel, Willy A. "Häufigkeit sporadischer nicht-funktionaler Allele und ihre Bedeutung für die Genotypisierung am Beispiel des Polymorphismus im FUT1-Blutgruppengen." Ulm : Universität Ulm, Medizinische Fakultät, 1997. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB8412711.

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Books on the topic "Homozygosis"

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National Confidential Enquiry into Counselling for Genetic Disorders. Steering Committee. Homozygous beta thalassaemias: Great Britain, 1990-1994. The Committee, 1998.

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Aippersbach, Elke Daniela. Targeted disruption of the Grb4 and Nck loci and generation of homozygous null NCK mice. National Library of Canada, 1998.

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Hilton, Claire Fiona. Psychiatric disorder in a group of young adults with homozygous sickle cell disease compared to an age and sex matched control group with normal haemoglobin in the Jamaican Cohort study. University of Manchester, 1995.

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Kämmerle, Klaus. Vertauschbare bisexuelle Populationsmodelle: Asymptotische Ergebnisse zu Vorfahren und Aussterbewahrscheinlichkeiten sowie Fragen der Homozygotie. 1989.

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Hadzic, Dino. Alpha-1 antitrypsin deficiency. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198759928.003.0055.

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The chapter on alpha-1 antitrypsin deficiency describes the genetics and the pathogenesis of this disorder as well as the clinical features of the homozygous PiZ alpha-1 antitrypsin deficiency and its management.
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Rektor, Wolfgang. Typ-III-Hyperlipoproteinämie bei Patienten ohne E-2/2-Homozygotie: Charakterisierung des Apoprotein E. 1991.

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Production of Doubled Haploid Transgenic Wheat: Transformation of microspores and regeneration of homozygous transformants. VDM Verlag, 2009.

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McLean, Derek J. Identification of a mechanism underlying heritable subfertility in roosters homozygous for the rose comb allele. 1997.

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Giangrande, Paul L. F. Haemoglobinopathies. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199550647.003.0005.

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♦ Haemoglobinopathies are commonly inherited disorders of haemoglobin synthesis♦ Thalassaemia is commonest around the Mediterranean countries and has skeletal manifestations due to massive marrow expansion with thinning of the cortex♦ Sickle cell crises occur in homozygotes and are a result of venous occlusion causing avascular necrosis. Infection and exposure to cold can sometimes precipitate these painful events♦ If surgery is needed blood cross-match must be carefully performed in advance, the theatre should be kept warm, and the hydration and acid/base balance of the patient monitored care
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Lance, Eboni I., and Andrew W. Zimmerman. Sickle Cell Anemia. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0079.

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Sickle cell disease is a genetic hematological disorder involving red blood cells that become deformed when stressed. Patients with homozygous hemoglobin SS disease often have multiple systemic and neurologic complications, particularly stroke. Intellectual disability is commonly seen in the population, in patients with and without a history of stroke, attributed to different underlying mechanisms of brain injury. Autism is rare and not described in sickle cell disease in the literature to date. Many treatments (chronic transfusion therapy, hydroxyurea, bone marrow transplant) are in trials at
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Book chapters on the topic "Homozygosis"

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Arnemann, J. "Homozygotie." In Springer Reference Medizin. Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3624.

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Arnemann, J. "Homozygotie." In Lexikon der Medizinischen Laboratoriumsdiagnostik. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3624-1.

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Flici, Hakima. "Homozygosity." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-47829-6_59-1.

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Flici, Hakima. "Homozygosity." In Encyclopedia of Animal Cognition and Behavior. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-319-55065-7_59.

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Capinera, John L., Thomas O. Crist, John B. Heppner, et al. "Homozygous." In Encyclopedia of Entomology. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6359-6_1375.

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Orbell, Sheina, Havah Schneider, Sabrina Esbitt, et al. "Homozygous." In Encyclopedia of Behavioral Medicine. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1005-9_703.

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Frazier, Mysti S. "Homozygous." In Encyclopedia of Child Behavior and Development. Springer US, 2011. http://dx.doi.org/10.1007/978-0-387-79061-9_1385.

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Rodriguez-Murillo, Laura, and Rany M. Salem. "Homozygous." In Encyclopedia of Behavioral Medicine. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-39903-0_703.

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Gooch, Jan W. "Homozygous." In Encyclopedic Dictionary of Polymers. Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-6247-8_13940.

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Chauhan, Sakshi, Niraj Kumar Jha, Saurabh Kumar Jha, and Abhimanyu Kumar Jha. "Homozygosity: Trait Heritability." In Encyclopedia of Sexual Psychology and Behavior. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-08956-5_24-1.

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Conference papers on the topic "Homozygosis"

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Tieppo, Eduardo Macedo de Souza, Miriam Eva Koch, and Alzira Alves de Siqueira Carvalho. "A deletion in CFL-2 gene associated with Severe Nemaline Myopathy with peculiar features." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.362.

