Cornelia de Lange syndrome: from a disease to a broader spectrum
A Selicorni, M Mariani, A Lettieri, V Massa - Genes, 2021 - mdpi.com
Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of
knowledge in the field of rare genetic disorders. Originally described as a unique pattern of …
knowledge in the field of rare genetic disorders. Originally described as a unique pattern of …
Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature
K Gruca-Stryjak, E Doda-Nowak, J Dzierla… - Journal of Clinical …, 2024 - mdpi.com
Cornelia de Lange syndrome (CdLS) is a complex genetic disorder with distinct facial
features, growth limitations, and limb anomalies. Its broad clinical spectrum presents …
features, growth limitations, and limb anomalies. Its broad clinical spectrum presents …
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management
L Avagliano, S Castiglioni, A Lettieri… - Birth Defects …, 2024 - Wiley Online Library
Background Chromatinopathies are a heterogeneous group of genetic disorders caused by
pathogenic variants in genes coding for chromatin state balance proteins. Remarkably …
pathogenic variants in genes coding for chromatin state balance proteins. Remarkably …
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases
S Tehrani Fateh, N Mohammad Zadeh… - BMC Medical …, 2024 - Springer
Abstract Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder
characterized by a range of physical, cognitive, and behavioral abnormalities. This study …
characterized by a range of physical, cognitive, and behavioral abnormalities. This study …
[HTML][HTML] Targeting cancers and metabolic disorders: the prospects of combining HDAC8 inhibitor and activator
MM Yusif - European Journal of Medicinal Chemistry Reports, 2023 - Elsevier
Abstract Histone deacetylase-8 (HDAC8) is a unique member of class I Zn 2+-dependent
metalloenzyme of the classical histone deacetylases owing to its highly structural and kinetic …
metalloenzyme of the classical histone deacetylases owing to its highly structural and kinetic …
Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation
QX Yu, XY Jing, XM Lin, L Zhen, DZ Li - European Journal of Obstetrics & …, 2023 - Elsevier
Objective To present the fetal features of Cornelia de Lange Syndrome (CdLS) with a
molecular confirmation. Study design This was a retrospective study of 13 cases with CdLS …
molecular confirmation. Study design This was a retrospective study of 13 cases with CdLS …
[PDF][PDF] Physiotherapy Intervention for Cornelia De Lange Syndrome-A Scoping Review
AA Arishi, LHA Shammakhi, M Qasheesh, RA Beg… - Practice, 2024 - researchgate.net
Aims & Objective: Introduction: Cornelia de Lange syndrome (CdLS) is a rare genetic
disease. Children with CdLS typically require Physiotherapy, however evidence on the …
disease. Children with CdLS typically require Physiotherapy, however evidence on the …
[HTML][HTML] Пренатальные ультразвуковые признаки синдрома Корнелии де Ланге у монохориальной двойни: клиническое наблюдение
НМ Нормурадова, ОА Хужакулов… - Вопросы …, 2022 - cyberleninka.ru
Обоснование. Синдром Корнелии де Ланге-редкое генетическое заболевание,
проявляющееся низким ростом, аномалиями конечностей, черепно-лицевыми …
проявляющееся низким ростом, аномалиями конечностей, черепно-лицевыми …
Utilidad diagnostica de face2gene en síndrome de Cornelia de lange de casos publicados en pubmed (2017-2022) en el periodo de julio-septiembre 2022.
CE Gutierrez Solis - 2022 - oldri.ues.edu.sv
Face2gene se basa en el análisis dismorfologíco facial y fenotipo clínico para brindar 30
resultados diagnósticos probables en orden de mayor a menor coincidencia de rasgos …
resultados diagnósticos probables en orden de mayor a menor coincidencia de rasgos …
Scoping review of Physiotherapy intervention for a rare disease Cornelia de Lange Syndrome (CdLS)/Brachman de Lange syndrome in children: Physiotherapy …
AA Arishi, LHA Shammakhi, M Qasheesh… - … Journal of Physical …, 2024 - inkwellinfinite.com
Abstract Introduction: Cornelia de Lange syndrome (CdLS) is a rare genetic disease.
Children with CdLS typically require physical therapy, however evidence on the efficacy of …
Children with CdLS typically require physical therapy, however evidence on the efficacy of …