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Dissertations / Theses on the topic 'Neurofibromatosis 1 And 2'

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Published: 2 June 2025

Last updated: 31 July 2025

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1

Ardern-Holmes, Simone. "Neurofibromatosis Type 1 and Type 2 Associated Tumours: Current trends in Diagnosis and Management with a focus on Novel Medical Therapies." Thesis, The University of Sydney, 2017. http://hdl.handle.net/2123/17936.

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Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are distinct single gene disorders, which share a predisposition to formation of benign nervous system tumours due to loss of tumour suppressor function. Since identification of the genes encoding NF1 and NF2 in the early 1990s, significant progress has been made in understanding the biological processes and molecular pathways underlying tumour formation. As a result, identifying safe and effective medical approaches to treating NF1 and NF2-associated tumours has become a focus of clinical research and patient care in recent ye

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2

Mantripragada, Kiran K. "Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5743.

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3

Shilyansky, Carrie. "Increased inhibition within frontal corticostriatal networks underlies working memory impairments in a mouse model of neurofibromatosis type 1." Diss., Restricted to subscribing institutions, 2009. http://proquest.umi.com/pqdweb?did=1905652701&sid=1&Fmt=2&clientId=48051&RQT=309&VName=PQD.

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4

Brault, Estelle. "Etude structurale et fonctionnelle de la schwannomine, produit du gene suppresseur de tumeur impliquee dans la neurofibromatose de type 2." Paris 5, 2001. http://www.theses.fr/2001PA05N081.

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5

Roehl, Angelika [Verfasser]. "Analysen zum Entstehungsmechanismus von Typ-2 NF1 Deletionen bei Patienten mit Neurofibromatose Typ 1 / Angelika Roehl." Ulm : Universität Ulm. Medizinische Fakultät, 2012. http://d-nb.info/1027762263/34.

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6

Fagelson, Marc A. "Tinnitus in Neurofibromatosis 2." Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etsu-works/1649.

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7

Ferner, Rosalie Elaine. "Intellect in neurofibromatosis 1." Thesis, University of Newcastle Upon Tyne, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.283079.

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8

Goucha, Tomás Barato. "Genetic Diagnosis of Neurofibromatosis Type 2." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/53388.

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9

Antinheimo, Juha-Pekka. "Meningiomas and schwannomas in neurofibromatosis 2." Helsinki : University of Helsinki, 1999. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/antinheimo/.

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10

Goucha, Tomás Barato. "Genetic Diagnosis of Neurofibromatosis Type 2." Dissertação, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/53388.

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11

Dombrowski, Anna [Verfasser]. "Untersuchung zur Expression des zellulären Retinsäure-bindenden Proteins 2 (CRABP2) und zur Wirkung von all-trans-Retinsäure (ATRA) in Neurofibromatose Typ 1-assoziierten Nervenscheidentumoren / Anna Dombrowski." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2016. http://d-nb.info/1113592680/34.

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12

Jett, Kimberly Ann. "Vascular function in Neurofibromatosis 1." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/52244.

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Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with an estimated prevalence of 1/3000. NF1 is characterized by multiple café-au-lait spots, iris hamartomas, and multiple nerve sheath tumors. Patients may also present with heart disease, cerebrovascular disease, ischemia, or aneurysm. Though well documented, vascular disease in NF1 patients remains poorly understood. Previous in vitro studies suggest that endothelial and vascular smooth muscle function is altered in Nf1+/- mice; however, it is unknown how these alterations affect vascular function in vivo. Haploinsufficiency

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13

Sellmer, Laura. "Intracranial manifestations in neurofibromatosis 1." Thesis, University of British Columbia, 2017. http://hdl.handle.net/2429/61263.

