Relevant bibliographies by topics / Cri-du-chat syndrome

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

Academic literature on the topic 'Cri-du-chat syndrome'

Author: Grafiati
Published: 25 July 2021
Last updated: 29 July 2025

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Journal articles on the topic "Cri-du-chat syndrome"

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Rini, Eka Agustia, and R. Trin Suciati. "Cri-du-chat syndrome." Paediatrica Indonesiana 47, no. 3 (2007): 136. http://dx.doi.org/10.14238/pi47.3.2007.136-8.

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Cri-du-chat syndrome (CDCS) is a rare chromosomal disorder, refers to a unique combination of physical and mental characteristics associated with a loss of genetic material on the distal short arm of the fifth chromosome.1 The incidence of CDCS is between 1:25,000 to 1:50,000 births. The prevalence among individuals with mental retardation is about 1.5 in 1000.2 A significant female predominance exists in affected newborns, with a male-to-female ratio of 0.72.2Subtle dysmorphism with neonatal complications and a high-pitched cry typically initiate diagnostic evaluation by cytogenetic studies.
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Cuming, Lyndsay, Donna Diamond, Rouin Amirfeyz, and Martin Gargan. "Cri du Chat syndrome." Orthopaedics and Trauma 24, no. 2 (2010): 164–66. http://dx.doi.org/10.1016/j.mporth.2009.11.002.

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Gordon, R. R. "The Cri du Chat Syndrome." Developmental Medicine & Child Neurology 7, no. 4 (2008): 423–25. http://dx.doi.org/10.1111/j.1469-8749.1965.tb08233.x.

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MILUNSKY, A., and R. G. CHITHAM. "THE CRI DU CHAT SYNDROME*." Journal of Intellectual Disability Research 10, no. 2 (2008): 153–57. http://dx.doi.org/10.1111/j.1365-2788.1966.tb00182.x.

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Bella, H., A. Ourrai, A. Radi, A. Hassani, A. Agadr, and R. Abilkassem. "Cri Du Chat Syndrome: A Case Study." SAS Journal of Medicine 10, no. 02 (2024): 140–43. http://dx.doi.org/10.36347/sasjm.2024.v10i02.012.

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Cri du Chat syndrome (CdCS) is a chromosomal abnormality resulting from a deletion of variable size at the end of the short arm of chromosome 5 (5p), including a critical region located at p15.2. It is one of the most common chromosomal deletions, with an incidence in the general population of between 1:20,000 and 1:50,000. Clinical features include an acute monochromatic cry, microcephaly, characteristic craniofacial dysmorphia progressing with age and significant mental and psychomotor retardation. The size of the deletion varies, and treatment depends on the various symptoms. Parental chrom
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Hong, Yu Chan, Eom Ji Choi, Yo Han Ho, Oh Kyung Lee, and Young Suk Kim. "Cri-du-chat Syndrome with Dysphagia." Perinatology 29, no. 1 (2018): 48. http://dx.doi.org/10.14734/pn.2018.29.1.48.

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Shiono, Hiroshi, Jun-Ichi Kadowaki, and Hisashi Kazama. "Dermatoglyphics in Cri du Chat syndrome." Clinical Genetics 11, no. 2 (2008): 214–18. http://dx.doi.org/10.1111/j.1399-0004.1977.tb01302.x.

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XIE, YINGJUN, YI ZHOU, JIANZHU WU, YUNXIA SUN, YONGZHEN CHEN, and BAOJIANG CHEN. "When Cri du chat syndrome meets Edwards syndrome." Molecular Medicine Reports 11, no. 3 (2014): 1933–38. http://dx.doi.org/10.3892/mmr.2014.2920.

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Gordon, R. R., and Patricia Cooke. "Facial Appearance in Cri du Chat Syndrome." Developmental Medicine & Child Neurology 10, no. 1 (2008): 69–76. http://dx.doi.org/10.1111/j.1469-8749.1968.tb02840.x.

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Collins, M. S. R. "Growth study of cri du chat syndrome." Archives of Disease in Childhood 85, no. 4 (2001): 337–38. http://dx.doi.org/10.1136/adc.85.4.337.

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Dissertations / Theses on the topic "Cri-du-chat syndrome"

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Lindvall, Charlotta. "Molecular studies of acute myeloid leukemia and the telomerase reverse transcriptase gene /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-291-4.

