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Relevant bibliographies by topics / Dysgenesis / Dissertations / Theses

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Dissertations / Theses on the topic 'Dysgenesis'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Alkhatabi, Heba Ahmed J. "MiR-595, RPL27A and ribosomal dysgenesis." Thesis, King's College London (University of London), 2015. http://kclpure.kcl.ac.uk/portal/en/theses/mir595-rpl27a-and-ribosomal-dysgenesis(fbc10faf-a1e2-4e68-a1bd-3c7f9f2e2c2a).html.

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The importance of miRNAs in regulating gene expression has been addressed in several haematological cancers including myelodysplastic syndrome (MDS). In MDS, miR-145 and miR-146a have been associated with some of phenotypic features of 5q- syndrome. Monosomy 7/7q deletion is the second most common chromosomal abnormality in MDS and identifies a subgroup of patients with poor prognosis. Thus far, no studies have examined the role of miRNA dysregulation in MDS patients with monosomy 7. In this study we examined the functional consequences of deletion of miRNAs localized to 7q with particular foc

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2

Scott, Hayley M. "The role of androgens in testicular development and dysgenesis." Thesis, University of Edinburgh, 2007. http://hdl.handle.net/1842/2687.

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Disorders of male reproductive health which manifest at birth (cryptorchidism, hypospadias) or in young adulthood (testicular germ cell cancer and low sperm counts), are common and may be increasing in incidence. These disorders have a common fetal origin and share risk factors; consequently they are hypothesized to comprise a testicular dysgenesis syndrome (TDS). TDS arises when maldevelopment (dysgenesis) of the fetal testis results in hormonal malfunctions and abnormal development and function of the somatic cells. It is thought that the suppressed intratesticular testosterone levels associ

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3

Black, Donald Macdonald. "The regulation of P-M hybrid dysgenesis in Drosophila melanogaster." Thesis, University of Cambridge, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.254060.

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4

Lynch, Michael. "A molecular study of the I factor of Drosophila melanogaster." Thesis, University of Edinburgh, 1989. http://hdl.handle.net/1842/12494.

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5

Shi, Wei. "Growth and Behaviour : Epigenetic and Genetic Factors Involved in Hybrid Dysgenesis." Doctoral thesis, Uppsala universitet, Zoologisk utvecklingsbiologi, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4784.

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In mammals, the most frequently observed hybrid dysgenesis effects are growth disturbances and male sterility. Profound defects in placental development have been described and our work on hybrids in genus Mus has demonstrated putative hybrid dysgenesis effects that lead to defects in lipid homeostasis and maternal behavior. Interestingly, mammalian interspecies hybrids exhibit strong parent-of-origin effects in that offspring of reciprocal matings, even though genetically identical, frequently exhibit reciprocal phenotypes. Recent studies have provided strong link between epigenetic regulatio

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6

Jackson, Michael Stewart. "KP element regulation of P-M hybrid dysgenesis in Drosophila melanogaster." Thesis, University of Cambridge, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.279913.

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7

Corish, Peter. "Molecular studies of non-cytotype P-M hybrid dysgenesis repression in Drosophila melanogaster." Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.624105.

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8

Cardoso, Ana Paula Ferragut [UNESP]. "Cryptorchidism in the rat: a possible model to study testicular dysgenesis syndrome (TDS)." Universidade Estadual Paulista (UNESP), 2015. http://hdl.handle.net/11449/142997.

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Made available in DSpace on 2016-08-12T18:48:46Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-07-24. Added 1 bitstream(s) on 2016-08-12T18:51:00Z : No. of bitstreams: 1 000865710.pdf: 1668841 bytes, checksum: 8030ce92f1a4268ec44552d556ecb261 (MD5)<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)<br>Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)<br>O criptorquidismo é uma anomalia congênito que afeta de 2 a 4% de meninos recém-nascidos, sendo um importante fator de risco para a infertilidade e tumores testiculares de células germinativas (TTCG). A

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9

Cardoso, Ana Paula Ferragut. "Cryptorchidism in the rat : a possible model to study testicular dysgenesis syndrome (TDS) /." Botucatu, 2015. http://hdl.handle.net/11449/142997.

