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Dissertations / Theses on the topic 'Syndromic and non-syndromic'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Pretorius, Pamela Reed. "Elucidating a role for BBS3 in syndromic and non-syndromic retinal disease." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/2760.

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Hundreds of individually rare, but collectively common Mendelian disorders result in visual impairment. One of these disorders is a heterogeneous syndromic form of retinal degeneration, Bardet-Biedl Syndrome (BBS). This disease is an autosomal recessive disorder characterized by retinal degeneration, obesity, learning disabilities, congenital anomalies, and an increased incidence of hypertension and diabetes. Typically, individuals with BBS experience vision loss during childhood leading to blindness by the third decade of life. At least fourteen genes (BBS1-BBS14) are reported to individual c

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2

Shaw, Diana Frances. "Genetic analysis of non-syndromic and syndromic cleft lip with or without cleft palate." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq24564.pdf.

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3

Wong, Fung Ki. "Application of genetic analyses in studies of syndromic and non-syndromic cleft lip and palate /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-4035-5/.

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4

Howe, Brian James. "Expanding the dental phenotype of non syndromic orofacial clefting." Thesis, University of Iowa, 2013. https://ir.uiowa.edu/etd/4993.

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5

Pappas, Nicholas Harry Barr. "Expanding the occlusal phenotype of non-syndromic orofacial clefting." Thesis, University of Iowa, 2018. https://ir.uiowa.edu/etd/6243.

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Introduction: Patients with oral clefts can present with variable occlusal anomalies often thought to be a result of surgical intervention, which makes it difficult to characterize the occlusal phenotypic spectrum of orofacial clefting. Little research has been performed on the prevalence of occlusal anomalies and whether the prevalence of these anomalies is elevated in unaffected relatives of individuals with overt oral clefts. To date, this study is the largest international collection of children with non-syndromic clefts, their relatives and controls that aim to characterize the spectrum o

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Koillinen, Hannele. "Molecular genetics of non-syndromic cleft palate and van der Woude syndrome." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/koillinen/.

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7

Bosch, Jason. "Significance of connexion genes in non-syndromic deafness in Africans." Master's thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/3088.

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8

Instrum, Susette M. "Cephalometric comparison of the craniofacial skeletal morphology between Moebius syndrome and non-syndromic controls." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape8/PQDD_0015/MQ46507.pdf.

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9

Hampshire, Daniel James. "The identification and characterisation of a gene causing non-syndromic mental retardation." Thesis, University of Leeds, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.515533.

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10

Lo, Giacco Deborah Grazia. "Genetics of male infertility: molecular study of non-syndromic cryptorchidism and spermatogenic impairment." Doctoral thesis, Universitat Autònoma de Barcelona, 2013. http://hdl.handle.net/10803/129093.

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La presente tesis es una aportación al conocimiento de las bases genéticas de la criptorquidia no sindrómica y de las formas idiopáticas de espermatogénesis anómala. RXFP2 y ESR1 son dos genes candidatos en la etiología de la criptorquidia no sindrómica debido al rol del receptor RXFP2 en el control hormonal del descenso testicular y al posible papel del receptor ESR1 como mediador de los efectos de substancias capaces de interferir con el desarrollo del tracto urogenital masculino. La primera parte de la tesis está enfocada en el estudio del papel de dos variantes de estos genes en la et

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11

Ye, Xin. "Mapping a new locus for non-syndromic strabismus with high-throughput genome analysis." Thesis, University of British Columbia, 2014. http://hdl.handle.net/2429/47088.

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12

Al-Talabani, Shaho Ziyad Jamil. "Subclinical phenotypes and genotypes in parents of children with non-syndromic cleft of lip and/or palate." Thesis, University of Dundee, 2016. https://discovery.dundee.ac.uk/en/studentTheses/04d9955c-a28f-4e5e-b820-224a2fb3d166.

