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Items: 1 to 20 of 148

1.

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM; Deciphering Developmental Disorders Study, Bickmore WA, Pradeepa MM, FitzPatrick DR.

Nat Genet. 2019 Jul;51(7):1192. doi: 10.1038/s41588-019-0448-1.

PMID:
31168063
2.

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM, Bickmore WA, Pradeepa MM, FitzPatrick DR; Deciphering Developmental Disorders Study.

Nat Genet. 2018 May;50(5):767. doi: 10.1038/s41588-018-0069-0.

PMID:
29440723
3.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.

Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM; Deciphering Developmental Disorders Study, Bickmore WA, Pradeepa MM, FitzPatrick DR.

Nat Genet. 2018 Mar;50(3):329-332. doi: 10.1038/s41588-018-0042-y. Epub 2018 Jan 29. Erratum in: Nat Genet. 2018 Feb 12;:. Nat Genet. 2019 Jul;51(7):1192.

4.

The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes.

Luna-Peláez N, March-Díaz R, Ceballos-Chávez M, Guerrero-Martínez JA, Grazioli P, García-Gutiérrez P, Vaccari T, Massa V, Reyes JC, García-Domínguez M.

Cell Death Dis. 2019 Jul 18;10(8):548. doi: 10.1038/s41419-019-1792-x.

PMID:
31320616
5.

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Alesi V, Dentici ML, Loddo S, Genovese S, Orlando V, Calacci C, Pompili D, Dallapiccola B, Digilio MC, Novelli A.

Ann Hum Genet. 2019 Mar;83(2):100-109. doi: 10.1111/ahg.12289. Epub 2018 Oct 10.

PMID:
30302754
6.

Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report.

Galehdari H, Monajemzadeh R, Nazem H, Mohamadian G, Pedram M.

J Med Case Rep. 2011 Jun 27;5:242. doi: 10.1186/1752-1947-5-242.

7.

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, Masciadri M, Gervasini C, Bentivegna A, Castronovo P, Larizza L.

Genet Med. 2007 Mar;9(3):188-94.

PMID:
17413424
8.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M, Henry M, Michot C, Baumann C, Bazin A, Bessières B, Blesson S, Cordier-Alex MP, David A, Delahaye-Duriez A, Delezoïde AL, Dieux-Coeslier A, Doco-Fenzy M, Faivre L, Goldenberg A, Layet V, Loget P, Marlin S, Martinovic J, Odent S, Pasquier L, Plessis G, Prieur F, Putoux A, Rio M, Testard H, Bonnefont JP, Cormier-Daire V.

Clin Genet. 2016 May;89(5):584-9. doi: 10.1111/cge.12720. Epub 2016 Feb 3.

9.

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.

Krawczynska N, Wierzba J, Jasiecki J, Wasag B.

BMC Med Genet. 2019 Jan 3;20(1):1. doi: 10.1186/s12881-018-0738-y.

10.

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

Santoro C, Apicella A, Casale F, La Manna A, Di Martino M, Di Pinto D, Indolfi C, Perrotta S.

BMC Cancer. 2016 Jun 13;16:365. doi: 10.1186/s12885-016-2402-2.

11.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J.

Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.

PMID:
24874887
12.

Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases.

Bajaj S, Ranade S, Gambhir P.

Indian J Hum Genet. 2013 Jan;19(1):9-13. doi: 10.4103/0971-6866.112876.

13.

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.

Mende RH, Drake DP, Olomi RM, Hamel BC.

Case Rep Genet. 2012;2012:247683. doi: 10.1155/2012/247683. Epub 2012 Dec 10.

14.

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.

Oliveira J, Dias C, Redeker E, Costa E, Silva J, Reis Lima M, den Dunnen JT, Santos R.

Hum Mutat. 2010 Nov;31(11):1216-22. doi: 10.1002/humu.21352.

PMID:
20824775
15.

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings.

Bhuiyan ZA, Zilfalil BA, Hennekam RC.

Singapore Med J. 2006 Aug;47(8):724-7.

16.

A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.

Kang MJ, Ahn SM, Hwang IT.

Ann Clin Lab Sci. 2018 Jan;48(1):106-109.

PMID:
29531005
17.

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.

Int J Mol Sci. 2017 Feb 23;18(3). pii: E481. doi: 10.3390/ijms18030481.

18.

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

Mei L, Liang D, Huang Y, Pan Q, Wu L.

Gene. 2015 Jan 25;555(2):476-80. doi: 10.1016/j.gene.2014.11.033. Epub 2014 Nov 18.

PMID:
25447906
19.

Special cases in Cornelia de Lange syndrome: The Spanish experience.

Pié J, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Gil-Rodríguez M, Baquero-Montoya C, Ramos-Cáceres M, Bernal M, Ayerza-Casas A, Bueno I, Gómez-Puertas P, Ramos FJ.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):198-205. doi: 10.1002/ajmg.c.31501. Epub 2016 May 10. Review.

PMID:
27164022
20.

Behavioral Phenotype and Autism Spectrum Disorders in Cornelia de Lange Syndrome.

Parisi L, Di Filippo T, Roccella M.

Ment Illn. 2015 Sep 30;7(2):5988. doi: 10.4081/mi.2015.5988. eCollection 2015 Sep 30.

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