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Orientador: Samuel Monroe Cohen<br>Coorientador: João Lauro Viana de Camargo<br>Coorientador: Merielen Garcia Nascimento e Pontes<br>Banca: Juliany Quitzan<br>Banca: José Carlos Trindade e Filho<br>Banca: Kátia Ramos Moreira Leite<br>Banca: Wagner José Fávaro<br>Resumo: O criptorquidismo é uma anomalia congênito que afeta de 2 a 4% de meninos recém-nascidos, sendo um importante fator de risco para a infertilidade e tumores testiculares de células germinativas (TTCG). A cirurgia que realoca o testículo no escroto, oquidopexia, deve ser realizada entre 6 e 12 meses de idade, a fim de permitir fe

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10

Sisodiya, Sanjay Mull. "Qualitative and quantitative analysis of MRI data from patients with epilepsy." Thesis, University College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.362884.

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11

Fawcett, Diana Helen. "Sequence analysis of the I factor from Drosophila melanogaster." Thesis, University of Edinburgh, 1987. http://hdl.handle.net/1842/10891.

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12

Ruiz-Arana, Inge-Lore, Angela Hübner, Cigdem Cetingdag, et al. "A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis." Karger, 2015. https://tud.qucosa.de/id/qucosa%3A70585.

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MAMLD1 is suggested to play a role in the development of 46,XY disorders of sexual development (46,XY DSD). So far, mutations in this gene have been detected in several cases of hypospadias with normal testosterone levels at birth. From in vitro studies it was concluded that Mamld1 might transiently affect testosterone synthesis during genital development. We describe the first MAMLD1 mutation in a 46,XY patient with complete gonadal dysgenesis. The novel MAMLD1 missense mutation (p.P677L) results in a severely reduced transactivation in vitro of the promoter of the MAMLD1 target gene HES3/Hes

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13

Exley, Katherine Ann. "Structure, frequency and distribution of P elements in relation to P-M hybrid dysgenesis in Drosophila melanogaster." Thesis, University of Liverpool, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.279706.

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14

Westerlund, Jessica. "Transcriptional regulation of thyroid development : possible interplay of endoderm- and mesoderm-derived morphogenetic signals /." Göteborg : Institute of Biomedicine, Department of Medical Chemistery and Cell Biology, The Sahlgrenska Academy at University of Gothenburg, 2008. http://hdl.handle.net/2077/18338.

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15

Higley, Meghan. "Three Cases in Pediatric Neuroradiology: Athabascan Brainstem Dysgenesis Syndrome, Aicardi Goutières Syndrome, and Aplasia of the Parotid Glands." Thesis, The University of Arizona, 2012. http://hdl.handle.net/10150/221245.

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A Thesis submitted to The University of Arizona College of Medicine - Phoenix in partial fulfillment of the requirements for the Degree of Doctor of Medicine.<br>Summary: The human HOXA1 mutation syndromes commonly present with abnormalities of the inner ear and internal carotid arteries. Previous cases describe varying degrees of hypoplasia or aplasia of the affected structures, often with asymmetrical involvement. We present imaging findings documenting complete absence of the internal carotid arteries bilaterally with bilateral Michel aplasia of the inner ear, which, to our knowledge, has n

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16

Monus, Taylor M. "Investigation of C4ORF27, C12ORF66 and LRRC34, uncharacterized genes with potential roles in cell proliferation." University of Toledo / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1470410760.

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17

Joffroy, Sandra. "Communication myoblastes/fibroblastes : étude in vivo et in vitro de l'organogénèse et de la croissance musculaire chez un mutant murin muscular dysgenesis." Bordeaux 2, 1999. http://www.theses.fr/1999BOR28661.

