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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. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and …
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disord …
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Kline AD, et al. Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0. Nat Rev Genet. 2018. PMID: 29995837 Free PMC article. Review.
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. ...
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disa …
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. ...
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniof …
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by h …
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 syndrom …
Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000-1 …
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, supportin …
Therefore, Cornelia de Lange syndrome diagnosis might be arduous due to the seldom discordance between unexpected molec …
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.
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.
Etiology and pathogenesis of the cohesinopathies.
Zakari M, Yuen K, Gerton JL. Zakari M, et al. Wiley Interdiscip Rev Dev Biol. 2015 Sep-Oct;4(5):489-504. doi: 10.1002/wdev.190. Epub 2015 Apr 7. Wiley Interdiscip Rev Dev Biol. 2015. PMID: 25847322 Free PMC article. Review.
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 d …
Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital neurodevelopmental disorder (NDD) characteriz …
1,616 results