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The following term was not found in PubMed: Muraru-Ionel
Page 1
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 disorder that affect
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. ...
NIPBL and cohesin: new take on a classic tale.
Alonso-Gil D, Losada A. Alonso-Gil D, et al. Trends Cell Biol. 2023 Oct;33(10):860-871. doi: 10.1016/j.tcb.2023.03.006. Epub 2023 Apr 15. Trends Cell Biol. 2023. PMID: 37062615 Free article. Review.
Here, we discuss recent research addressing how NIPBL modulates cohesin activities and how its mutation causes a developmental disorder, Cornelia de Lange Syndrome (CdLS)....
Here, we discuss recent research addressing how NIPBL modulates cohesin activities and how its mutation causes a developmental disorder, …
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. ...
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. ...
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 other syndromes and sequences, early diag
Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000-100,000 newborn
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, supporting the hypothesis that "CdLS- …
Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molecular diagnosis …
Cornelia de Lange Syndrome.
Cascella M, Muzio MR. Cascella M, et al. 2023 Jun 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jun 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32119471 Free Books & Documents.
Cornelia de Lange syndrome (CdLS) was described, in 1933, by the Dutch pediatrician, Cornelia Catharina de Lange, who illustrated two unrelated girls with similar features. ...
Cornelia de Lange syndrome (CdLS) was described, in 1933, by the Dutch pediatrician, Cornelia Catharina de Lange, who illustra
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. ...
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct …
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
Parenti I, Kaiser FJ. Parenti I, et al. Front Neurosci. 2021 Nov 5;15:774950. doi: 10.3389/fnins.2021.774950. eCollection 2021. Front Neurosci. 2021. PMID: 34803598 Free PMC article. Review.
The resulting dysregulation of gene expression favors the onset of a series of clinical features such as developmental delay, intellectual disability, facial dysmorphism, and behavioral disturbances. Cornelia de Lange syndrome (CdLS) is a prime example of a chromatinopathy …
The resulting dysregulation of gene expression favors the onset of a series of clinical features such as developmental delay, intellectual d …
A conversation with Cornelia Bargmann.
Neill US. Neill US. J Clin Invest. 2018 Jul 2;128(7):2655-2656. doi: 10.1172/JCI122804. Epub 2018 Jul 2. J Clin Invest. 2018. PMID: 30108194 Free PMC article. No abstract available.
2,349 results