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Introduction: There is now substantial evidence that unaffected parents of NSOFC individuals have been shown to manifest distinctive dento-craniofacial phenotypes/cleft microforms compared to unaffected controls. Identification of the cleft microforms in the sub-phenotypes of clefting will improve the recurrence risk estimation and provide more informative and genetically homogenous groups for gene mapping. Aim: To assess facial morphology, the prevalence of upper lip sub-epithelial orbicularis oris (MOO) defects and lower lip whorls, and to determine tooth size and arch width dimensions in un

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13

Moreira, Danielle Tavares Oliveira Campos [UNESP]. "Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista." Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/87825.

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Made available in DSpace on 2014-06-11T19:23:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-12-20Bitstream added on 2014-06-13T19:08:46Z : No. of bitstreams: 1 moreira_dtoc_me_botfm.pdf: 857123 bytes, checksum: 211a3514002e4229b7f57e353a2ac0f0 (MD5)<br>A deficiência auditiva é o déficit sensorial mais comum e tem dentre as suas diferentes etiologias as alterações genéticas. Mutações na conexina 26 são comuns, e uma mutação específica no gene GJB2 é a 35delG, a mais encontrada na deficiência auditiva hereditária não sindrômica. Investigar a ocorrência da mutação 35delG, em paciente

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Manyisa, Noluthando. "Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry." Master's thesis, University of Cape Town, 2018. http://hdl.handle.net/11427/29272.

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Introduction: Hearing impairment occurs when a child has hearing loss greater than 30dB in their better hearing ear and an adult cannot detect sound lower than 40dB in the better hearing ear. It is a common sensory disorder that affecting approximately 360 million worldwide, with an incidence of 6 in 1000 live births in developing countries such as those in Sub-Saharan Africa. 50 % of hearing impairment, in developed countries, is due to genetic factors, with 70% of genetic hearing impairment being classified as non-syndromic hearing impairment, which occurs when the hearing impairment present

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15

Mas, del Molino Ezequiel. "Is the extracellular ATP a key in X-linked Charcot-Marie-Tooth disease and in inherited non-syndromic deafness?" Doctoral thesis, Universitat de Barcelona, 2011. http://hdl.handle.net/10803/32018.

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El ATP es una molécula ampliamente conocida por su papel en muchas funciones como la homeostasis celular, el mantenimiento de gradientes iónicos, el mantenimiento del pH en gránulos secretores, el almacenamiento energético, regulador de la interacción actina-miosina, etc. Además, el ATP puede actuar como molécula señalizadora a través de los receptores purinérgicos P2. De receptores P2 hay de dos tipos, los P2X, que son ionotrópicos, y los P2Y que son metabotrópicos. Los primeros son una familia de canales iónicos permeables a cationes que se abren cuando se les une el ATP. Los segundos son re

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Ma, Xiaoran, and 馬瀟然. "Comprehensive assessment of (central) auditory processing disorder in school age children with non-syndromic cleft lip and/or palate." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/208610.

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Among complications associated with non-syndromic cleft lip and/or palate (NSCL/P) in school age children, conductive hearing loss has been thoroughly investigated because the symptoms are noticeable and the treatment is often easy to access. Research on central auditory processing disorder [(C)APD] has been rarely explored in this clinical population. However, children with NSCL/P have been reported to have delayed speech and language development, as well as poor academic performance in general compared to craniofacially normal peers, despite their peripheral hearing problems typically resolv

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Howe, Laurence. "Exploring the aetiology and phenotypic consequences of non-syndromic cleft lip/palate using polygenic risk scoring and Mendelian randomization." Thesis, University of Bristol, 2018. http://hdl.handle.net/1983/68dc654c-08b4-41e3-83e7-1b7d6012e82b.