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Muscular Dysgenesis (mdg/mdg) est une mutation murine récessive autosomale et létale. Elle est caractérisée par une dysfonction du couplage excitation-contraction conduisant à une incapacité du muscle strié squelettique à se contracter. La mutation affecte le gène codant pour la sous-unité α 1 des récepteurs aux dihydropyridines du canal calcique lent, situé dans le T-Tubule. Selon certaines hypothèses, la sous-unité α 1 serait susceptible de fonctionner comme un détecteur de voltage. Enfin, la mutation est à l’origine des perturbations structurales lors de la maturation des myotubes : les myo

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18

Carvalho, Annelise Barrêto de 1976. "Fatores associados ao encaminhamento de pacientes com suspeita clinica de Sindrome de Turner a um serviço universitario de referencia." [s.n.], 2009. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308145.

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Orientador: Andrea Trevas Maciel-Guerra<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-12T22:31:37Z (GMT). No. of bitstreams: 1 Carvalho_AnneliseBarretode_M.pdf: 1757987 bytes, checksum: 457cb60680228e9be061cf287ce01cce (MD5) Previous issue date: 2009<br>Resumo: A Síndrome de Turner (ST) caracteriza-se pela presença de um cromossomo X e perda parcial ou total do segundo cromossomo sexual. Suas características mais comuns são baixa estatura e disgenesia gonadal. O diagnóstico precoce é fundamental para que as

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Cerqueira, Taíse Lima de Oliveira. "Estudo clínico, genético e molecular de pacientes com Disgenesia Tireoidiana." reponame:Repositório Institucional da FIOCRUZ, 2016. http://www.arca.fiocruz.br/handle/icict/14834.

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Submitted by Ana Maria Fiscina Sampaio (fiscina@bahia.fiocruz.br) on 2016-07-13T11:47:34Z No. of bitstreams: 1 Taíse Lima de Oliveira Cerqueira Estudo... 2016.pdf: 4519247 bytes, checksum: 571b6a53cf6e9f3fb58c96cdf62cacb8 (MD5)<br>Approved for entry into archive by Ana Maria Fiscina Sampaio (fiscina@bahia.fiocruz.br) on 2016-07-13T11:55:05Z (GMT) No. of bitstreams: 1 Taíse Lima de Oliveira Cerqueira Estudo... 2016.pdf: 4519247 bytes, checksum: 571b6a53cf6e9f3fb58c96cdf62cacb8 (MD5)<br>Made available in DSpace on 2016-07-13T11:55:05Z (GMT). No. of bitstreams: 1 Taíse Lima de Oliveira Cerqueira

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Aymard, Christophe. "Rôle exercé par les fibroblastes dans la myogenèse de myotubes génétiquement atteints (souris muscular dysgenesis) et perturbation métabolique des fibroblastes du muscle mutant." Bordeaux 2, 1993. http://www.theses.fr/1993BOR28245.

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21

Carvalho, Annelise Barrêto de 1976. "Avaliação clínica de pacientes com suspeita de Síndrome de Turner diagnosticadas em um serviço universitário de referência." [s.n.], 2014. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308156.

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Orientador: Andréa Trevas Maciel-Guerra<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-24T13:17:10Z (GMT). No. of bitstreams: 1 Carvalho_AnneliseBarretode_D.pdf: 1678960 bytes, checksum: 38e5284e80abdc6135eaf891cd8d4e9a (MD5) Previous issue date: 2014<br>Resumo: A síndrome de Turner (ST) tem como sinais mais frequentes baixa estatura e disgenesia gonadal; são também encontrados dismorfismos, malformações e afecções adquiridas. O fenótipo é muito variável, dificultando o estabelecimento da suspeita clínica e o diag

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22

Santos, Ana Paula dos 1986. "Estudo de microdeleções do cromossomo Y em indivíduos com disgenesia gonadal e linhagem celular 46,XY." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308151.

