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Rozprawy doktorskie na temat „X-linkage”

Autor: Grafiati

Data publikacji: 2 czerwca 2025

Data aktualizacji: 31 lipca 2025

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Sprawdź 19 najlepszych rozpraw doktorskich naukowych na temat „X-linkage”.

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1

Millwood, Iona Y. "A genetic linkage map of the rat X chromosome." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.390530.

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2

Kirchgessner, Cordula U. "The Human Synapsin I Gene: Linkage Mapping on the X Chromosome: A Dissertation." eScholarship@UMMS, 1991. http://escholarship.umassmed.edu/gsbs_diss/241.

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In this dissertation I describe the isolation and characterization of genomic clones for the human synapsin I gene, the establishment of a linkage map for the human synapsin I gene locus, and studies of the possible involvement of this gene in neurological disease. Synapsin I is a neuron-specific phosphoprotein which is concentrated at the presynaptic terminal. Evidence suggests that it plays a fundamental role in the regulation of neurotransmitter release. Altogether 27,500 bp of the human synapsin I gene have been isolated, and the gene structure has been partially determined. DNA sequence c

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3

Yu, Sui. "Molecular basis of fragile X syndrome /." Title page, contents and summary only, 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phy937.pdf.

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4

Suthers, Graeme Kemble. "The human gene map near the fragile X /." Title page, table of contents and summary only, 1990. http://web4.library.adelaide.edu.au/theses/09PH/09phs966.pdf.

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Thesis (Ph. D.)--Dept. of Paediatrics, Faculty of Medicine, University of Adelaide, 1991.<br>Typescript (Photocopy). Includes published papers co-authored by the author at the end of volume 2. Includes bibliographical references (leaves 195-237 of vol. 1).

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5

Yariz, Kemal Oral. "The Chronicles of X-Linked Spinal Muscular Atrophy: The Linkage, The Gene and The SMN Complex." Scholarly Repository, 2008. http://scholarlyrepository.miami.edu/oa_dissertations/115.

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Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease. SMA is associated with homozygous mutations in the Survival of Motor Neuron gene I (SMN1). SMN protein does not appear to exist in cells in isolation but associates with several proteins to form a large multi-protein complex. The functions of SMN complex include assembly, metabolism and transport of diverse classes of ribonucleoproteins. X- Linked Spinal Muscular Atrophy is a rare congenital disorder characterized by multiple joint contractures. It is associated with hypotonia, areflexia, chest deformities and cong

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6

Lenz, Ryan Rae. "A Novel Genetic Linkage Map of Chokecherry (Prunus Virginiana L.) and QTL Mapping for X-Disease (Candidatus Phytoplasma Pruni) Resistance." Thesis, North Dakota State University, 2016. https://hdl.handle.net/10365/28063.

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A novel chokecherry genetic linkage map was constructed using 565 molecular markers and a previously published mapping population (n=101). Chokecherry (Prunus virginiana L.) is a potential model for genetic research of phytoplasmic diseases because of its natural resistance to X-disease (Candidatus Phytoplasma pruni). The novel chokecherry map was developed using JoinMap 4.0 and contains a complete set of 16 linkage groups. In total, the map spans a genetic distance of 2,172 cM with an average marker density of 3.97 cM. Three significant quantitative trait loci (QTL) associated with X-disease

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7

Adler, David A. "A tale of two x-linked genes : gene expression, localization and the Ohno hypothesis /." Thesis, Connect to this title online; UW restricted, 1996. http://hdl.handle.net/1773/6344.

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8

Lapsys, Naras Mykolas. "The FRA 16B locus : long range restriction mapping of 16q13-16q22.1 /." Title page, table of contents and summary only, 1993. http://web4.library.adelaide.edu.au/theses/09PH/09phl317.pdf.

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9

Marondedze, Claudius. "Functional genomic characterization of fruit quality traits in apple (Malus x domestica Borkh)." Thesis, University of the Western Cape, 2009. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_7794_1286309138.

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<p>&nbsp<br></p> <p align="left">The domesticated apple (<i><font face="TimesNewRomanPS-ItalicMT">Malus </font><font face="TimesNewRomanPSMT">x </font><i><font face="TimesNewRomanPS-ItalicMT">domestica </font><font face="TimesNewRomanPSMT">Borkh.), belonging to the </font><i><font face="TimesNewRomanPS-ItalicMT">Malus </font><font face="TimesNewRomanPSMT">genus of the Rosaceae family, is one of the edible pomaceous fruits. Since it is one of the important commercial fruit crops worldwide, the quality of the fruit is crucial to breeders and farmers as it ultimately determines acceptance of a cu

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10

Casaretto, Nicolas. "Dynamique structurale par photocristallographie stationnaire et résolue en temps : développements instrumentaux et applications aux matériaux moléculaires photoisomérisables." Thesis, Université de Lorraine, 2017. http://www.theses.fr/2017LORR0163/document.

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Ce travail de thèse s’inscrit dans l’étude des matériaux moléculaires photo-commutables. L’objectif est le contrôle réversible et persistant des propriétés physiques de la matière par application d’un stimulus externe, tel qu’une excitation optique. Le travail de thèse est constitué de deux parties principales. La première partie traite de la photo-isomérisation des ligands NO dans les complexes de ruthénium di-nitrosyle. Une démarche expérimentale systématique a été effectuée sur trois complexes. La spectroscopie infrarouge et la diffraction des rayons-X ont été utilisées conjointement à bass

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11

Hanauer, André. "Le chromosome x humain : recherche de sequences exprimees et localisation genique de deux loci correspondanta des maladies." Université Louis Pasteur (Strasbourg) (1971-2008), 1989. http://www.theses.fr/1989STR13010.