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Context: Nemaline myopathy (NM) is the most common congenital myopathy characterized by muscle weakness and presence of nemaline bodies (rods) in muscle biopsy. Phenotype ranges from neonatal death to normal lifespan. 13 genes have been reported. We describe a new variant in cofilin 2 gene (CFL2;OMIM*601443). Case report: A 5-year-old boy born severely hypotonic and unable to breathe, in need of mechanic ventilation. Healthy non-consanguineous parents. Physical examination: severe hypotonia with only extraocular motricity preserved and multiple contractures. Dysmorphic features were observed a
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Farias, Igor Braga, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, et al. "Clinical and genetic profile of Brazilian patients with dysferlinopathies – A retrospective study." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.054.

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Introduction: Dysferlinopathies are a group of conditions that are caused by mutations in the dysferlin gene. Objectives: To characterize the clinical phenotypes and genotypic spectrum of dysferlinopathies patients and to estimate the progression of functional and motor decline. Design and setting: Retrospective analysis of the medical records of patients followed up at our institution between 1995 and 2020. Methods: Patients were selected based on the following inclusion criteria:(i) Identification of a mutation defined as pathogenic in homozygosis or compound heterozygosis in the Dysf gene;o
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Castaman, G., F. Rodeghiero, and M. Ruggeri. "HOMOZYGOUS FACTOR XII CONGENITAL DEFICIENCY: STUDY OF 10 NEW FAMILIES." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643300.

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Sporadic cases of thromboembolic events have been reported in patients with congenital factor XII deficiency and a relationship with a reduced intrinsic fibrinolysis has been suggested.We report here the results of clinical and laboratory investigations in 10 new families comprising 15 homozygotes (age 16-72) and 14 heterozygotes (age 18-65).In homozygotes, kaolin-activated-PTT was indefinitely prolonged and F XII activity and antigen were undetectable, whereas functional assays . of high molecular weight kininogen ahd kallikrein yielded normal values. Intrinsic fibrinolytic activity - assayed
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Silva, Ana Marina Dutra Ferreira da, Igor Dias Brockhausen, Alessandra Lima Nogueira Tolentino, Ana Laura Moura, and Alzira Alves de Siqueira Carvalho. "A467T variant of the polg gene: description of two clinical cases." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.669.

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Introduction: Variations in the POLG gene are the most common causes of mitochondrial disease of autosomal inheritance, and may be present in about 2% of the population. Case report: Case 1. CMAM, male, 48-year-old, complaining of bilateral eyelid ptosis with onset in adolescence. Since the age of six, he has been diagnosed with epilepsy. After five years of follow-up, he developed sensory ataxia. After 10 years he began to present dysarthria, dysphagia, tremor and pyramidal syndrome. Case 2. ASB, female, 42 years old, at 20 years old presented generalized clonic tonic crisis during the second
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Kurat, Stephan, Adam Horvath, Stefanie Flunkert, Hoa Huu Phuc Nguyen, Robert Wronski, and Birgit Hutter-Paier. "B03 Behavioral characterization of homozygous BACHD rats." In EHDN 2018 Plenary Meeting, Vienna, Austria, Programme and Abstracts. BMJ Publishing Group Ltd, 2018. http://dx.doi.org/10.1136/jnnp-2018-ehdn.55.

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Михайлов, Михаил. "ЦИС-эффект гомозиготного генетического фона на частоту кроссинговера у кукурузы". У VIIth International Scientific Conference “Genetics, Physiology and Plant Breeding”. Institute of Genetics, Physiology and Plant Protection, Republic of Moldova, 2021. http://dx.doi.org/10.53040/gppb7.2021.18.

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The cys-effect of homozygous background on crossing over in maize. From the inbred maize lines MK01 and Ku123, the isogenic lines containing mutant markers lg1, gl2, c1, sh1, wx1 were obtained. They differ from original forms by pair of mutant markers. The hybrids of isogenic lines with the original forms are heterozygous only within marked region and are almost homozygous in the rest of the genome. Homozygous background leads to increase of mean recombination rate from 5.4% to 10.1% in c1-sh1, from 15.0% to 35.6% in s1-wx1 and from 18.2% to 32.8% in lg1-gl2.
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EL JAMMAL, Thomas, Alain Calender, Pascal Sève, and Yves Pachéco. "Homozygous mutations of ARFGAP1 gene in severe sarcoidosis." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1075.

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Soboleva, E. S., V. S. Fedorova, V. A. Burlak, M. V. Sharakhova, and G. N. Artemov. "INVERSION POLYMORPHISM OF NATURAL POPULATIONS ANOPHELES BEKLEMISHEVI STEGNII ET KABANOVA IN WESTERN SIBERIA." In V International Scientific Conference CONCEPTUAL AND APPLIED ASPECTS OF INVERTEBRATE SCIENTIFIC RESEARCH AND BIOLOGICAL EDUCATION. Tomsk State University Press, 2020. http://dx.doi.org/10.17223/978-5-94621-931-0-2020-35.

