Gotowe bibliografie tematyczne / Cornelia de Lange syndrome (CdL)

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Gotowa bibliografia na temat „Cornelia de Lange syndrome (CdL)”

Autor: Grafiati
Data publikacji: 3 czerwca 2025
Data aktualizacji: 31 lipca 2025

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Artykuły w czasopismach na temat "Cornelia de Lange syndrome (CdL)"

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Nakajima, Atsushi, Akira Ohshima, Haruhisa Fukayama, and Tatsuki Kinoshita. "Perioperative Management of a Patient With Cornelia de Lange Syndrome and Tetralogy of Fallot." Anesthesia Progress 66, no. 3 (2019): 159–61. http://dx.doi.org/10.2344/anpr-66-04-02.

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This is a case report of a 21-year-old male patient with Cornelia de Lange syndrome (CdL) and unrepaired tetralogy of Fallot scheduled for dental treatment under general anesthesia. Anticipated dental care consisted of restorative treatment and extractions. Surgical correction of the patient's congenital cardiac abnormalities had not occurred by the time of dental treatment. As such, the developed anesthetic plan included the following goals: prevention of any anoxic episodes or spell and preparation for difficult airway management due to micrognathia secondary to CdL. To help ensure adequacy
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Dr., Manaswineesahoo Dr. Sunil Kumar Agarwalla Dr. Subhranshu Sekhar Dhal &. Dr. Debasispatro. "CORNELIA DE LANGE SYNDROME(CdLS) WITH TB ABDOMEN :A RARE CASE REPORT." Indian Journal of Medical Research and Pharmaceutical Sciences 4, no. 11 (2017): 31–35. https://doi.org/10.5281/zenodo.1066712.

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Cornelia de Lange syndrome(CdLS) also known as Brachmann de Lange syndrome is  a very rare genetic disorder characterized by growth delays; distinctive facial features; malformations of the hands, feet, arms, and/or legs (limb anomalies); other physical abnormalities; intellectual disability; and/or developmental delay . Gastroesophageal reflux disease (GERD)is present in almost all patients.CdLS is genetically heterogeneous and usually sporadic occuring approximately one per 10,000 births.CdLS is caused by gene mutations affecting proteins involved in sister chromatid cohesion.Here we do
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Luppino, Giovanni, Malgorzata Wasniewska, Giorgia Pepe, et al. "Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature." Genes 16, no. 8 (2025): 859. https://doi.org/10.3390/genes16080859.

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Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange (CdL) syndromes. Case description: A female patient with severe short stature and intellectual disability had been followed since she was 9 years old. Several causes of short stature were ruled out. At the age of 12 years, her height was 114 cm (−5.22 SDS), weight 19 kg
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ALTUN, Demet, and Ali Emre ÇAMCI. "Anesthetic and Airway Management of a Pediatrıc Patient With Cornelia De Lange Syndromy: Letter to the Editor." Turkiye Klinikleri Journal of Anesthesiology Reanimation 14, no. 2 (2016): 66–68. http://dx.doi.org/10.5336/anesthe.2016-51910.

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Tayebi, Naeimeh. "Cornelia de lange syndrome." Indian Journal of Human Genetics 14, no. 1 (2008): 23. http://dx.doi.org/10.4103/0971-6866.42324.

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Crawford, Doreen, and Annette Dearmun. "Cornelia de Lange syndrome." Nursing Children and Young People 28, no. 8 (2016): 19. http://dx.doi.org/10.7748/ncyp.28.8.19.s24.

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Deschamps, Gabrielle N. "Cornelia de Lange Syndrome." Neonatal Network 41, no. 3 (2022): 145–49. http://dx.doi.org/10.1891/nn-2021-0011.

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Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000–100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a “transcriptomopathy” or “cohesinopathy.” The phenotype and presentation vary greatly, though there is a classic phenotype that includes a distinctive craniofacial appearance and growth pattern in addition to limb malformations. Because there are multiple overlapping
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Abdulla, Sam. "Cornelia de Lange syndrome." Learning Disability Practice 21, no. 2 (2018): 19. http://dx.doi.org/10.7748/ldp.21.2.19.s20.