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Orientadores: Andréa Trevas Maciel Guerra, Maricilda Palandi de Mello<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-23T00:38:47Z (GMT). No. of bitstreams: 1 Santos_AnaPaulados_M.pdf: 2717833 bytes, checksum: 8a3a2ff5cccd42ca60c0bc51ba3b0067 (MD5) Previous issue date: 2013<br>Resumo: As disgenesias gonadais parcial (DGP) e mista (DGM) caracterizam-se por ambiguidade genital e presença de gônada disgenética associada a testículo disgenético ou dois testículos disgenéticos. Na DGP o cariótipo é 46,XY; na DGM,

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23

Wennberg, Richard Arnold. "A novel requirement for the X-chromosome in P-M hybrid dysgenesis and the interaction of the garnet and enhancer of garnet loci in Drosophila melanogaster." Thesis, University of British Columbia, 1989. http://hdl.handle.net/2429/27682.

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The discovery of extreme mutability around the g. locus of Drosophila melanogaster in a certain lab strain, S6-1, led to an investigation of the nature of this phenomenon and any possible relationship it had with the well described P-M hybrid dysgenesis mutator system. Southern gel analysis showed the S6-1 strain to contain P element homology and dysgenic crosses involving this P-strain showed mutability in the germline of the F₁. An unexpected finding was the requirement for the presence of the S6-1 X-chromosome in F₁ dysgenic males in order to produce the germline mutability. In situ hybridi

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24

Beltrão, Cristine Barboza. "Contribuição da dosagem de tireoglobulina e de exames de imagem para o diagnóstico de hipotireoidismo congênito: pesquisa dos genes PAX8 e receptor do TSH na disgenesia tireoidiana." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-06112009-150013/.

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INTRODUÇÃO: O hipotireoidismo congênito (HC) é uma doença, de acometimento neonatal, caracterizada por diminuição nos níveis de hormônios tireoidianos. As causas mais comuns de HC primário permanente são as alterações no desenvolvimento da glândula tireóide (disgenesia) e os defeitos de síntese dos hormônios tireóideos (disormonogênese). A determinação da etiologia do HC tem papel importante na determinação da gravidade da doença, evolução e tratamento. Essa investigação é feita através de exames como ultrassonografia e cintilografia (CINT) da tireóide. Além disso, com o conhecimento do genoma

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25

Waldmann, Rebekka [Verfasser]. "Investigations on the molecular biology of human adenylate kinase 2 deficiency (reticular dysgenesis) and the establishment and characterisation of an adenylate kinase 2-deficient mouse model / Rebekka Waldmann." Ulm : Universität Ulm, 2018. http://d-nb.info/1159957703/34.

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26

Andrade, Juliana Gabriel Ribeiro de 1980. "Estudo retrospectivo sobre crescimento, puberdade espontanea e anomalias associadas em pacientes com disgenesia gonadal parcial 46, XY." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308144.

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Orientador: Andrea Trevas Maciel-Guerra<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas<br>Made available in DSpace on 2018-08-15T12:16:58Z (GMT). No. of bitstreams: 1 Andrade_JulianaGabrielRibeirode_M.pdf: 1561649 bytes, checksum: 09036be185a1beed5a46ce3cdf196d4e (MD5) Previous issue date: 2010<br>Resumo: Introdução: A disgenesia gonadal (DG) parcial XY, caracterizada por disgenesia testicular e genitais internos e externos ambíguos em indivíduos com cariótipo 46,XY, é uma causa rara de distúrbio da diferenciação do sexo, de prognóstico ainda não

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27

Bredlau, Justin P. "Evolving Reproductive Isolation in the Parasitic Wasp Genus Cotesia." VCU Scholars Compass, 2018. https://scholarscompass.vcu.edu/etd/5358.

