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

Text availability

Article attribute

Article type

Publication date

Search Results

183 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
Puisac B, Teresa-Rodrigo ME, Hernández-Marcos M, Baquero-Montoya C, Gil-Rodríguez MC, Visnes T, Bot C, Gómez-Puertas P, Kaiser FJ, Ramos FJ, Ström L, Pié J. Puisac B, et al. Among authors: strom l. Int J Mol Sci. 2017 Feb 23;18(3):481. doi: 10.3390/ijms18030481. Int J Mol Sci. 2017. PMID: 28241484 Free PMC article.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: strom l. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E, Du L, Visnes T, Björkman A, Lindgren E, Wincent J, Borck G, Colleaux L, Cormier-Daire V, van Gent DC, Pie J, Puisac B, de Miranda NF, Kracker S, Hammarström L, de Villartay JP, Durandy A, Schoumans J, Ström L, Pan-Hammarström Q. Enervald E, et al. Among authors: strom l. J Exp Med. 2013 Nov 18;210(12):2503-13. doi: 10.1084/jem.20130168. Epub 2013 Oct 21. J Exp Med. 2013. PMID: 24145515 Free PMC article.
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.
Björkman A, Du L, van der Burg M, Cormier-Daire V, Borck G, Pié J, Anderlid BM, Hammarström L, Ström L, de Villartay JP, Kipling D, Dunn Walters D, Pan-Hammarström Q. Björkman A, et al. Among authors: strom l. J Allergy Clin Immunol. 2018 Jan;141(1):408-411.e8. doi: 10.1016/j.jaci.2017.06.043. Epub 2017 Aug 5. J Allergy Clin Immunol. 2018. PMID: 28826797 Free article. No abstract available.
A novel mouse model for the hyper-IgM syndrome: a spontaneous activation-induced cytidine deaminase mutation leading to complete loss of Ig class switching and reduced somatic hypermutation.
Dahlberg CI, He M, Visnes T, Torres ML, Cortizas EM, Verdun RE, Westerberg LS, Severinson E, Ström L. Dahlberg CI, et al. Among authors: strom l. J Immunol. 2014 Nov 1;193(9):4732-8. doi: 10.4049/jimmunol.1401242. Epub 2014 Sep 24. J Immunol. 2014. PMID: 25252954 Free PMC article.
183 results