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Non-syndromic cleft lip/palate (nsCL/P) is a congenital birth defect characterised by cleft(s) of the upper lip with or without a cleft of the palate. The aetiology of nsCL/P is complex with both genetic and environmental risk factors. In this thesis, I applied Mendelian randomization (MR) and polygenic risk scoring (PRS) to explore the aetiology of nsCL/P and possible consequences of the phenotype. In Chapter 3, strong evidence was found for nsCL/P having a highly polygenic architecture with a substantial SNP heritability suggesting that PRS are likely to be effective genetic proxies for nsCL

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18

Whitehead, Caragh (Caragh Bryony). "Molecular analysis of GJB2 (connexin 26) and GJB6 (connexin 30) gene mutations in non-syndromic hereditary deafness in South Africa." Thesis, Stellenbosch : Stellenbosch University, 2004. http://hdl.handle.net/10019.1/50028.

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Thesis (MSc)--University of Stellenbosch, 2004.<br>ENGLISH ABSTRACT: The most common inherited sensory disorder that affects I in 1 000 children is severe hearing loss. In developed countries, about a third of cases have a genetic origin, 80% of which are autosomal recessive forms (DFNB). Before 1993 few genes causing hearing loss had been identified, but since then a large number of genes related to this problem have been identified. Studies indicate that the DFNBI locus, located at position 13q11-12, contributes to 20% of all childhood deafness and may have a carrier rate as high as 2

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Ropers, Fabienne [Verfasser]. "Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability : the WASH complex member SWIP / Fabienne Ropers." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2012. http://d-nb.info/1028496133/34.

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20

Bouazzi, Habib. "Contribution à l'identification de nouveaux gènes impliqués dans la Déficience intellectuelle liée au Sexe(X-LID) par séquençage à haut débit de l’exome du chromosome X avec la technologie SOLiD." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB009/document.

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La Déficience Intellectuelle liée au chromosome X (X-LID), anciennement appelée RMLX (retard mental lié au chromosome X) est une pathologie fréquente (3 % de la population) et handicapante. Cette déficience se manifeste par la réduction de la capacité à comprendre les informations nouvelles ou complexes, des difficultés d’acquisition de nouvelles compétences et l’échec dans la gestion de sa vie en toute autonomie ; celle-ci est souvent accompagnée par un dysmorphisme corporel. Cette pathologie s’installe dès l’enfance (avant l'âge de 18 ans) et a des répercussions sur le développement de l’ind

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Lebeko, Kamogelo. "Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing." Doctoral thesis, Faculty of Health Sciences, 2019. http://hdl.handle.net/11427/30376.

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Hearing Loss (HL) is one of the highest contributors to disability worldwide. The highest incidence of the disease is seen in developing countries, such as those in subSaharan Africa (SSA). Patients affected with disabling HL are reported to be more than 466 million worldwide. The causes of HL can either be environmental or genetic with each contributing about 50% towards all cases, in many settings. In developing countries, the environment might contribute more due to poor health services and infrastructure available to the population. In the absence of environmental causes, there is a geneti

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22

Souslova, Tatiana. "Transcriptional Regulatory Mechanisms of Freud-1, a Novel Mental Retardation Gene." Thèse, Université d'Ottawa / University of Ottawa, 2011. http://hdl.handle.net/10393/20044.

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The mechanisms that govern the repression of 5-HT1A receptor gene expression mediated by a novel mental retardation gene, Freud-1, were examined in HEK293 and SKNSH cells. This study provides a possible mechanism of 5-HT1A receptor gene regulation by Freud-1, which, to mediate its action, recruits Swi/Snf and Sin3A/histone deacetylase (HDAC) complexes in non-neuronal HEK293 cells and Swi/Snf only in neuronal, 5-HT1A receptor-expressing SKNSH cells. Thus, Freud-1 has a dual mechanism of repression depending on cell type: HDAC dependent in HEK293 cells and HDAC independent in SKNSH cells. In add

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Moreira, Danielle Tavares Oliveira Campos. "Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista /." Botucatu : [s.n.], 2011. http://hdl.handle.net/11449/87825.

