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The following term was not found in PubMed: Gyorodi
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 …
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 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. ...
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 …
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.
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. ...Recently, we identified a missense mutation in BRD4 associated with a Cornelia de Lange-like syndrome that reduces BRD4 …
Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loa …
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 …
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
Conti B, Rinaldi B, Rimoldi M, Villa R, Iascone M, Gangi S, Porro M, Ajmone PF, Colli AM, Mosca F, Bedeschi MF. Conti B, et al. Am J Med Genet A. 2023 Jun;191(6):1586-1592. doi: 10.1002/ajmg.a.63164. Epub 2023 Feb 26. Am J Med Genet A. 2023. PMID: 36843271 Free article.
Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital neurodevelopmental disorder (NDD) characterized by distinctive facial anomalies, short stature, developmental delay, hirsutism, gastrointestinal abnormalities and upper limb reduction defects. ...
Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital neurodevelopmental disorder (NDD) characterized by distinctive fac …
A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation.
Panaitescu AM, Duta S, Gica N, Botezatu R, Nedelea F, Peltecu G, Veduta A. Panaitescu AM, et al. Diagnostics (Basel). 2021 Jan 19;11(1):142. doi: 10.3390/diagnostics11010142. Diagnostics (Basel). 2021. PMID: 33478103 Free PMC article. Review.
Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, up …
Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohe …
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. ...The phenotype and presentation vary greatly, though there is a classic phenotype that includes a distinctive craniofacial appearance a …
Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000-100,000 newborn …
2,282 results