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Introduction: Gliomas in the brain and the optic pathway affect up to 20% of all children with neurofibromatosis 1 (NF1); however, their frequency and natural history in adults is poorly described. Our objectives were to characterize the frequency and natural history of gliomas seen in NF1 patients by serial head magnetic resonance imaging (MRI) and to investigate associations between combined annotation-dependent depletion (CADD) scores and the presence of MRI features of NF1. Methods: 1775 head and whole-body MRI scans of 562 unselected NF1 patients were collected at the University Hospital

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14

Claudio, Jaime O. "Characterization of the neurofibromatosis type 2 gene." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape16/PQDD_0028/NQ29912.pdf.

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15

Claudio, Jaime O. "Characterization of the neurofibromatosis type 2 gene." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=42005.

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Neurofibromatosis type 2 (NF2) is a dominantly inherited genetic disorder predisposing to the development of nervous system tumors such as bilateral vestibular schwannomas, cranial and spinal meningiomas, nerve root schwannomas and ependymomas. The majority of NF2 patients develop juvenile lens opacities often presenting prior to the development of tumors usually in early teens. The NF2 gene had been identified by positional cloning. It encodes a recessive tumor suppressor protein mutated in both sporadic and familial schwannomas and meningiomas. We have isolated the mouse homologue of the NF2

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16

Petrilli, Guinart Alejandra. "Target validation for Neurofibromatosis Type 2 therapeutics." Doctoral diss., University of Central Florida, 2013. http://digital.library.ucf.edu/cdm/ref/collection/ETD/id/6339.

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Neurofibromatosis type 2 (NF2) is a benign tumor disease of the nervous system. Development of bilateral vestibular schwannomas is characteristic of NF2; however patients frequently present schwannomas on other nerves, as well as meningiomas and ependymomas. Currently, there are no drug therapies for NF2. There is an urgent need for development of NF2 therapeutics and this dissertation presents two independent potential therapeutic targets. The disease is caused by mutations in the NF2 gene that encodes a tumor suppressor called merlin. Loss of merlin function is associated with increased acti

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17

Tucker, Tracy. "Pathogenesis of neurofibromatosis 1 associated neurofibromas." Thesis, University of British Columbia, 2006. http://hdl.handle.net/2429/31176.

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Neurofibromatosis 1 (NF1) is an autosomal dominant disease. Neurofibromas, benign tumours that develop from peripheral nerves, are a hallmark feature of NF1. Malignant peripheral nerve sheath tumours (MPNSTs) are one of the leading causes of death in people with NF1. Clinical evidence suggests that most MPNSTs develop from pre-existing plexiform neurofibromas. Most studies treat all NF1-associated neurofibromas as a single entity, ignoring important differences between pathological details, clinical presentation and natural history. I analysed clinical information on 476 probands with NF1 from

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18

Majounie, Elisa. "Molecular dissection of neurofibromatosis type 1 tumorigenesis." Thesis, Cardiff University, 2009. http://orca.cf.ac.uk/54088/.

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The present study investigated the possible involvement of nine candidate genes in NF1 tumours by assessing loss of heterozygosity, promoter hypermethylation, and expression in NF1-related tumours. The CDKN2A/p16INK4a , RB1, TP53</italic> and MGMT genes have previously been found to be altered in NF1 tumours, and this was confirmed in this study. However, new candidate genes were also found to be involved in NF1 MPNSTs and rare malignancies (RARB, MLH1 and RASSF1A).

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19

Baralle, Diana. "Molecular pathology of neurofibromatosis type 1 (NF1)." Thesis, University College London (University of London), 2005. http://discovery.ucl.ac.uk/1444398/.

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Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. Mutation detection in NF1 has been a major challenge due to the large size of the gene and lack of mutational hotspots. This study reports mutation screening of 91 subjects fulfilling NIH NF1 diagnostic criteria in which a mutation detection rate of 89% was achieved using automated comparative sequence analysis (ACSA) and many novel mutations are reported. This detection rate makes this single technique appropriate for routine clinical practice. The data confirms that mutations a

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20

Consoli, Claudia. "Molecular genetics of neurofibromatosis type 1 (NF1)." Thesis, Cardiff University, 2006. http://orca.cf.ac.uk/54101/.