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The geographical distribution and inversion polymorphism of malaria mosquitoes Anopheles beklemishevi Stegnii et Kabanova in the West Siberia were investigated. X chromosome homozygous cytotypes were defined by fluorescent in situ hybridization of microdissected DNA-probe, labeling the breakpoints region of X chromosome inversions. For the first time the samples, which are homozygous and hemizygous by inversions X1 и X2 were detected. Cytotypes representation and frequencies have not differences between northern and southern (Altay) population of the malaria mosquitoes.
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Petrova, Guergana, Mila Baycheva, Dimitrinka Miteva, et al. "Late diagnosed homozygous delF508 patients - is it really rare?" In Adult Cystic Fibrosis Conference abstracts. European Respiratory Society, 2023. http://dx.doi.org/10.1183/23120541.acf-2023.2.

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Soma, P., B. B. Kooverjee, and M. M. Scholtz. "223. Runs of homozygosity in Nguni and Bonsmara cattle populations." In World Congress on Genetics Applied to Livestock Production. Wageningen Academic Publishers, 2022. http://dx.doi.org/10.3920/978-90-8686-940-4_223.

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Reports on the topic "Homozygosis"

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Grueso-Navarro, Elena, Leticia Rodríguez-Alcolado, Ángel Arias, Emilio J. Laserna-Mendieta та Alfredo J. Lucendo. Influence of HLA-DQA1*05 allele in the response to anti-TNFα drugs in inflammatory bowel diseases. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.2.0076.

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Review question / Objective: Do patients with inflammatory bowel disease and treated with any anti-TNFα drug who had the HLA-DQA1*05 allele (in heterozygosis or homozygosis) have lower response or persistence to those drugs than patients without HLA-DQA1*05 allele? Condition being studied: Inflammatory bowel diseases (IBD), which includes Crohn’s disease (CD) and ulcerative colitis (UC), is a chronic inflammatory condition that may affect any part of the digestive tract (CD) or be limited to the colon (UC). While the specific aetiology of IBD remains unknown, it is believed to involve a comple
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Fast, L. D., C. R. Valeri, and J. P. Crowley. Immune Responses to MHC Homozygous Lymphoid Cells in Murine F1 Hybrid Recipients: Implications for Transfusion Associated Graft-Versus Host Disease. Defense Technical Information Center, 1994. http://dx.doi.org/10.21236/ada360361.

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Kurimasa, Akihiro, Sandeep Burma, Melinda Henrie, et al. Disruption of NBS1 gene leads to early embryonic lethality in homozygous null mice and induces specific cancer in heterozygous mice. Office of Scientific and Technical Information (OSTI), 2002. http://dx.doi.org/10.2172/943450.

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Veilleux, Richard E., Jossi Hillel, A. Raymond Miller, and David Levy. Molecular Analysis by SSR of Genes Associated with Alkaloid Synthesis in a Segregating Monoploid Potato Family. United States Department of Agriculture, 1994. http://dx.doi.org/10.32747/1994.7570550.bard.

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More than 15,000 anthers of an interspecific hybrid (CP2) between two diploid (2n=2x=24) potato species, Solanum chacoense (weedy) and S. phureja (cultivated), were cultured to generate a family of monoploid (haploid, 2n-1x=12) plants. Of 260 regenerated plants, 34 were monoploid, 210 diploid and 16 tetraploid. SSR analysis revealed that six monoploids were genetically identical and 14 diploids were homozygous, thus limiting the population to 42 (28 monoploids and 14 homozygous diploids). New microsatellite loci were developed for potato from database sequences (15), a conventional genomic lib
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จันทร์ประทีป, พีระศักดิ์, สุมลยา กาญจนะพังคะ, ประโยชน์ ตันติเจริญยศ та กัลยาณี ตันศฤงฆาร. ความเป็นมาและสถานภาพปัจจุบันของโรคสมองฟ่ามในโค (โคบ้า) : รายงานการวิจัย. จุฬาลงกรณ์มหาวิทยาลัย, 1998. https://doi.org/10.58837/chula.res.1998.81.

