Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1967 1
1968 2
1972 2
1973 1
1974 1
1978 1
1981 1
1985 2
1987 2
1990 3
1993 4
1994 2
1995 2
1996 2
1997 1
1998 4
1999 2
2000 4
2001 6
2002 4
2003 2
2004 3
2005 4
2006 4
2007 8
2008 4
2009 8
2010 6
2011 4
2012 5
2013 9
2014 8
2015 10
2016 12
2017 13
2018 6
2019 8
2020 7
2021 10
2022 10
2023 4
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

170 results

Results by year

Filters applied: . Clear all
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 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. ...
KMT2A: Umbrella Gene for Multiple Diseases.
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C. Castiglioni S, et al. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 Free PMC article. Review.
KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin-Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrome, Rubinstein- …
KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several …
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, Cor …
Advancing the global public health agenda for NAFLD: a consensus statement.
Lazarus JV, Mark HE, Anstee QM, Arab JP, Batterham RL, Castera L, Cortez-Pinto H, Crespo J, Cusi K, Dirac MA, Francque S, George J, Hagström H, Huang TT, Ismail MH, Kautz A, Sarin SK, Loomba R, Miller V, Newsome PN, Ninburg M, Ocama P, Ratziu V, Rinella M, Romero D, Romero-Gómez M, Schattenberg JM, Tsochatzis EA, Valenti L, Wong VW, Yilmaz Y, Younossi ZM, Zelber-Sagi S; NAFLD Consensus Consortium. Lazarus JV, et al. Nat Rev Gastroenterol Hepatol. 2022 Jan;19(1):60-78. doi: 10.1038/s41575-021-00523-4. Epub 2021 Oct 27. Nat Rev Gastroenterol Hepatol. 2022. PMID: 34707258 Free article. Review.
It is a multisystem disease and is considered the hepatic component of metabolic syndrome. Unlike other highly prevalent conditions, NAFLD has received little attention from the global public health community. ...
It is a multisystem disease and is considered the hepatic component of metabolic syndrome. Unlike other highly prevalent conditions, …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesinopathy is Cornelia de Lange syndrome (CdLS), in which intellectual and growth retardations are the main phenotypic mani …
Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesin …
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A. Sabus A, et al. Pharmacotherapy. 2019 Jun;39(6):645-664. doi: 10.1002/phar.2238. Epub 2019 Mar 27. Pharmacotherapy. 2019. PMID: 30793794 Free PMC article. Review.
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan disease, cri du chat syndrome, Prader-Willi syndrome, pervasive developmental disorders, fragile X syndrome, Re …
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesc …
Self-injurious behavior.
Huisman S, Mulder P, Kuijk J, Kerstholt M, van Eeghen A, Leenders A, van Balkom I, Oliver C, Piening S, Hennekam R. Huisman S, et al. Neurosci Biobehav Rev. 2018 Jan;84:483-491. doi: 10.1016/j.neubiorev.2017.02.027. Epub 2017 Jul 8. Neurosci Biobehav Rev. 2018. PMID: 28694012 Free article. Review.
We demonstrate that the prevalence of SIB in several well-known genetic intellectual disability syndromes is noticeably higher than in individuals with ID in general, and that characteristics such as age of onset and topographies differ widely across syndromes. Each syndrome …
We demonstrate that the prevalence of SIB in several well-known genetic intellectual disability syndromes is noticeably higher than in indiv …
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 character …
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, incl …
170 results