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21

Barke, J. "Young people's experiences of neurofibromatosis type 1." Thesis, University of the West of England, Bristol, 2014. http://eprints.uwe.ac.uk/24974/.

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Neurofibromatosis type 1 (NF1) is a genetic condition which can result in varying degrees of visible difference (disfigurement). There is currently very little research into the psychosocial impact of NF1, particularly during adolescence, a time when health behaviours are consolidated and appearance concerns become more salient. While clinical reviews, research and case studies have suggested that appearance is likely to play an important role in the lives of people with NF1, how young people manage appearance concerns and the possibility of a changing appearance on a day-to-day basis has not

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22

Lamvik, Kate K. "Central Nervous System Associations in Neurofibromatosis Type 1." Cincinnati, Ohio : University of Cincinnati, 2007. http://rave.ohiolink.edu/etdc/view.cgi?acc_num=ucin1179426618.

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Thesis (M.S.)--University of Cincinnati, 2007.<br>Advisor: Dr. Elizabeth K. Schorry. Title from electronic thesis title page (viewed June 30, 2010). Includes abstract. Keywords: Neurofibromatosis type 1 (NF1); optic pathway glioma (OPG); central nervous system (CNS). Includes bibliographical references.

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23

Azage, Meron Y. B. S. "Fracture Rates in Adults with Neurofibromatosis Type 1." University of Cincinnati / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337352142.

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24

Mason, Susan. "Investigating pathological mutations in the neurofibromatosis type 2 tumour suppressor gene." Thesis, University of Newcastle Upon Tyne, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.245083.

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25

Zhan, Yu. "Mixed Lineage Kinase 3 Signaling in Ovarian Cancer and Neurofibromatosis-2." University of Toledo / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1310127039.

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26

Bhuvanagiri, Madhuri. "Exon Definition in Neurofibromatosis Type 1 Pre mRNA Processing." Thesis, Open University, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.504303.

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27

Cnossen, Marjon Hester. "Neurofibromatosis type 1: a clinical and molecular genetic study." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1997. http://hdl.handle.net/1765/13667.

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28

Trueman, Lisa Ann. "The neurofibromatosis Type 2 tumour suppressor gene : further characterisation and pathological mutations." Thesis, University of Newcastle Upon Tyne, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.246094.

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29

Fang, Li Juan. "Identification and characterization of neurofibromatosis type 1 (NF1) gene mutations." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0029/NQ67105.pdf.

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30

RANGWALA, FATIMA ABDULLA. "RAS SIGNALING IN SCHWANN CELL TUMOR FORMATION: NEUROFIBROMATOSIS TYPE 1." University of Cincinnati / OhioLINK, 2003. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1069774794.

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31

Rangwala, Fatima. "Ras signalling in Schwann cell tumor formation neurofibromatosis type 1 /." Cincinnati, Ohio : University of Cincinnati, 2003. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=ucin1069774794.

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32

Vasiljevski, Emily. "Treatment of Muscle Weakness and Fatigue in Neurofibromatosis Type 1." Thesis, University of Sydney, 2020. https://hdl.handle.net/2123/23911.

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Neurofibromatosis type 1 (NF1), previously termed von Recklinghausen’s disease, is a genetic disorder characterised by the development of tumours on the nerves. NF1 can also affect muscle, with hypotonia, muscle weakness and fatigue able to have a profound impact on paediatric quality of life. This thesis investigates an underlying metabolic myopathy, and the potential of dietary intervention to treat the muscular symptomology in NF1. In Chapter 2, we utilised the Nf1Prx1-/- mouse model to test a range of dietary interventions, including 1) a medium-chain fatty acid (MCFA)/L-carnitine combinat

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33

Lawson, McLean Anna [Verfasser], and Josef [Akademischer Betreuer] Zentner. "Growth dynamics of neurofibromatosis-type-2-associated tumors of the central nervous system." Freiburg : Universität, 2016. http://d-nb.info/1124004459/34.

