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Rozprawy doktorskie na temat „Cornelia de Lange syndrome (CdL)”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Pozojevi´c, Jelena [Verfasser]. "Functional and genetic analyses of coding and non-coding variants causing Cornelia de Lange Syndrome (CdLS) / Jelena Pozojevi´c." Lübeck : Zentrale Hochschulbibliothek Lübeck, 2019. http://d-nb.info/1174774908/34.

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2

Wang, Tzu-Jou. "Molecular genetics of Cornelia de Lange Syndrome." Thesis, University of Newcastle Upon Tyne, 2007. http://hdl.handle.net/10443/259.

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Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by peculiar facial features, growth and mental retardation, and a variety of other abnormalities affecting multiple organ systems. The molecular pathology underlying the disease phenotypes is not known. In the past, 3q26.3 was considered as a candidate region. However, no patient-specific mutations in the giant gene, NAALADL2, truncated by the 3q26.3 breakpoint were found. Thus, in this study, we tried to find the disease gene in loci other than 3q26.3 mainly by FISH mapping in patients with t(5; 13), t(14; 21)

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3

Reid, Donna. "Executive functioning in Cornelia de Lange Syndrome." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1170/.

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Cornelia de Lange Syndrome (CdLS) is a genetic disorder caused by mutations to Chromosomes 5, 10 or X. In addition to mild to profound intellectual disability and the distinctive physical phenotype, emerging evidence has suggested a number of age-related changes in behaviour occurring during adolescence and early adulthood. including an increase in preference for routine and repetitive behaviours. Research into executive functioning and behaviour in other neurodevelopmental disorders, suggests that behaviours that are phenotypic of a syndrome are underpinned by specific executive functioning i

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4

Pritchard, Emily Helen. "Chromatin compaction in Cornelia de Lange syndrome." Thesis, University of Edinburgh, 2011. http://hdl.handle.net/1842/5702.

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Cornelia de Lange Syndrome (CdLS) is a multisystem genetic disorder caused by mutations in the cohesin complex. It is believed that cohesin is able to regulate gene expression with CTCF by holding chromatin in topological complexes, such as active chromatin hubs, and that CdLS is caused by loss of these complexes causing aberrant gene expression. In order to determine if loss of these complexes in CdLS resulted in a general change in the compaction of chromatin, I undertook a series of analyses of the nucleus in CdLS patient lymphoblastoid cell lines (LCLs), compared to wildtype, and later in

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5

Sloneem, Jennifer F. "Self-injurious behaviour in Cornelia de Lange Syndrome." Thesis, University of Birmingham, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399019.

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6

Nelson, Lisa Kim. "Mood and sociability in Cornelia de Lange syndrome." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/1037/.

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Background: Recent literature on the behavioural phenotype of Cornelia de Lange syndrome suggests that the trajectory of a number of behaviours may be atypical in the syndrome, including mood and sociability however there is a lack of quantitative research to support these findings. Methods: Three empirical studies were conducted. The first study employed a questionnaire design to follow up mood, interest and pleasure over a two-year period in individuals with Cornelia de Lange syndrome. The second study involved the development of an informant-based questionnaire to examine the trajectory of

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7

Ireland, Maggie. "Cornelia de Lange syndrome : a clinical and molecular study." Thesis, University of Newcastle Upon Tyne, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.299422.

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8

Eichhorn, Pieter Johan Adam. "Towards the cloning of the Cornelia de Lange syndrome gene." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.327219.

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9

Johnson, Victoria Ruth. "Executive function and decision making in Cornelia De Lange syndrome." Thesis, University of Birmingham, 2015. http://etheses.bham.ac.uk//id/eprint/6436/.

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Executive functions are cognitive processes that are crucial for navigating the unpredictability of everyday life. Across two studies employing different methodologies, components of executive functioning were described in Cornelia de Lange syndrome, and compared to Fragile X (FXS) and Rubinstein-Taybi (RTS) syndromes and typically developing children. Significant differences in executive function impairments were found between CdLS, FXS and RTS, and the syndrome groups showed significant impairments relative to mental age expectations. Relationships between specific executive functions and re

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10

Cochran, Lisa Janette. "Profile of autism spectrum disorder phenomenology in Cornelia de Lange syndrome." Thesis, University of Birmingham, 2018. http://etheses.bham.ac.uk//id/eprint/8630/.

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Background: There is a trend in recent research toward more detailed examination of autism spectrum disorder (ASD) and ASD-like characteristics in genetic syndromes. The most recent research findings support the conclusion that it is not only worthwhile but is essential to study ASD in genetic syndromes in order to aid early identification and promote access to appropriate services. Cornelia de Lange syndrome (CdLS) has been shown to have a heightened level of ASD phenomenology even when degree of intellectual disability (ID) is taken into account, although the specific manifestation of charac

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11

Hoffelt, Martine. "Le syndrome de Cornélia de Lange : à propos d'un cas récent : revue de la littérature médicale." Université Louis Pasteur (Strasbourg) (1971-2008), 1985. http://www.theses.fr/1985STR1M096.