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Orientador: Jair Cortez Montovani<br>Banca: Victor Nakajima<br>Banca: Luciana Paula Maximo<br>Resumo: A deficiência auditiva é o déficit sensorial mais comum e tem dentre as suas diferentes etiologias as alterações genéticas. Mutações na conexina 26 são comuns, e uma mutação específica no gene GJB2 é a 35delG, a mais encontrada na deficiência auditiva hereditária não sindrômica. Investigar a ocorrência da mutação 35delG, em pacientes com deficiência auditiva sensorioneural não sindrômica (DASNNS) e de seus parentes em primeiro grau com o mesmo tipo de disacusia assim como naqueles com audição

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Giffen, Alicia Marion. "Exploring the educational experiences of children and young people with non-syndromic cleft lip and or palate in the west of Scotland." Thesis, University of Glasgow, 2017. http://theses.gla.ac.uk/8581/.

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Historically, society has developed and presented the concept of ‘disability’ in negative terms. This in turn led to the identification of individuals/groups with some medical conditions as ‘different’ from the general population. However, this theory has more recently been challenged by the narrative of inclusion which has contributed to questioning the term ‘difference’ and has replaced it with ‘diversity’. Young people with cleft have previously been identified in society by their ‘difference’ due to speech and appearance issues. Existing literature, largely from medical professionals, sugg

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Patel, Sonali Subhashchandra. "Non-Syndromic atrioventricular septal defects: a refined definition, associated risk factors, and prognostic factors for left atrioventricular valve replacement following primary repair." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/871.

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Congenital heart defects (CHDs) constitute a major proportion of clinically significant birth defects and are an important component of pediatric cardiovascular disease. Atrioventricular septal defects (AVSDs) include a range of anomalies characterized by atrial, ventricular, and atrioventricular (AV) valve defects. AVSDs commonly occur in the presence of a syndrome, most frequently Down syndrome; they also occur in isolation and are referred to as non-syndromic AVSDs (NSAVSDs). These studies were performed to evaluate for presence of an intermediate phenotype in parents and siblings of a chil

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Supinger, Rachel Christine. "Process Review of GJB6 Reflex Testing in Individuals with 0 or 1 GJB2 Pathogenic Variants and Non-Syndromic Hearing Loss." The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492470064058105.

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Motazacker, Mohammad Mahdi [Verfasser]. "Identification of novel genetic loci for non-syndromic autosomal recessive mental retardation and molecular genetic characterization of a causative GRIK2 mutation / Mohammad Mahdi Motazacker." Berlin : Freie Universität Berlin, 2008. http://d-nb.info/102325929X/34.

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Meira, Joanna Goes Castro. "Estudo clínico e molecular em pacientes com fissuras orais para avaliação do efeito fenotípico de variantes do IRF6 e estimativa da contribuição genética nas fissuras palatinas." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-11072014-093423/.

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As fissuras orais são as malformações craniofaciais mais freqüentes ao nascimento e apresentam incidências variáveis entre as diversas populações. Essas fissuras são subdivididas em dois grupos principais, as fissuras labiais com ou sem fissura de palato (FL±P) e as fissuras palatinas (FP), consideradas entidades distintas do ponto de vista embriológico, epidemiológico e etiológico. Estas malformações podem ser classificadas em sindrômicas ou não sindrômicas (NS) a depender da existência de outras alterações clínicas associadas. Para as FL±PNS e FPNS, o padrão de herança multifat

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Tsai, Chin-Chu, and 蔡錦珠. "Mutation in PDS causes non-syndromic deafness." Thesis, 2003. http://ndltd.ncl.edu.tw/handle/46579946273475964244.