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Parasitic wasps are highly diverse and play a major role in suppression of herbivorous pest populations, but relatively little is known of the mechanisms driving their diversity. Molecular studies indicate that cryptic species complexes resulting from adaptations to specific hosts or host-foodplants may be common. The gregarious endoparasitoid, Cotesia congregata (Braconidae), is a model system for understanding parasitic wasp biology. It is reported to attack at least 15 species of sphingid caterpillars, most of which are plant family specialists. Molecular studies have demonstrated genetic d

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28

Fabbri-Scallet, Helena 1987. "Análise molecular do gene NR5A1 em pacientes 46,XY com distúrbios da diferenciação do sexo." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/317065.

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Orientador: Marcilda Palandi de Mello<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-22T17:47:27Z (GMT). No. of bitstreams: 1 Fabbri_HelenaCampos_M.pdf: 5693726 bytes, checksum: f3da0b3f4f94d25ac46393e9f831a748 (MD5) Previous issue date: 2013<br>Resumo: O termo Distúrbio da Diferenciação do Sexo (DDS) caracteriza-se pelo desenvolvimento genital ou gonadal incompleto ou desordenado. Os DDS com cariótipo 46,XY são caracterizados por genitália externa ambígua ou feminina, em alguns casos com gônadas disgenéticas, e pre

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29

Gomes, Camila Richieri. "Análise clínica e molecular de pacientes com distúrbios do desenvolvimento gonadal." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-05032010-110358/.

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Introdução: O termo distúrbios do desenvolvimento gonadal (DDG) inclui condições congênitas nas quais o desenvolvimento gonadal é atípico. Estudos feitos em camundongos observaram que alguns genes como o Cbx2 e o Tcf21 interferem na fase inicial do desenvolvimento gonadal, afetando tanto gônadas XX quanto XY. O gene Dhh, por sua vez, codifica o fator de transcrição Dhh, produzido pelas células de Sertoli, que é fundamental para a diferenciação das células de Leydig em gônadas XY. Nos ovários, o gene FOXL2 atua na foliculogênese, sendo fundamental para a formação dos ovários. Objetivos: Analisa

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30

Crozatier, Michèle. "Structure et organisation des elements i impliques dans le systeme i-r de dysgenesie hybride chez drosophila melanogaster." Clermont-Ferrand 2, 1987. http://www.theses.fr/1987CLF21043.

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Cunha, Junior Jose Luiz Rosenberis. "Analises de mutações e de seus efeitos na expressão do gene SRY em casos de disgenesia gonadal XY." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/317136.

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Orientadores: Maricilda Palandi de Mello, Celso Eduardo Benedetti, Fernanda Caroline Soardi<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-15T21:27:39Z (GMT). No. of bitstreams: 1 CunhaJunior_JoseLuizRosenberis_M.pdf: 3002580 bytes, checksum: 1980aba7f72fdfd74e758a924771c055 (MD5) Previous issue date: 2010<br>Resumo: A expressão do gene SRY (Sex Determining Region in chromosome Y) é responsável por desencadear a determinação testicular durante o desenvolvimento embrionário, a partir das gônadas ainda indiferenciadas

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Guedes, Dulce Rondina. "Estudo investigativo clínico, laboratorial, patológico, morfométrico, molecular de 10 pacientes com pseudohermafroditismo masculino disgenético (ADS 46, XY)." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-10032010-105027/.

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O Pseudohermafroditismo masculino disgenético (Anomalia da diferenciação sexual 46,XY ADS 46,XY) é definido como ambigüidade genital num paciente com testículos e/ou cariótipo 46,XY com uma das seguintes características: alteração histológica testicular, ausência ou hipoplasia das células de Leydig em tecido previamente estimulado com gonadotrofina coriônica humana(hCG), falta de resposta de testosterona ao estímulo com hCG sem acúmulo de precursores, ausência de células germinativas, presença de derivados müllerianos indicando inadequada produção do hormônio antiMülleriano (HAM) ou resistênc

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Dussartre, Christian. "Etude du développement musculaire embryonnaire et de la différentiation myogénique in vitro chez un mutant murin : muscular dysgénésis." Bordeaux 2, 1993. http://www.theses.fr/1993BOR28267.