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34

DRAKE, COURTNEY RUTH. "PERCEPTION OF DISEASE SEVERITY IN ADOLESCENTS DIAGNOSED WITH NEUROFIBROMATOSIS TYPE 1." University of Cincinnati / OhioLINK, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1022594060.

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35

Stueber, Sarah E. "Impact of Plexiform Neurofibromas in Adult Patients with Neurofibromatosis Type 1." University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396532689.

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36

Arnold, Shelley Susannah. "Reading Impairments In Children With Neurofibromatosis Type 1: Profiling and Treatment." Thesis, The University of Sydney, 2018. http://hdl.handle.net/2123/20218.

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Reading difficulties are reported in the majority of children with neurofibromatosis type 1 (NF1) and have significant functional impacts. Primary aims of this thesis were to i) examine the reading profile of children with NF1, from preschool to school-age, and ii) investigate the effectiveness of a reading intervention. Three studies were conducted. Study 1 examined the preliteracy abilities of young children (5-6 years) with NF1 compared to controls. Results indicated that the performance of children with NF1 was significantly poorer than controls in all preliteracy domains. Study 2 investig

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37

Marqui, Alessandra Bernadete Trovó de. "Análise proteômica em neurofibromatose tipo 1 /." São José do Rio Preto : [s.n.], 2005. http://hdl.handle.net/11449/102739.

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Orientador: Eloiza Helena Tajara da Silva<br>Banca: Dorotéia Rossi Silva Souza<br>Banca: Fábio César Gozzo<br>Banca: Victor Evangelista de Faria Ferraz<br>Banca: Elaine Sbroggio de Oliveira Rodini<br>Resumo: A Neurofibromatose Tipo 1 (NF1) é uma doença autossômica dominante causada por mutações no gene NF1, responsável pela síntese da proteína neurofibromina. Muitos estudos publicados sobre NF1 têm focado as alterações desse gene e de seu produto em indivíduos afetados, mas as análises de expressão protéica são escassas. No presente estudo, nós investigamos diferenças quantitativas e qualitati

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38

Neill, Graham William. "Protein interactions mediated by the product of the tumour suppressor gene neurofibromatosis type 2." Thesis, Institute of Cancer Research (University Of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.369248.

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39

Sainio, Markku. "Neurofibromatosis 2 : genetic analysis of mild disease, and biology of the gene product, merlin." Helsinki : University of Helsinki, 2000. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/sainio/.

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40

Bartelt, Britta [Verfasser]. "Splice processes in the neurofibromatosis type 1 (NF 1) gene : relevance and evolution / Britta Bartelt." Ulm : Universität Ulm. Medizinische Fakultät, 2002. http://d-nb.info/1015324614/34.

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41

Vose, Linnea Raeanne. "Novel cognitive impairments identified in a Drosophila model of Neurofibromatosis Type 1." Thesis, New York Medical College, 2013. http://pqdtopen.proquest.com/#viewpdf?dispub=3558249.

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<p> Neurofibromatosis Type 1 (NF1) is a common genetic disorder. Besides physical abnormalities, up to 60% of children with NF1 exhibit cognitive problems including learning defects, attention deficit hyperactivity disorder, and difficulty with visuo-spatial tasks, e.g. judgment of line orientation (JLO). Animal models with mutations in the neurofibromin (NF1) gene also show cognitive deficits. Two NF1-dependent intracellular pathways regulate learning and long term memory (LTM) in flies. The carboxy terminus of the NF1 protein stimulates an adenylyl cyclase (AC) that raises cAMP levels and pr

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42

Thomas, Laura E. "Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1)." Thesis, Cardiff University, 2011. http://orca.cf.ac.uk/54450/.

