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Page 1
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.
Sarogni P, Pallotta MM, Musio A. Sarogni P, et al. J Med Genet. 2020 May;57(5):289-295. doi: 10.1136/jmedgenet-2019-106277. Epub 2019 Nov 8. J Med Genet. 2020. PMID: 31704779 Free PMC article. Review.
Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. ...
Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. ...
Cornelia de Lange syndrome.
Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Boyle MI, et al. Clin Genet. 2015 Jul;88(1):1-12. doi: 10.1111/cge.12499. Epub 2014 Oct 28. Clin Genet. 2015. PMID: 25209348 Review.
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. ...
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable …
Cornelia de Lange Syndrome.
Cheung K, Upton J. Cheung K, et al. J Hand Surg Am. 2015 Dec;40(12):2501-3. doi: 10.1016/j.jhsa.2015.07.023. Epub 2015 Nov 1. J Hand Surg Am. 2015. PMID: 26537453 Review. No abstract available.
Cornelia de Lange Syndrome.
Deschamps GN. Deschamps GN. Neonatal Netw. 2022 May 1;41(3):145-149. doi: 10.1891/NN-2021-0011. Neonatal Netw. 2022. PMID: 35644361
Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000-100,000 newborns. ...Because there are multiple overlapping phenotypes with Cornelia de Lange syndrome and …
Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/1 …
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.
Olley G, Pradeepa MM, Grimes GR, Piquet S, Polo SE, FitzPatrick DR, Bickmore WA, Boumendil C. Olley G, et al. Nat Commun. 2021 May 25;12(1):3127. doi: 10.1038/s41467-021-23500-6. Nat Commun. 2021. PMID: 34035299 Free PMC article.
Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. ...Furthermore, we find evidence of a similar increase in DNA damage signalling in cells derived from NIPBL- …
Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene enc …
Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.
Selicorni A, Mariani M, Lettieri A, Massa V. Selicorni A, et al. Genes (Basel). 2021 Jul 15;12(7):1075. doi: 10.3390/genes12071075. Genes (Basel). 2021. PMID: 34356091 Free PMC article. Review.
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 major and minor anomalies, over time this syndrome has been sh …
Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field …
Cornelia de Lange Spectrum.
Ascaso Á, Arnedo M, Puisac B, Latorre-Pellicer A, Del Rincón J, Bueno-Lozano G, Pié J, Ramos FJ. Ascaso Á, et al. An Pediatr (Engl Ed). 2024 May;100(5):352-362. doi: 10.1016/j.anpede.2024.04.012. Epub 2024 May 11. An Pediatr (Engl Ed). 2024. PMID: 38735830 Free article.
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. ...Technical advances in large-scale sequencing have allowed the description of additional genes (BRD4, ANKRD11, MAU2), but the lack of molecu …
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. .. …
Chromatinopathies: A focus on Cornelia de Lange syndrome.
Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, Kaiser FJ, Selicorni A, Gervasini C, Massa V. Avagliano L, et al. Clin Genet. 2020 Jan;97(1):3-11. doi: 10.1111/cge.13674. Epub 2019 Nov 24. Clin Genet. 2020. PMID: 31721174 Review.
Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis and clinical evaluation. Here, we review the molecular features of Cornelia de Lange syndrome …
Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpecte …
Ophthalmologic findings in the Cornelia de Lange syndrome.
Shi A, Levin AV. Shi A, et al. Ophthalmic Genet. 2019 Feb;40(1):1-6. doi: 10.1080/13816810.2019.1571617. Epub 2019 Feb 15. Ophthalmic Genet. 2019. PMID: 30767692 Review.
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the ch …
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalitie …
Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?
Avagliano L, Bulfamante GP, Massa V. Avagliano L, et al. Birth Defects Res. 2017 Jun 1;109(10):771-777. doi: 10.1002/bdr2.1045. Epub 2017 May 22. Birth Defects Res. 2017. PMID: 28544538 Review.
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well def …
Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consis …
1,740 results