Relevant bibliographies by topics / Dysgenesis

Contents

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

Academic literature on the topic 'Dysgenesis'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Dysgenesis"

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Tak, Apoorva, Pratibha Singh, Garima Yadav, and Meenakshi Rao. "46XX pure gonadal dysgenesis with dysgerminoma along with leydig cells: a unique presentation." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 6 (2020): 2619. http://dx.doi.org/10.18203/2320-1770.ijrcog20202361.

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Authors report a unique case of 46XX gonadal dysgenesis, with dysgerminoma in one ovary and other streak ovary with hilar nests of leydig cells. It is exceptionally rare to find dysgerminoma in a dysgenetic gonad with no Y chromosome and so is the presence of leydig cells in the contralateral streak ovary in a patient with 46XX pure gonadal dysgenesis.
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Morozov, D. A., N. Yu Raygorodskaya, N. V. Bolotova, E. S. Pimenova, G. N. Maslyakova, and E. N. Tsmokalyuk. "The disturbed gonadal differentiation: dysgenesis and ovotesticular disorder of sex formation." Problems of Endocrinology 61, no. 1 (2015): 31–35. http://dx.doi.org/10.14341/probl201561131-35.

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The objective of the present study was differential diagnostics between ovotestis and gonadal dysgenesis, the choice of the gender and the surgical strategy for the treatment of abnormal sexual glands. Diagnostics of the disturbances of gonadal differentiation (DGD) requires morphological verification. The ovotesticular gonad is characterized by the presence of a mature ovarian tissue and a dysgenetic testicular component. The authors describe the surgical separation of the ovotestis with preservation of the segments represented by the mature ovarian tissue. The presence of immature ovarian el
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Borer, Joseph G., Victor W. Nitti, and Kenneth I. Glassberg. "Mixed Gonadal Dysgenesis and Dysgenetic Male Pseudohermaphroditism." Journal of Urology 153, no. 4 (1995): 1267–73. http://dx.doi.org/10.1016/s0022-5347(01)67584-0.

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Trainavičius, Ignas, Darius Dasevičius, Birutė Burnytė, Robertas Kemežys, and Gilvydas Verkauskas. "Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature." Acta medica Lituanica 29, no. 2 (2022): 5. http://dx.doi.org/10.15388/amed.2022.29.2.5.

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Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder of genital development and a higher risk of germ cell neoplasia, management of these patients is complex and requires multidisciplinary approach.Case: We present a 45,X/46,XY mixed gonadal dysgenesis patient diagnosed with gonadoblastoma in both gonads after bilateral gonadectomy at 1 year of age.Conclusions: Because of high risk for malignant
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Bergeron, Mélanie Beaulieu, Nicole Lemieux, and Pierre Brochu. "Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis." Pediatric and Developmental Pathology 14, no. 6 (2011): 445–59. http://dx.doi.org/10.2350/11-01-0960-oa.1.

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Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has been hypothesized to play a role. At the histologic level, the presence of persistent primitive sex cords containing immature germ cells in dysgenetic gonads (an entity called undifferentiated gonadal tissue, or UGT) was recently described, and these immature germ cells are thought to be at risk of neoplastic transformation. To further investigate both these aspects, we retrospectively studied the gonads f
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Belmont, Judson R., Dennis Heffner, Kenneth M. Grundfast, and Vincent J. Hyams. "Laryngeal Dysgenesis." Annals of Otology, Rhinology & Laryngology 94, no. 6 (1985): 602–6. http://dx.doi.org/10.1177/000348948509400616.

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A case of a previously undescribed anomaly of the larynx is presented and offers insight and support of current concepts of fetal laryngeal development. The patient possessed unilateral absence of true and false vocal cords, laryngeal ventricle, and saccule. Current concepts of embryological development would place the development of this anomaly and most of the patient's other multiple anomalies in the period of the 6th to 9th weeks of fetal life. This report lends substantiation to the stages of laryngeal development by demonstrating an aberration in the normal sequential development. Additi
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Baramki, Theodore A. "Gonadal Dysgenesis." Postgraduate Obstetrics & Gynecology 16, no. 17 (1996): 1. http://dx.doi.org/10.1097/00256406-199616170-00001.

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Schaefer, G. Bradley, R. D. Sheth, and John B. Bodensteiner. "Cerebral Dysgenesis." Neurologic Clinics 12, no. 4 (1994): 773–88. http://dx.doi.org/10.1016/s0733-8619(18)30076-8.

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Becker, L. E. "Synaptic Dysgenesis." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 18, no. 2 (1991): 170–80. http://dx.doi.org/10.1017/s0317167100031644.

