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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1895 1
1950 1
1952 1
1953 2
1957 2
1958 1
1961 1
1962 1
1963 1
1964 4
1965 7
1966 12
1967 7
1968 7
1969 8
1970 9
1971 7
1972 5
1973 2
1974 5
1975 3
1976 9
1977 7
1978 7
1979 6
1980 4
1981 7
1982 4
1983 2
1984 4
1985 8
1986 6
1987 8
1988 8
1989 5
1990 10
1991 6
1992 2
1993 9
1994 8
1995 5
1996 9
1997 4
1998 15
1999 16
2000 22
2001 29
2002 31
2003 29
2004 37
2005 47
2006 44
2007 64
2008 59
2009 80
2010 90
2011 94
2012 107
2013 117
2014 130
2015 160
2016 122
2017 132
2018 139
2019 154
2020 163
2021 147
2022 141
2023 37
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2,163 results
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Filters applied: . Clear all The following term was not found in PubMed: Adristi
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. ...
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 …
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.
Cascella M, Muzio MR. Cascella M, et al. 2023 Jan 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. 2023 Jan 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 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 …
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 …
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.
Crawford D, Dearmun A. Crawford D, et al. Nurs Child Young People. 2016 Oct 7;28(8):19. doi: 10.7748/ncyp.28.8.19.s24. Nurs Child Young People. 2016. PMID: 27712336
Cornelia de Lange syndrome is a congenital condition that can affect many of a child's systems. ...
Cornelia de Lange syndrome is a congenital condition that can affect many of a child's systems. ...
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.
Behaviour across the lifespan in Cornelia de Lange syndrome.
Groves L, Oliver C, Moss J. Groves L, et al. Curr Opin Psychiatry. 2021 Mar 1;34(2):112-117. doi: 10.1097/YCO.0000000000000671. Curr Opin Psychiatry. 2021. PMID: 33278154 Review.
PURPOSE OF REVIEW: While previous reviews have extended descriptions of the behavioural phenotype of Cornelia de Lange syndrome (CdLS) significantly, potential changes with age across the lifespan have been neglected. ...
PURPOSE OF REVIEW: While previous reviews have extended descriptions of the behavioural phenotype of Cornelia de Lange syndrome (CdLS …
2,163 results