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12

Smith, Melanie Jane. "Towards positional cloning of a Cornelia de Lange syndrome gene at 3q26.3." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311133.

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13

Imamwerdi, Burhan. "Towards the positional cloning of the Cornelia de Lange syndrome gene at chromosome 3q26.3." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313218.

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14

PARODI, CHIARA. "ACTIVATION OF DEFECTIVE WNT PATHWAY IN CORNELIA DE LANGE SYNDROME IN IN VITRO MODELS." Doctoral thesis, Università degli Studi di Milano, 2022. http://hdl.handle.net/2434/890460.

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Background: Cornelia de Lange Syndrome (CdLS) is a rare genetic disease caused by de novo mutations in cohesin genes. CdLS phenotypic features vary from mild to severe and is characterized by an array of congenital malformations, neurodevelopmental delay, and autism-spectrum disorder. Current hypothesis is that CdLS clinical signs arise from deregulation of developmental molecular pathways, and we have previously shown that canonical WNT pathway is perturbed. In this study, our goal was assessing possible ameliorative effects of canonical WNT pathway chemical activation in Lymphoblastoid cell

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15

Umbach, Alessandro. "CRISPR-Cas strategies for the correction of Cornelia de Lange Syndrome and Cystic Fibrosis mutations." Doctoral thesis, Università degli studi di Trento, 2023. https://hdl.handle.net/11572/363868.

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CRISPR-Cas nucleases are revolutionizing the field of life sciences, allowing the editing of any site into the genome. Following the technological development of CRISPR-Cas systems, two main editing strategies can be used to introduce modifications in the DNA: induction of a Cas-dependent DNA double strand break (DSB) or DSB-free approaches, which rely on functional modules, such as a deaminase or a reverse transcriptase, fused to a catalytically impaired nuclease. The advancements of new CRISPR-Cas genome editing tools highly facilitated the generation of more refined disease models and is p

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16

Brown, Cecilia, and Cecilia Brown. "Genetic Requirements for Building a Brain of Sufficent Size: Insights from Mendelian Congenital Microcephaly Disorders." Thesis, The University of Arizona, 2017. http://hdl.handle.net/10150/625705.

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Congenital microcephaly (conMiC) is a manifestation of severely disrupted prenatal brain development, caused by genetic defects, toxins, severe maternal malnutrition, or infection. The Zika virus outbreak and the devastating impact of Zika infection on the fetal brain have focused much attention on the cellular and molecular pathophysiology of conMiC. Mendelian conMiC disorders offer a unique opportunity for understanding gene and protein networks that direct cellular processes essential for prenatal brain development. Using OMIM and literature searches, I analyzed 68 conMiC disorders and thei

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17

Parenti, I. "CORNELIA DE LANGE SYNDROME AND RELATED DISORDERS: NEW INSIGHTS INTO GLOBAL TRANSCRIPTIONAL DISTURBANCES DUE TO MUTATIONS IN CHROMATIN-ASSOCIATED FACTORS." Doctoral thesis, Università degli Studi di Milano, 2016. http://hdl.handle.net/2434/352028.

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Cornelia de Lange syndrome (CdLS) is a rare disorder characterized by an extensive clinical heterogeneity. The main features of the syndrome are characteristic facial dysmorphisms and a variable level of intellectual disability, growth retardation and developmental delay. Though, the number and severity of the clinical signs vary among patients. An extensive genetic heterogeneity partially accounts for the reported clinical variability. Mutations in different cohesin-associated proteins are in fact responsible for the onset of the syndrome. The known CdLS-genes include NIPBL, SMC1A, SMC3, RAD2

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18

GRAZIOLI, PAOLO. "IN VITRO AND IN VIVO MODELLING OF CORNELIA DE LANGE SYNDROME CAUSATIVE MUTATIONS: WNT ACTIVATION AS A POSSIBLE THERAPEUTIC APPROACH." Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/821677.

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La sindrome di Cornelia de Lange (CdLS) è una rara malattia genetica che colpisce ogni distretto del corpo, compreso il sistema nervoso centrale, causando un ritardo variabile del neurosviluppo. Le malformazioni causate da questa sindrome derivano da mutazioni a carico di geni del complesso delle coesine (complesso proteico coinvolto nel controllo della coesione dei cromatidi fratelli) e da un’alterata regolazione di pathway molecolari durante lo sviluppo, tra cui il pathway canonico di WNT, che risulta essere meno attivo. Al fine di osservare un miglioramento del fenotipo, ho indagato i pote

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19

Handley, Louise. "Movement disorders and catatonia-like presentations in rare genetic syndromes." Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/movement-disorders-and-catatonialike-presentations-in-rare-genetic-syndromes(581c9b5a-0681-4a14-8b49-35fecded2f55).html.