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碩士<br>中山醫學大學<br>醫學研究所<br>91<br>The sensorineural disorder is the most common cause in severe hearing impairment, which affects about 1 in 1000 children and more than 50% of the disorder are thought to be inherited. Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. The hearing loss is associated with temporal bone abnormalities ranging from isolated enlargement of the vestibular aqueduct (EVA) to Mondini dysplasia. The gene for Pendred syndrome (PDS) encodes a chloride- iodide transport protein of 780 amino acids nam

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Chang, Wen-Chou, and 張文州. "Mutations in Cx43 gene cause non-syndromic deafness." Thesis, 2003. http://ndltd.ncl.edu.tw/handle/51640259838975382828.

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碩士<br>中山醫學大學<br>醫學研究所<br>91<br>Hearing loss is one of the most common sensorineural abnormal diseases. The incidence of profound prelingual deafness is approximately one per 1000 at birth and the cause of this disease includes many known genetic and environmental factors. Connexins, a large family of membrane proteins, are components of gap junction channels that regulate a variety of physiologic and developmental processes through the exchange of ions or small molecules. Each gap junction channel is formed with two hemichannels that are composed of six connexin subunits. Mutations in five

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Jiann-Jou, Yang. "Study of the etiology of prelingual non-syndromic sensorineural deafness." 2006. http://www.cetd.com.tw/ec/thesisdetail.aspx?etdun=U0003-2907200611463700.

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32

Shu-Ting and 楊舒婷. "Study of the TMPRSS3 gene of patients with non-syndromic deafness." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/94600412947492721540.

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碩士<br>中山醫學大學<br>醫學研究所<br>95<br>Hearing loss is the most common sensory defect in humans. The cause of this disease is multifactorial and includes both genetic and environmental factors. Non-syndromic autosomal recessive deafness accounts for about 70% cases of congenital hereditary hearing loss. We have analyzed TMPRSS3 from 120 unrelated normal Taiwanese individuals and 190 Taiwanese patients with prelingual deafness. The prevalence of TMPRSS3 mutation appeared to be 7.37%. Two categories of the mutations of TMPRSS3 gene carried by the deaf patients were found. Three were missense mutatio

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Kaufman, Liana. "Identification of Non-syndromic Intellectual Disability Genes and Their Overlap with Autism." Thesis, 2011. http://hdl.handle.net/1807/29568.

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Non-syndromic intellectual disability (NS-ID) is a widespread neurodevelopmental disorder in which the major phenotypic manifestation is low IQ. Given the known genetic overlaps between the two conditions, it was hypothesize that autosomal recessive NS-ID (NS-ARID) genes may also play a role in autism. In this thesis, autism probands with CNVs overlapping NS-ARID genes were screened for additional mutations by sequencing. In addition, TRAPPC9 was identified as a novel cause of NS-ARID in two unrelated consanguineous families. TRAPPC9 (NIBP) is believed to function in the NF-kB pathway and the

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Ching-Chyuan and 蘇清泉. "Study of the KCNQ4 gene of patients with non-syndromic deafness in Taiwan." Thesis, 2007. http://ndltd.ncl.edu.tw/handle/32136279874854737986.

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博士<br>中山醫學大學<br>醫學研究所<br>95<br>Hearing loss, caused by gene mutations and environmental factors, is a common sensory disorder in the human population. In the developed countries, the incidence of congenital hearing loss is estimated at 1 in 1000 births, of which approximately 60% cases are attributed to genetic factors. To date, 59 auditory genes have been identified, some of which are those involved in K+ recycling and maintenance. KCNQ4, a hearing associated gene, is part of the KCNQ family and the translated protein is part of the voltage gated potassium channel. However, in Taiwan, the dat

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Mei, Huei, and 洪惠媚. "Functional study of mutant Cx29, Cx43 and pseudo-Cx43 in prelingual non-syndromic sensorineural deafness." Thesis, 2010. http://ndltd.ncl.edu.tw/handle/69747822843532913051.