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ABSTRACT:Synapse formation is a complex, incompletely understood process that has received only limited investigation in man despite the importance of synaptic dysfunction in common disorders such as epilepsy and mental retardation. This review explores synaptic differentiation, focussing on the morphologic maturation of synapses. Since differentiation depends on many antecedent developmental events, synaptogenesis can be affected by several factors: errors in neuronal proliferation, migration, and differentiation. The challenge to the neurobiologist is to detect and evaluate the minor alterat
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Myers, G. J. "Cerebral Dysgenesis." Archives of Neurology 51, no. 7 (1994): 642. http://dx.doi.org/10.1001/archneur.1994.00540190016004.

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Dissertations / Theses on the topic "Dysgenesis"

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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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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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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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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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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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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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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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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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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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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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Books on the topic "Dysgenesis"

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G, Hillier S., and Workshop on the Development and Function of the Reproductive Organs (9th : 1992 : Peebles, Scotland), eds. Gonadal development and function. Raven Press, 1992.

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Schreuder, Michiel F. Renal tubular dysgenesis. Edited by Adrian Woolf. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199592548.003.0350.

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Renal tubular dysgenesis involves the absence or incomplete differentiation of proximal tubular nephron segments. Due to the lack of a patent nephron, it is characterized by (fetal) anuria and subsequent oligohydramnios, pulmonary hypoplasia, premature birth with severe and refractory arterial hypotension, and fetal or neonatal death. The main cause for renal tubular dysgenesis is a genetic mutation in the renin–angiotensin system, which has shown an autosomal recessive trait. Maternal use of angiotensin-converting enzyme inhibitors or angiotensin II receptor blockers during pregnancy can have
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Cerebral dysgenesis: Embryology and clinical expression. Oxford University Press, 1992.

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Ellerbrock, Bettina. Dysgenesis mesodermalis iridis et cornease nach H. Rieger. 1990.

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Scalzo, Cynthia Marie. Source of high testosterone levels associated with autoimmune ovarian dysgenesis in neonatally thymectomized B6A mice. 1986.

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Lee, Ryan W. Smith-Lemli-Opitz Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0078.

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Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is a multiple congenital anomaly disorder caused by an inborn error of cholesterol synthesis. Studies demonstrated that mutations in the gene for 3b-hydroxysterol-D7 reductase (DHCR7) result in low plasma cholesterol and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum.
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Huntbach, Julie, and Amar Alwitry. Glaucoma. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199237593.003.0007.

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The chapter begins by discussing optic nerve head anatomy and aqueous fluid dynamics, before covering the key clinical skills, namely optic nerve head assessment in glaucoma, tonometry and pachymetry , gonioscopy, and perimetry. It also covers the key areas of clinical knowledge, including ocular hypertension, primary open-angle glaucoma, acute angle closure, normal-tension glaucoma, steroid-induced glaucoma, traumatic glaucoma, inflammatory glaucomas, pseudoexfoliative and pigmentary glaucoma, neovascular glaucoma, malignant glaucoma, iridocorneal endothelial syndrome and iridocorneal dysgene
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Tatham, Andrew, and Peng Tee Khaw. Glaucoma. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199672516.003.0008.

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This chapter explores glaucoma. It starts off with an outline of optic nerve head anatomy and then describes aqueous fluid dynamics and the pathogenesis of glaucoma. It then goes on to discuss the clinical skill areas of optic nerve head assessment in glaucoma, glaucoma imaging devices, tonometry and tachymetry, gonioscopy, and perimetry. The chapter also details ocular hypertension, primary open-angle glaucoma, primary angle closure, and secondary angle closure. In addition, it discusses normal tension glaucoma, steroid-induced glaucoma, traumatic glaucoma, inflammatory glaucomas, pseudoexfol
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Lopez-Arvizu, Carmen, Carmel Bogle, and Harolyn M. E. Belcher. Neurobiology of Fetal Alcohol Spectrum Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0179.

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Prenatal exposure to ethanol can result in a wide range of clinical presentations that are grouped under the term “Fetal Alcohol Spectrum Disorders” (FASD). The direct cellular teratogenic effects of ethanol on fetal neurodevelopment include damage to cell survival, proliferation, and migration mechanisms. Dysregulation of neurotransmission and alteration of genetic transcription have also been implicated in the neurotoxic effects of prenatal ethanol exposure. These deleterious events lead to brain volume reduction, corpus callosum dysgenesis, cerebellar, and other neuroanatomical anomalies th
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Epstein, Charles J. The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models (Developmental and Cell Biology Series). Cambridge University Press, 2007.

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Book chapters on the topic "Dysgenesis"

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Marsh, Courtney A., and Yolanda R. Smith. "Gonadal Dysgenesis." In Practical Pediatric and Adolescent Gynecology. Blackwell Publishing Ltd., 2013. http://dx.doi.org/10.1002/9781118538555.ch52.

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Stabel, Aaron, Kimberly Kroeger-Geoppinger, Jennifer McCullagh, et al. "Dysgenesis (Malformation)." In Encyclopedia of Autism Spectrum Disorders. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4419-1698-3_100487.

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Al-Salem, Ahmed H. "Gonadal Dysgenesis." In Pediatric Gynecology. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-49984-6_23.