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The prevalence of Autism Spectrum Disorder (ASD) and its defining features has been increasingly investigated in genetic syndromes associated with intellectual disability, with syndrome specific profiles reported. The experience of catatonia and other movement disorders in people with ASD has been increasing highlighted within both research and diagnostic guidelines. However, these issues have not typically been investigated alongside other features of ASD within research into genetic syndromes. The first paper in this thesis provides a review of the literature on movement disorders in genetic

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20

Borck, Guntram. "Syndromes de retards mentaux avec microcéphalie : contributions au démembrement génétique et à l'établissement de corrélations génotype-phénotype." Paris 5, 2007. http://www.theses.fr/2007PA05D034.

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La microcéphalie est définie comme un périmètre crânien significativement inférieur à la moyenne pour l'âge et le sexe. Elle est souvent associée à un retard mental (RM) et peut survenir de façon sporadique ou familiale ainsi que de manière isolée ou comme un des signes cliniques dans le cadre de syndromes génétiques. Afin de contribuer au démembrement génétique de ces syndromes et à l'établissement de corrélations génotype-phénotype, nous avons analysé des formes sporadiques ainsi que des formes familiales de microcéphalies et RM liées au chromosome X, autosomiques récessives et autosomiques

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21

Bez, Maria Rosangela. "Comunicação aumentativa e alternativa para sujeitos com transtornos globais do desenvolvimento na promoção da expressão e intencionalidade por meio de ações mediadoras." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2010. http://hdl.handle.net/10183/26303.

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A linguagem e a comunicação são processos fundamentais para o desenvolvimento humano. Mas longe de serem processos inatos ou maturacionais são processos sócio-históricos que se desenvolvem ao longo da vida. Dessa forma, quando as crianças chegam à idade escolar trazem com elas uma linguagem e comunicação oral não como produtos acabados, mas como processos sociais e em desenvolvimento Professores de séries iniciais muitas vezes são surpreendidos quando uma criança não fala, ficando sem ação, pois a expectativa deles é trabalhar apenas com a escrita. Eles pressupõem que oralidade já deveria esta

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22

Silva, Glória De Faria Da. "Síndrome de Cornelia de Lange e implicações orofaciais: revisão narrativa." Master's thesis, 2020. http://hdl.handle.net/10284/8743.

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A síndrome de Cornelia de Lange é uma doença rara, com uma variabilidade fenotípica muito ampla e geneticamente heterogénea que afeta múltiplos órgãos e sistemas, tendo até agora sido identificadas mutações patogénicas em cinco genes: NIPBL, SMC1A, SMC3, RAD21 e HDAC8. O diagnóstico da maioria das crianças é geralmente óbvio ao nascimento. A braquicefalia e sinofris são características presentes em todas as crianças com síndrome de Cornelia de Lange, sendo também frequente a presença de atraso mental. Outras manifestações frequentes são ainda o excesso de pelos faciais e hirsutismo generalizad

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23

Costa, Eurico Leandro Bandeirinha Pinto da. "Further contributions towards the molecular analysis of NIPBL and SMC1A genesin a cohort of patients with Cornelia de Lange Syndrome." Master's thesis, 2012. https://repositorio-aberto.up.pt/handle/10216/65313.

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Costa, Eurico Leandro Bandeirinha Pinto da. "Further contributions towards the molecular analysis of NIPBL and SMC1A genesin a cohort of patients with Cornelia de Lange Syndrome." Dissertação, 2012. https://repositorio-aberto.up.pt/handle/10216/65313.

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25

Liu, Hsuan-Yu, and 劉軒妤. "A Case Study of Music-Combined Parent-Child Interactive Curriculum Promoting Oral Expressive Ability of an Elementary School Child with Cornelia de Lange Syndrome." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/10100092649316280539.

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碩士<br>臺北市立教育大學<br>語言治療碩士學位學程<br>101<br>The research adopted the "Hanen Program", applying its theory and therapeutical strategy to the study case, to discuss oral expressive learning process of an elementary school children with Cornelia de Lange syndrome. Within five months, the researcher adminiatered 40 minutes at a time each week totaling 10 times of music-combined parent-child interactive curricula, plus 8 times of such curricula in the case's home to assist parents in teaching the case. With information collected by teaching, recording, observing, documenting, and interviewing to collect

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