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โรคสมองฟ่ามหรือโคบ้า (Bovine Spongiform Encephalopathy, BSE) เป็นโรคระบาดร้ายแรงที่เกิดขึ้น.ในสหราชอาณาจักรเป็นส่วนใหญ่ ทำความเสียหายทางเศรษฐกิจอย่างมหาศาล จำเป็นต้องกำจัดโคถึง 1 ล้านตัวเพื่อกำจัด BSE ให้หมดไป ยิ่งไปกว่านั้น BSE อาจเป็นอันตรายแก่สุขภาพและชีวิตมนุษย์ด้วย BSE เป็นโรคหนึ่งใน transmissible spongiform encephalopathies (TSEs) โดยมี prion protein เป็นสารก่อโรคที่ทำความเสียหายแก่ระบบประสาท และทำให้คนหรือสัตว์ตายในที่สุด พบเนื้อสมองทั้งส่วน cerebrum และ cerebellum เป็นรูพรุน และอาจพบ plaques และ scrapie-associated fibrils (SAF) ในเนื้อสมองด้วย การศึกษาทางระบาดวิทยาชี้แนะว่าการแพร่ของ B
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Juvik, John A., Avri Bar Zur, and Torbert R. Rocheford. Breeding for Quality in Vegetable Maize Using Linked Molecular Markers. United States Department of Agriculture, 1993. http://dx.doi.org/10.32747/1993.7568764.bard.

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Recently, the vegetable corn industry has shifted from the use of traditional cultivars with the sugary1 (su1) endosperm mutation to newer hybrids homozygous for the shrunken2 (sh2) or sugary enhancer1 (se1) genes. With greater kernel sucrose content, these hybrids are preferred by consumers and retain sugar for longer post harvest periods, providing the industry with more time to marker products with superior quality. Commercialization has been hindered, however, by reduced field emergence, and the establishment of stands with heterogeneous uniformity and maturities. This investigation was co
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Smith, Margaret, Nurit Katzir, Susan McCouch, and Yaakov Tadmor. Discovery and Transfer of Genes from Wild Zea Germplasm to Improve Grain Oil and Protein Composition of Temperate Maize. United States Department of Agriculture, 1998. http://dx.doi.org/10.32747/1998.7580683.bard.

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Project Objectives 1. Develop and amplify two interspecific populations (annual and perennial teosintes x elite maize inbred) as the basis for genetic analysis of grain quality. 2. Identify quantitative trait loci (QTLs) from teosinte that improve oil, protein, and essential amino acid composition of maize grain. 3. Develop near isogenic lines (NILs) to quantify QTL contributions to grain quality and as a resource for future breeding and gene cloning efforts. 4. Analyze the contribution of these QTLs to hybrid performance in both the US and Israel. 5. Measure the yield potential of improved gr
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Smith, Margaret, Nurit Katzir, Susan McCouch, and Yaakov Tadmor. Discovery and Transfer of Genes from Wild Zea Germplasm to Improve Grain Oil and Protein Composition of Temperate Maize. United States Department of Agriculture, 2002. http://dx.doi.org/10.32747/2002.7695846.bard.

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Project Objectives 1. Develop and amplify two interspecific populations (annual and perennial teosintes x elite maize inbred) as the basis for genetic analysis of grain quality. 2. Identify quantitative trait loci (QTLs) from teosinte that improve oil, protein, and essential amino acid composition of maize grain. 3. Develop near isogenic lines (NILs) to quantify QTL contributions to grain quality and as a resource for future breeding and gene cloning efforts. 4. Analyze the contribution of these QTLs to hybrid performance in both the US and Israel. 5. Measure the yield potential of improved gr
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Bennett, Alan, and Arthur Schaffer. Sucrose Metabolism in Developing Fruit of Wild and Cultivated Lycopersicon Species. United States Department of Agriculture, 1996. http://dx.doi.org/10.32747/1996.7613009.bard.

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The project focused on a strategy to enhance tomato fruit soluble solids by evaluating components of carbohydrate metabolism in fruit of wild tomato species that accumulate sucrose rather than hexose and have extremely high soluble sugar contents. The overall goal was to determine the extent to which sucrose accumulation contributes to elevated soluble solids levels and to understand the underlying genetic and biochemical basis of the trait. The research objectives were to evaluate near isogenic L. esculentum lines segregating for sucrose- and hexose-accumulation, determine the biochemical bas
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Gootwine, Elisha, David Thomas, Ruth Braw-Tal, Amir Bor, and P. J. Dziuk. Improvement of Prolificacy of Israeli and U.S. Sheep Breeds through Inclusion of the F Gene of the Booroola Merino-Stage II. United States Department of Agriculture, 1995. http://dx.doi.org/10.32747/1995.7604931.bard.

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The purposes of this project were: 1) to introduce the FecB gene to the Awassi and Assaf breeds in Israel and the Rambouillet breed in the U.S.A. aiming in the long run to establish Awassi, Assaf and Rambouillet nucclei breeding flocks homozygous for the F gene in which the contribution of the Booroola Merino genetic background will be less than 10%; (In the U.S., Booroola crosses with Suffolk and Targhee were also studied. 2) to evaluate the effect of the FecB gene and different proportions of Booroola Merino genetic background on lamb survival, growth, milk production and wool production in
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