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Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder caused by constitutional inactivation of the NF1 gene. NF1 is associated with extreme phenotypic variability and results in an increased risk of developing benign and malignant peripheral nerve sheath tumours (MPNSTs). The molecular mechanisms that underlie NF1 tumorigenesis are poorly understood although inactivation of additional loci in conjunction with NF1 mutations is postulated to be involved. A combinative approach encompassing genetic, epigenetic and functional analysis was employed to dissect the molecular mechanisms res

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43

Mian, Amir. "Clinical Predictors and Risk of Optic Pathway Glioma in Neurofibromatosis Type-1." University of Cincinnati / OhioLINK, 2006. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1141071696.

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44

Hinman, Melissa N. "The Function and Regulation of Neurofibromatosis Type 1 Exon 23a Alternative Splicing." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1390500738.

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45

Lorenzo, Jennifer. "Early identification of cognitive deficits in young children with neurofibromatosis type 1." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12886.

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Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder with a birth incidence of approximately 1 in 2700. The most commonly reported neurological complication of NF1 is cognitive dysfunction, which can negatively impact on academic achievement, behavioural function, and overall quality of life. The majority of cognitive-based studies on NF1 have focused on older children and adolescents. Very little is known about the specific developmental and cognitive abilities of younger children with NF1. The general aims of this thesis were to examine the developmental, cognitive, and behavi

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46

Pride, Natalie Ann. "The behavioural phenotype of neurofibromatosis type 1: a cognitive and neuroimaging perspective." Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/12737.

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This thesis provides insight into the behavioural phenotype of NF1 by assimilating data on the cognitive, structural, and functional brain correlates of behavioural dysfunction in NF1, specifically attention deficit hyperactivity disorder (ADHD) and social dysfunction. Collectively, thesis results constitute a relevant finding to understanding the social profile of adults with NF1, providing the first quantitative evidence of dysfunction in pro-social behaviours and higher-level social cognition. Magnetic resonance imaging (MRI) data suggest a neuroanatomical basis for this deficit; grey matte

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47

Hansson, Caisa Marie. "Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6511.

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48

Welti, Stefan. "Biochemical characterization of the Sec14-PH Module from the neurofibromatosis type 1 protein." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:16-opus-89026.

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49

Deo, Nikita. "Evaluating preclinical therapies for the treatment of tibial pseudarthrosis in neurofibromatosis type 1." Thesis, The University of Sydney, 2016. http://hdl.handle.net/2123/16181.

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Tibial pseudarthrosis (PA) is a clinically challenging orthopaedic complication that is often associated with the genetic disorder: neurofibromatosis type 1 (NF1). Inactivating mutations in the NF1 gene can lead to complex clinical presentations as neurofibromin, the NF1 protein product, plays important roles in multiple tissue types. In bone, children can develop generalised skeletal abnormalities such as osteopenia/osteoporosis, low bone mineral density, and short stature due to underlying disturbances in bone homeostasis. Tibial dysplasia is a particularly severe focal defect that can devel

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50

ESPOSITO, SILVIA. "Clinical trial with Imatinib Mesylate for plexiform neurofibromas in Neurofibromatosis type 1 patients." Doctoral thesis, Università degli studi di Pavia, 2017. http://hdl.handle.net/11571/1203300.

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Background: Neurofibromatosis type 1 related-plexiform neurofibromas (PNFs) are invasive and growing tumours, with substantial clinical consequences and with a potential risk of transformation into malignant peripheral nerve sheath tumours (MPNSTs). On the basis of recent studies, a clinical trial to test the hypothesis that inhibition of c-kit signalling pathways by Imatinib Mesylate (IM) results in objective reduction and/or inhibition of the growth of PNF was performed. Furthermore, circulating endothelial cells (CECs) and endothelial progenitor cells (EPCs) were evaluated as target and res

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