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Caracterisation d'expressions geniques liees au chromosome x, de 6 sequences genomiques humaines liees au chromosome x; localisation du syndrome coffin-lowry par analyse de linkage et de la dysplasie ectodermique anhidrotique

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12

Väisänen, M. L. (Marja-Leena). "Fragile X syndrome in Northern Finland:molecular, diagnostic and population genetic aspects." Doctoral thesis, University of Oulu, 1999. http://urn.fi/urn:isbn:9514253779.

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Abstract Fragile X syndrome, the most common inherited form of mental retardation syndrome, is caused by an expansion of the CGG trinucleotide repeat in the 5' UTR of the FMR1 gene, with concurrent hypermethylation of the region, which represses FMR1 expression. The syndrome is associated with the folate-sensitive chromosomal fragile site at Xq27.3 (FRAXA), where the gene responsible for the syndrome was first localized by linkage analysis using RFLP markers. In this study the linkage relationships of the RFLP markersat Xq27-28 and the characteristics of the CGG repeat expansion were investiga

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13

Silva, Leonardo Corrêa da. "Caracterização fenotípica de RIL s de feijão derivadas da população Rudá x AND 277." Universidade Federal de Viçosa, 2013. http://locus.ufv.br/handle/123456789/4619.

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Made available in DSpace on 2015-03-26T13:40:00Z (GMT). No. of bitstreams: 1 texto completo.pdf: 927669 bytes, checksum: f83f22161a7d44b4d00efbcaead43a73 (MD5) Previous issue date: 2013-07-16<br>Conselho Nacional de Desenvolvimento Científico e Tecnológico<br>Recombinant inbred lines (RIL s) are useful for building linkage maps. The maintainance the population genetic structure for mapping over their production is important for the construction of accurate maps. The existence of genetic variability within those populations is essential for detection of the association between molecular marke

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14

Meyer, Matthias. "Trockenheitsreaktionen und holzanatomische Eigenschaften der Zitter-Pappel (Populus tremula L.) – Physiologie und QTL-Mapping." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2010. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-38142.

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Holz aus Kurzumtriebsplantagen (KUP) mit Pappeln (Populus spp.) kann eine bedeutende Rolle im Mix der Bioenergieressourcen in Deutschland spielen. Trotz eines günstigen Energieinput-Energieoutput-Verhältnisses ist das Erreichen wirtschaftlich zufriedenstellender Ergebnisse mit KUP jedoch auf den meisten potenziellen Anbauflächen durch hohe Ansprüche der Pappeln an die Wasserversorgung erschwert. Hohe Produktivitätsraten der Pappeln sind an einen hohen Wasserverbrauch gebunden und viele Trockenheitsanpassungen führen zu deutlichen Ertragsrückgängen. In der vorgestellten Arbeit wurde eine sechsj

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15

Doyle, Jacqueline Heidi. "Determining gene flow, linkage and parental contribution in Pinus elliottii X Pinus caribaea pine hybrids." Diss., 2001. http://hdl.handle.net/2263/27551.

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16

Gorski, Sharon M. "Linkage studies of x-linked cleft palate and ankyloglossia in a British Columbia native kindred." Thesis, 1992. http://hdl.handle.net/2429/1367.

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Human craniofacial malformations are a class of common congenital anomalies. Their etiology is heterogeneous and often poorly understood. To elucidate the nature of craniofacial defects at the molecular level, one approach is to study the exceptional examples of malformations which segregate in families as single gene disorders. This study employs such an approach: it is directed toward the isolation of a locus responsible for cleft palate and ankyloglossia which segregate as a single X-linked trait (CPX) in a British Columbia (B.C.) Native kindred. The original description (Lowry 1970) of the

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17

Bethel, Casey M. "A framework linkage map of bermudagrass (Cynodon dactylon x transvaalensis) based on single-dose restriction fragments." 2005. http://purl.galileo.usg.edu/uga%5Fetd/bethel%5Fcasey%5Fm%5F200505%5Fms.

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18

Lapsys, N. M. "The FRA 16B locus : long range restriction mapping of 16q13 - 16q22.1 / by Naras Mykolas Lapsys." 1993. http://hdl.handle.net/2440/21413.

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Errata slip inserted at back<br>Bibliography: leaves 159-192<br>vi, 142, [75] leaves : ill ; 30 cm.<br>Title page, contents and abstract only. The complete thesis in print form is available from the University Library.<br>Summary: Primary object ... was to construct a pulsed field gel electrophoresis (PFGE) derived long range restriction map of this region by physically linking adjacent DNA probes to common high molecular weight genomic DNA fragments<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 1994

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19

Meyer, Matthias. "Trockenheitsreaktionen und holzanatomische Eigenschaften der Zitter-Pappel (Populus tremula L.) – Physiologie und QTL-Mapping." Doctoral thesis, 2009. https://tud.qucosa.de/id/qucosa%3A25310.

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Holz aus Kurzumtriebsplantagen (KUP) mit Pappeln (Populus spp.) kann eine bedeutende Rolle im Mix der Bioenergieressourcen in Deutschland spielen. Trotz eines günstigen Energieinput-Energieoutput-Verhältnisses ist das Erreichen wirtschaftlich zufriedenstellender Ergebnisse mit KUP jedoch auf den meisten potenziellen Anbauflächen durch hohe Ansprüche der Pappeln an die Wasserversorgung erschwert. Hohe Produktivitätsraten der Pappeln sind an einen hohen Wasserverbrauch gebunden und viele Trockenheitsanpassungen führen zu deutlichen Ertragsrückgängen. In der vorgestellten Arbeit wurde eine sechsj

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