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Eltorai, Ibrahim M. "Segmental Spinal Dysgenesis." In Rare Diseases and Syndromes of the Spinal Cord. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-45147-3_24.

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Ali, Mohammad Javed. "Canalicular Wall Dysgenesis." In Atlas of Lacrimal Drainage Disorders. Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-5616-1_27.

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Nistal, Manuel, and Pilar González-Peramato. "Rete Testis Dysgenesis." In Encyclopedia of Pathology. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-28845-1_4929-1.

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Alkhuzaie, Zainab A., Yasser F. Almealawy, and Fatimah Dheyaa Kadhim. "Segmental Spinal Dysgenesis." In Congenital Spine Malformations. Springer Nature Switzerland, 2024. http://dx.doi.org/10.1007/978-3-031-59031-3_14.

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Sreedharan, Anjana, and Samir Kant Acharya. "Partial Gonadal Dysgenesis." In Children with Differences in Sex Development. Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-97-1639-5_24.

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Sen, Amita, and Vishrut Narang. "Mixed Gonadal Dysgenesis." In Children with Differences in Sex Development. Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-97-1639-5_20.

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Ali, Mohammad Javed. "Canalicular Wall Dysgenesis." In Atlas of Lacrimal Drainage Disorders. Springer Nature Singapore, 2023. http://dx.doi.org/10.1007/978-981-99-1401-2_36-1.

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Conference papers on the topic "Dysgenesis"

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Dzvincuk, P., D. Ondrová, R. Pilka, J. Zapletalová, and P. Zaoralová. "EP707 Gonadal dysgenesis: a rare congenital hereditary defect." In ESGO Annual Meeting Abstracts. BMJ Publishing Group Ltd, 2019. http://dx.doi.org/10.1136/ijgc-2019-esgo.761.

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Chia, Shi Yun, and Rashida Farhad Vasanwala. "406 Neonate with mixed gonadal dysgenesis: challenges in sex assignment." In RCPCH Conference Singapore. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/bmjpo-2021-rcpch.225.

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Fu, Antony, Sharon To, Kenneth Kwok, and Wing Hang Luk. "698 Thyroid dysgenesis is not a common aetiology for congenital hypothyroidism." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.149.

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Melša, Matea, Miram Pasini, Nevena Krnić, et al. "220 46,XY disorder of sex development – partial gonadal dysgenesis – case report." In 10th Europaediatrics Congress, Zagreb, Croatia, 7–9 October 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.220.

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Williams, E. A., S. W. Frederick, and A. R. Cross. "Correction of Radial Dysgenesis Deformity Using Hinged External Fixator and Ulnocarpal Arthrodesis." In Abstracts of the 50th Annual Conference of the Veterinary Orthopedic Society. Georg Thieme Verlag KG, 2023. http://dx.doi.org/10.1055/s-0043-1775674.

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Jasim, H., O. El-Haddad, and S. Amarakoon. "3 Flying baby anterior segment OCT in the diagnosis of anterior segment dysgenesis." In Abstracts from BIPOSA Annual Meeting Wednesday 4 October 2023, Royal Society of Medicine, London. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/bmjophth-2023-biposa.3.

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Benetti-Pinto, C., AJ Bedone, L. Magna, and JF Marques-Neto. "AB0172 Turner syndrome and pure gonadal dysgenesis: a strong risk factor for osteopenia and osteoporosis." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.611.

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Roy, P., Y. Eun, and H. Assallum. "Gut-lung Axis: Is Gut Dysgenesis a Risk Factor for Bacterial Pneumonia in Inflammatory Bowel Disease?" In American Thoracic Society 2024 International Conference, May 17-22, 2024 - San Diego, CA. American Thoracic Society, 2024. http://dx.doi.org/10.1164/ajrccm-conference.2024.209.1_meetingabstracts.a4710.

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Bredlau, Justin P. "Asymmetric hybrid dysgenesis in crosses of different host-food plant complex sources of the parasitic wasp,Cotesia congregata." In 2016 International Congress of Entomology. Entomological Society of America, 2016. http://dx.doi.org/10.1603/ice.2016.115311.

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Ciepiela, Kamila. "Navigating Identity Dilemmas in Oral Narratives by Women with Turner Syndrome." In GLOCAL Conference on Mediterranean and European Linguistic Anthropology Linguistic Anthropology 2022. The GLOCAL Unit, SOAS University of London, 2023. http://dx.doi.org/10.47298/comela22.9-2.

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Turner syndrome (TS) is a genetic disorder that affects only females. Its main symptoms are a short stature and gonadal dysgenesis. Such genetically determined physical characteristics impact the positioning of TS women in discourses of femininity, health, and illness, as well as in social relationships. This study aims to uncover and explore the social linguistic identities of women with this condition. The analysis draws on premises of ‘the narrative practice’ framework developed by Michael Bamberg (1997, 2005, 2011, 2012, 2020), who claims that in interaction, narrative is not only used
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