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Pellerin, Guillaume. "Contribution des polymorphismes d'insertions à la stérilité des hybrides chez Paramecium tetraurelia." Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066078/document.

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Comme tous les ciliés, P. tetraurelia réarrange son génome à chaque génération sexuelle pendant le développement de son macronoyau somatique ¿ partir du micronoyau germinal. Les réarrangements incluent l’excision précise de courtes séquences dérivant de transposons et appelés IES (Internal Eliminated Sequences) dont la majorité sont intragéniques. L’excision d’une fraction d’entre elles dépend de petits ARN maternels (appelés scnARN) qui sont produits à partir de tout le génome germinal pendant la méiose. Ce mécanisme pose un problème lors d’une conjugaison entre deux souches présentant des po

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Lavige, Jean-Marc. "Systeme i-r de dysgenesie hybride chez drosophila melanogaster : etude du developpement abortif des embryons de meres sf." Clermont-Ferrand 2, 1987. http://www.theses.fr/1987CLF21080.

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BOUSQUET, ROCHETEAU BRIGITTE. "Les dysgenesies gonadiques pures a caryotype 46,xx." Angers, 1989. http://www.theses.fr/1989ANGE1062.

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37

Singh, Umashankar. "New Functions for Old Genes in the Mouse Placenta." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Universitetsbiblioteket [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6882.

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Pellerin, Guillaume. "Contribution des polymorphismes d'insertions à la stérilité des hybrides chez Paramecium tetraurelia." Electronic Thesis or Diss., Paris 6, 2017. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2017PA066078.pdf.

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Comme tous les ciliés, P. tetraurelia réarrange son génome à chaque génération sexuelle pendant le développement de son macronoyau somatique ¿ partir du micronoyau germinal. Les réarrangements incluent l’excision précise de courtes séquences dérivant de transposons et appelés IES (Internal Eliminated Sequences) dont la majorité sont intragéniques. L’excision d’une fraction d’entre elles dépend de petits ARN maternels (appelés scnARN) qui sont produits à partir de tout le génome germinal pendant la méiose. Ce mécanisme pose un problème lors d’une conjugaison entre deux souches présentant des po

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39

Higuet, Dominique. "Variabilites genetiques induites sur un caractere quantitatif : le poids, par la selection disruptive et la dysgenesie des hybrides, chez drosophila melanogaster." Paris 7, 1988. http://www.theses.fr/1988PA077076.

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40

Orsi, Guillaume. "Organisation et intégrité des chromosomes parentaux à la fécondation chez la drosophile." Phd thesis, Université Claude Bernard - Lyon I, 2011. http://tel.archives-ouvertes.fr/tel-00848499.

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La reproduction sexuée implique une différentiation extrême des gamètes qui s'accompagne de profonds remaniements des chromosomes parentaux. Au moment de la fécondation, ces chromosomes doivent être rendus compétents pour la formation du premier noyau zygotique. Au cours de ma thèse, j'ai étudié l'importance fonctionnelle de plusieurs voies moléculaires paternelles et maternelles participant à cette étape chez la drosophile. Le complexe HIRA est impliqué dans l'assemblage de nucléosomes dans le pronoyau mâle à la fécondation. J'ai décrit le rôle de HIRA et de son partenaire Yemanucléine-α dans

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41

IZAABEL, EL-HASSAN. "Contribution a l'etude du determinisme genetique de la susceptibilite aux elements transposables p dans les populations naturelles de drosophila melanogaster." Paris 6, 1988. http://www.theses.fr/1988PA066306.

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Polymorphisme des cytotypes p, m et intermediaires caracterises par leur capacite a reprimer les anomalies genetiques induites par les elements p de d. M. Etudie en correlation avec des elements p complets et defectifs

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42

Silva, Thatiana Evilen da. "Pesquisa de mutações no gene DMRT1 em pacientes portadores de distúrbios do desenvolvimento sexual (DDS) 46,XY por anormalidades gonadais." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-10102012-102725/.

