PUBBLICAZIONI SCIENTIFICHE SULLA SINDROME DEL CRI DU CHAT
Queste sono alcune delle pubblicazioni a cura dei membri del Comitato Scientifico A.B.C., in ordine temporale. Per ulteriori informazioni è possibile rivolgersi alla sede: abc@criduchat.it
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SCIENTIFIC PUBLICATIONS ON CRI DU CHAT SYNDROME
These are some of the publications edited by members of the A.B.C. Scientific Committee, in chronological order. For further information, please contact the office: abc@criduchat.it
2000-Growth Charts for Cri-Du-Chat Syndrome/ An International Collaborative Study.pdf
2000-The first three mosaic cri du chat syndrome patients with two rearranged cell lines.pdf
2001-Clinical and molecular characterisation of 80 patients with 5p deletion/ genotype-phenotype correlation.pdf
2006-Cri du Chat syndrome.pdf
2012-Sindrome del Cri du Chat/ indagine sulla qualità dell'assistenza.pdf
2014-Anesthesia in Cri du Chat Syndrome/ Information on 51 Italian Patients.pdf
2015-La sindrome del "Cri du chat"/ qualche novità per una "vecchia" sindrome.pdf
2016-Psychomotor Development in Cri du Chat Syndrome/ Comparison in Two Italian Cohorts with Different Rehabilitation Methods.pdf
2017-Neoplasia in Cri du Chat Syndrome from Italian and German Databases.pdf
2018-Skin picking disorder in 97 Italian and Spanish Cri du chat patients.pdf
2019-Children and adults affected by Cri du Chat syndrome/ Care's recommendations.pdf
2019-F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome.pdf
2019-Sviluppo picomotorio, caratteristiche cognitive e comportamentali in pazienti con sindrome di Cri Du Chat.pdf
2019-Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.pdf
2020-Social Economic Costs-Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome.pdf
2020-Structural brain anomalies in Cri du chat syndrome/ MRI finfings in 14 patients and possible genotype-phenotype correlations.pdf
2021-18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome.pdf
2021-Novità sulla sindrome del Cri du Chat/ un modello di studio per una malattia rara.pdf
2022-Pain Insensitivity in Cri du Chat Syndrome.pdf
2023-Voice Analysis in 63 Italian Cri du Chat Patients.pdf
2024-Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome.pdf
2024-Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome/ Clinical, Cytogenetic, and Molecular Analysis.pdf
2025-Establishment and characterization of Cri Du Chat neuronal stem cells/ a novel promising resource to study the syndrome.pdf
2025-From phenotype to phonotype/ a comprehensive description of voice features of Cri du chat syndrome.pdf
01
2000-Growth Charts for Cri-Du-Chat Syndrome: An International Collaborative Study.pdf02
2000-The first three mosaic cri du chat syndrome patients with two rearranged cell lines.pdf03
2001-Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.pdf04
2006-Cri du Chat syndrome.pdf05
2012-Sindrome del Cri du Chat: indagine sulla qualità dell'assistenza.pdf06
2014-Anesthesia in Cri du Chat Syndrome: Information on 51 Italian Patients.pdf07
2015-La sindrome del “Cri du chat”: qualche novità per una “vecchia” sindrome.pdf08
2016-Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods.pdf09
2017-Neoplasia in Cri du Chat Syndrome from Italian and German Databases.pdf10
2018-Skin picking disorder in 97 Italian and Spanish Cri du chat patients.pdf11
2019-Children and adults affected by Cri du Chat syndrome: Care's recommendations.pdf12
2019-F-FDG PET Identifies Altered Brain Metabolism in Patients with Cri du Chat Syndrome.pdf13
2019-Sviluppo psicomotorio, caratteristiche cognitive e comportamentali in pazienti con sindrome di Cri Du Chat.pdf14
2019-Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.pdf15
2020-Social Economic Costs-Health-Related Quality of Life and Disability in Patients with Cri Du Chat Syndrome.pdf16
2020-Structural brain anomalies in Cri du chat syndrome: MRI finfings in 14 patients and possible genotype-phenotype correlations.pdf17
2021-18F-FDG PET brain findings in disease-discordant monozygotic mosaic twins with Cri du Chat (5p-) syndrome.pdf18
2021-Novità sulla sindrome del Cri du Chat: un modello di studio per una malattia rara.pdf19
2022-Pain Insensitivity in Cri du Chat Syndrome.pdf20
2023-Voice Analysis in 63 Italian Cri du Chat Patients.pdf21
2024-Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome.pdf22
2024-Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis.pdf23
2025-Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome.pdf24
2025-From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.pdfPage updated
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