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Claro, Anthony. "Atypical behaviours in developmental disorders: the association between fatique and autistic symptoms in children with Cri du Chat syndrome." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=95071.

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The goal of the current study is to examine whether fatigue level of children diagnosed with Cri du Chat syndrome or moderate to severe learning disabilities, is associated with their expression of autistic symptoms. Sixty-nine children with Cri du Chat syndrome and 47 children with moderate to severe learning disabilities were assessed using the ISQ-A for fatigue level and the CARS for autism level rating. In line with our hypothesis, results of hierarchical multiple regression analyses indicated that children who exhibited high levels of fatigue were more likely than children who exhibited l
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SIDDIG, KHALLAFALLA ALI KHALLAFALLA. "Advances in the Application of Biotechnological Approaches in Experimental Medicine: Generation and Characterization of iMSC From Cri-du Chat Syndrome Patient and Isolation of Urinary EVs by Different Procedures." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558456.

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L’utilizzo delle cellule iPSC–paziente specifiche costituiscono uno degli strumenti -di modello malattia- utilizzati per studiare i meccanismi biologici e patologici alla base di una specifica malattia. L'obiettivo principale di questa tesi di dottorato è stato quello di generare iPSC da cellule mononucleate del sangue periferico (PBMC) ottenute da pazienti con Sindrome di Cri-du-Chat (CdCS), poi differenziate in cellule staminali mesenchimali indotte (iMSC). CdCS è un malattia genetica causata da una delezione totale o parziale nel braccio corto del cromosoma 5, caratterizzata da un grido
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SIDDIG, KHALLAFALLA ALI KHALLAFALLA. "Advances in the Application of Biotechnological Approaches in Experimental Medicine: Generation and Characterization of iMSC From Cri-du Chat Syndrome Patient and Isolation of Urinary EVs by Different Procedures." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558457.

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L’utilizzo delle cellule iPSC–paziente specifiche costituiscono uno degli strumenti -di modello malattia- utilizzati per studiare i meccanismi biologici e patologici alla base di una specifica malattia. L'obiettivo principale di questa tesi di dottorato è stato quello di generare iPSC da cellule mononucleate del sangue periferico (PBMC) ottenute da pazienti con Sindrome di Cri-du-Chat (CdCS), poi differenziate in cellule staminali mesenchimali indotte (iMSC). CdCS è un malattia genetica causata da una delezione totale o parziale nel braccio corto del cromosoma 5, caratterizzata da un grido
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SIDDIG, KHALLAFALLA ALI KHALLAFALLA. "Advances in the Application of Biotechnological Approaches in Experimental Medicine: Generation and Characterization of iMSC From Cri-du Chat Syndrome Patient and Isolation of Urinary EVs by Different Procedures." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558460.

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L’utilizzo delle cellule iPSC–paziente specifiche costituiscono uno degli strumenti -di modello malattia- utilizzati per studiare i meccanismi biologici e patologici alla base di una specifica malattia. L'obiettivo principale di questa tesi di dottorato è stato quello di generare iPSC da cellule mononucleate del sangue periferico (PBMC) ottenute da pazienti con Sindrome di Cri-du-Chat (CdCS), poi differenziate in cellule staminali mesenchimali indotte (iMSC). CdCS è un malattia genetica causata da una delezione totale o parziale nel braccio corto del cromosoma 5, caratterizzata da un grido
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Tunnicliffe, Penelope Louisa. "Self-injurious and aggressive behaviour in Angelman, Cri du Chat and Cornelia de Lange syndromes." Thesis, University of Birmingham, 2010. http://etheses.bham.ac.uk//id/eprint/768/.

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In a series of studies, the role of operant reinforcement of phenotypic problem behaviours in Angelman, Cri du Chat and Cornelia de Lange syndromes was explored. Firstly, a systematic review of the literature highlighted papers with robust experimental functional analytic designs; providing appropriate methodology for the subsequent studies. The review also showed a trend towards an increase in the number of published papers that linked facets of the behavioural phenotype to challenging behaviour (gene-environment interactions). Next, the phenomenology and correlates of self-injurious and aggr
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Piper, Christine [Verfasser]. "Verlaufsstudie bei 4 häufigen Chromosomenaberrationen : Cri-du-chat-Syndrom, Wolf-Hirschhorn-Syndrom, Trisomie 13, Trisomie 18 / vorgelegt von Christine Piper." 2005. http://d-nb.info/975964933/34.