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Hari Kumar, K. V. S., HBabul Reddy, and K. Neelaveni. "Cornelia de Lange syndrome." Indian Journal of Endocrinology and Metabolism 17, no. 4 (2013): 763. http://dx.doi.org/10.4103/2230-8210.113779.

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Boyle, M. I., C. Jespersgaard, K. Brøndum-Nielsen, A. M. Bisgaard, and Z. Tümer. "Cornelia de Lange syndrome." Clinical Genetics 88, no. 1 (2014): 1–12. http://dx.doi.org/10.1111/cge.12499.

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Rozprawy doktorskie na temat "Cornelia de Lange syndrome (CdL)"

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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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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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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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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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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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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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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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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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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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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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Książki na temat "Cornelia de Lange syndrome (CdL)"

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Arron, Kate. The behavioural phenotype of Cornelia de Lange Syndrome. University of Birmingham, 2003.

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Parker, James N., and Philip M. Parker. Cornelia de Lange syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.

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Publications, ICON Health. Cornelia De Lange Syndrome: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References. Icon Health Publications, 2004.

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Części książek na temat "Cornelia de Lange syndrome (CdL)"

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Fitzpatrick, David R., and Antonie D. Kline. "Cornelia de Lange Syndrome." In Management of Genetic Syndromes. John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch15.

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Gilbert, Patricia. "Cornelia de Lange syndrome." In The A-Z Reference Book of Syndromes and Inherited Disorders. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_19.

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Liu, Jinglan, and Gareth Baynam. "Cornelia de Lange Syndrome." In Advances in Experimental Medicine and Biology. Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-6448-9_11.

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Mundlos, Stefan, and Denise Horn. "Cornelia de Lange Syndrome." In Limb Malformations. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-540-95928-1_85.

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Poplawski, Elizabeth. "Cornelia de Lange Syndrome." In Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-18096-0_78.

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DeLucia, Elizabeth A. "Cornelia de Lange Syndrome." In Encyclopedia of Autism Spectrum Disorders. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_102065-1.

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Jimenez, Emily M., and Cynthia A. Riccio. "Cornelia de Lange syndrome." In Health-related disorders in children and adolescents: A guidebook for educators and service providers (2nd ed.). American Psychological Association, 2023. http://dx.doi.org/10.1037/0000349-055.

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Young, Mary M., and Joan Mayfield. "Cornelia de Lange syndrome." In Health-related disorders in children and adolescents: A guidebook for understanding and educating. American Psychological Association, 1998. http://dx.doi.org/10.1037/10300-025.

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DeLucia, Elizabeth A. "Cornelia de Lange Syndrome." In Encyclopedia of Autism Spectrum Disorders. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-319-91280-6_102065.

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Peters, Nils, Martin Dichgans, Sankar Surendran, et al. "Cornelia de Lange Syndrome." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_412.

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Streszczenia konferencji na temat "Cornelia de Lange syndrome (CdL)"

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Kunz, Ana Clara, Naiara Bozza Pegoraro, Júlia de Oliveira Barbosa, et al. "Cornelia de Lange syndrome associated with ASD and epilepsy: a case report." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774576.

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Safi, Faiza, Sahar Trichilli, Manel Hsairi, et al. "P659 Cornelia de Lange syndrome and spontaneously regressive bronchogenic cyst about a unusual case." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.989.

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Fritsch, Lena-Marie, Philipp Deindl, Konrad Reinshagen, et al. "Bilateral diaphragmatic hernia and pulmonary hypoplasia in a late preterm infant with Cornelia de Lange Syndrome." In Abstracts zur 49. Jahrestagung der Gesellschaft fär Neonatologie und Pädiatrische Intensivmedizin (GNPI). Georg Thieme Verlag KG, 2023. http://dx.doi.org/10.1055/s-0043-1769435.

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Colin, Veronica. "#35727 Ultrasound guided popliteal sciatic nerve block in a teen with cornelia de lange syndrome and difficult airway." In ESRA Abstracts, 40th Annual ESRA Congress, 6–9 September 2023. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/rapm-2023-esra.473.

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Kyoseva, Mariya, Gerhard Kluger, Andrea Berger, et al. "Difficult-to-treat Epilepsies in Children with SMC1A Mutations without Facial Abnormalities: An “Atypical Cornelia-de-Lange Syndrome“? – Five More Cases." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698226.

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