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Introdução: O gene DMRT1 é um fator muito importante, o qual induz a determinação sexual masculina. Estudos mais recentes têm demonstrado que o Dmrt1 possui um papel significante no desenvolvimento ovariano. Deleções restritas ao gene DMRT1 têm sido raramente identificadas em pacientes com disgenesia gonadal (DG) sem outras características sindrômicas. Objetivo: Pesquisar a presença de haploinsuficiência do gene DMRT1 (deleções e/ou mutações inativadoras) em um grupo grande de pacientes não sindrômicos com distúrbios do desenvolvimento sexual (DDS) por anormalidades gonadais. Polimorfismos do

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Busseau, Isabelle. "Transposition des elements i chez drosophila melanogaster : etude moleculaire de mutations induites par la dysgenesie hybride et analyse des fonctions d'un element i modifie in vitro." Clermont-Ferrand 2, 1988. http://www.theses.fr/1988CLF21136.

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FRANCOIS, MAUREL JACQUELINE. "Le syndrome de swyer : a propos de trois cas." Nice, 1989. http://www.theses.fr/1989NICE6514.

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Santos, Mariza Augusta Gerdulo dos. "Pesquisa de mutações em genes envolvidos na diferenciação e manutenção das células germinativas em pacientes portadores de distúrbio do desenvolvimento gonadal 46,XX." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/5/5166/tde-24082010-172135/.

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Diversos genes expressos durante a diferenciação das células germinativas atuam no desenvolvimento ovariano. A diferenciação das células somáticas ovarianas depende do número de células germinativas pré-meióticas que migram para a fenda gonadal. A expressão espaço-temporal de genes envolvidos na diferenciação dessas células e a posterior sobrevivência dos oócitos meióticos são de interesse no estudo dos distúrbios do desenvolvimento sexual (DDS) 46,XX. Entre os genes envolvidos nesses processos estão o NANOS3, BMP15 e STRA8. O NANOS3, uma molécula de ligação ao RNA que bloqueia a via apoptótic

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46

Clasen, Stephan. "GABA-A-Rezeptoruntereinheiten-Dysregulation in der Umgebung ibotensäureinduzierter kortikaler Dysgenesien." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=975020854.

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Pont, Geneviève. "Adn circulaires extrachromosomiques dans les embryons de drosophila melanogaster : caracterisation d'une classe moleculaire homologue aux genes histones." Clermont-Ferrand 2, 1987. http://www.theses.fr/1987CLF21068.

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Silva, Thatiana Evilen da. "Papel do gene DHX37 na etiologia dos distúrbios do desenvolvimento sexual 46,XY associados a anormalidades do desenvolvimento gonadal." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-14032018-100102/.

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Os distúrbios do desenvolvimento sexual (DDS) 46,XY por anormalidades do desenvolvimento gonadal são doenças genéticas heterogêneas. Os testes genéticos que utilizam o sequenciamento de genes candidatos pelo método de Sanger é efetivo para o diagnóstico etiológico em menos de 40% desses pacientes. O sequenciamento de nova geração é uma ferramenta eficaz no diagnóstico de pacientes com DDSs. No presente estudo, utilizamos o sequenciamento exômico paralelo em larga escala (SEPLE) para identificar variantes alélicas potencialmente causadoras dos DDSs. Pacientes com síndrome de regressão testicula

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BUREAU, FONTA EMMANUELLE CHARLOTTE. "Syndrome de turner (dysgenesie gonadique) et traitement par hormone de croissance biosynthetique ; a propos de 44 observations." Lyon 1, 1994. http://www.theses.fr/1994LYO1M123.

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Bonnivard, Eric. "Dynamiques des éléments transposables P et hobo dans les populations naturelles de Drosophila melanogaster." Paris 6, 1999. http://www.theses.fr/1999PA066637.

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