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Mwale, Emanuel. "Jesus Christ’s humanity in the contexts of the pre-fall and post-fall natures of humanity: a comparative and critical evaluative study of the views of Jack Sequeira, Millard J. Erickson and Norman R. Gulley." Thesis, 2019. http://hdl.handle.net/10500/27660.

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Bibliography: leaves 653-669<br>Before God created human beings, He devised a plan to save them in case they sinned. In this plan, the second Person of the Godhead would become human. Thus, the incarnation of the second Person of the Godhead was solely for the purpose of saving fallen, sinful human beings. There would have been no incarnation if human beings had not sinned. Thus, the nature of the mission that necessitated the incarnation determined what kind of human nature Jesus was to assume. It was sin that necessitated the incarnation – sin as a tendency and sin as an act of disobedience
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Books on the topic "Cri-du-chat syndrome"

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Cornish, Kim. Cri du chat syndrome: Guide lines for parents and professionals. Cri Du Chat Syndrome Support Group, 1998.

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Collins, Margaret Sutherland Ross. Towards targeted nutritional intervention in Cri du Chat syndrome(s) (5p-) Down's syndrome (Trisomy 21) and Autistic Spectrum disorders. The author], 2000.

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Parker, James N., and Philip M. Parker. Cri-du-chat syndrome: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. ICON Health Publications, 2007.

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Book chapters on the topic "Cri-du-chat syndrome"

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Gilbert, Patricia. "Cri—du—chat 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_20.

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Chen, Harold. "Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_60-2.

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Ohr, Phyllis S. "Cri du chat 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/10.1037/0000349-017.

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Ohr, Phyllis S. "Cri-du-chat syndrome." In Health-related disorders in children and adolescents: A guidebook for understanding and educating. American Psychological Association, 1998. http://dx.doi.org/10.1037/10300-027.

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Chen, Harold. "Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_60.

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Peters, Nils, Martin Dichgans, Sankar Surendran, et al. "Cri-du-Chat Syndrome (Chromosome 5 Short Arm Deletion)." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_426.

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Tariverdian, Gholamali. "Karyotyp bei Cri-du-Chat-Syndrom: 46, XX, 5p−." In Bildtafeln für die genetische Beratung. Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-76495-0_27.

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Turleau, C. "Cri-du-Chat Syndrome." In Encyclopedia of Genetics. Elsevier, 2001. http://dx.doi.org/10.1006/rwgn.2001.0290.

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"Cri-Du-Chat Syndrome." In Atlas of Genetic Diagnosis and Counseling. Springer US, 2012. http://dx.doi.org/10.1007/978-1-4614-1037-9_60.

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Didden, R., and L. Curfs. "Cri-du-chat Syndrome." In Brenner's Encyclopedia of Genetics. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-374984-0.00353-3.

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Conference papers on the topic "Cri-du-chat syndrome"

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Schmidt, Andre, Irisa Ono, Yannick Lampo, Megan Leston, and Karen Malone. "The Business Case for Drug Repurposing in Cri du Chat Syndrome Patients." In RExPO25. REPO4EU, 2025. https://doi.org/10.58647/rexpo.25000107.v1.

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Gomez, M., J. Caceres, P. Panqueva, S. M. Restrepo, and M. Naranjo. "Ebstein's Anomaly with Severe Pulmonary Hypertension in a Patient with Cri-Du-Chat Syndrome." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a5365.

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Gomez, M. P., J. Caceres, S. M. Restrepo, O. P. Panqueva, and M. S. Naranjo. "Ebstein's Anomaly with Severe Pulmonary Hypertension in a Patient with Cri-du-chat Syndrome." In American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a1761.

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Almeida, V., SN Chehimi, GFS Carvalho, et al. "DIFFERENCE IN METHYLATION STATUS OF REMAINING ALLELE IN SIBLINGS WITH THE SAME DELETION SIZE IN 5P." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.6429.

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Objective: Cri Du Chat syndrome or 5psyndrome (OMIM #123450) is characterized by a genomic loss in the short arm of chromosome 5 and by variable clinical manifestations, that include high-pitched cry in newborns. The phenotypic variability in this syndrome may not be limited only to variations in gene structure – such as deletions, duplications, inversions, insertions and translocations – as DNA methylation mechanisms, which occurs mainly in the “CpG Islands”, are also possible. Therefore, we studied the methylation status of the remaining allele of region of breakpoint at 5pin siblings, an 11
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