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博士<br>中山醫學大學<br>醫學研究所<br>98<br>Hearing loss, caused by gene mutations and environmental factors, is a common sensory disorder in the human population. In the developed countries, the incidence of congenital hearing loss is estimated at 1 in 1000 births, of which approximately 60% cases are attributed to genetic factors. To date, 59 auditory genes have been identified. Connexin (Cx) belongs to a large gene family, and the products of Cx gene family constitute a gap junction channel responsible for regulation of the physiological and developmental process, involving the exchange of ions and smal

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Naslenas, Skaiste. "Pre and post-operative CT based morphometric analysis of patients with non-syndromic unilateral coronal synostosis (UCS)." 2005. http://link.library.utoronto.ca/eir/EIRdetail.cfm?Resources__ID=370205&T=F.

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Ferraz, Ana Isabel Borges. "Clinical relevance of copy number variations detected by array-coh in six patients with unexplained non-syndromic intellectual disability." Master's thesis, 2012. http://hdl.handle.net/10316/36377.

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Trabalho final de mestrado integrado em Medicina, área de Pediatria, apresentado á Faculdade de Medicina da Universidade de Coimbra<br>Intellectual disability (ID) represents a health problem of great relevance for the public health services and for the families and is one of the most common neurodevelopmental disorders, affecting 1 to 3% of children. Epidemiological studies show that genetic mutations contribute in about 15% to the etiology in milder forms. When ID is present with other symptoms or physical features, the identification of the causative effect is not so difficult to educe

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Monteiro, João Luís Salgado Ferreira Larcher. "Agenesias dentárias não-sindrómicas: genética associada." Master's thesis, 2019. http://hdl.handle.net/10284/7690.

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A agenesia dentária, ou hipodontia, é uma anomalia dentária caraterizada pela ausência de uma ou mais peças dentárias. Esta pode ter diversas causas e ocorre predominantemente na dentição permanente. O diagnóstico da agenesia dentária é efetuado por exame clínico e radiológico, enquanto a terapêutica deve ser adaptada a cada paciente. Com o presente trabalho procura-se esclarecer o conceito de agenesia dentária enquanto patologia e etiologia, na sua vertente sindrómica e não-sindrómica. Mais ainda, na vertente não-sindrómica, procura-se conhecer e avaliar os genes envolvidos. De forma a cump

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Lemos, Andréia Regina Boff. "Fatores genéticos e ambientais envolvidos no desenvolvimento das fendas palatinas/lábio leporino em pacientes não sindrómicos." Master's thesis, 2019. http://hdl.handle.net/10284/9104.

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As fendas labiopalatinas são as malformações congénitas mais comuns ao nascimento. Resultam da falha no processo normal de desenvolvimento craniofacial, que requer a coordenação de uma série complexa de eventos. Do ponto de vista embriológico, a fenda labialpalatina é consequência da falha do primeiro arco branquial superior em completar a fusão com o processo frontonasal durante a gestação. Pensa-se que estes defeitos congénitos resultam da interação complexa de múltiplos genes e fatores ambientais. Clinicamente, as fendas orofaciais são classificadas como sindrómicas e não-sindrómicas. Na fo

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Berryer, Martin H. "Bases moléculaires et cellulaires d’un trouble neurodéveloppemental causé par l’haploinsuffisance de SYNGAP1." Thèse, 2015. http://hdl.handle.net/1866/13907.

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Kabahuma, Rosemary I. "Genetic aspects of hearing loss in the Limpopo Province of South Africa." Thesis, 2010. http://hdl.handle.net/10539/8566.

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The aetiological diagnosis of recessive non-syndromic hearing loss poses a challenge owing to marked heterogeneity and the lack of identifying clinical features. The finding that up to 50% of recessive non-syndromal genetic hearing loss among Caucasians was due to mutations in GJB2, the gene encoding Connexin 26 (Cx26) was a breakthrough, whose value as a diagnostic tool has been limited by the significant variation in the prevalence of deafness genes and loci among population groups. The significant association of the GJB6-D13S1830 deletion among individuals with one mutant GJB2 allele

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