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ISSN 1029-3043 (Electronic)

2015, Number 4

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Medicentro 2015; 19 (4)

Cornelia de Lange syndrome. A patient report

Santana HEE, Tamayo CVJ, Pupo ZO

Language: Spanish
References: 9
Page: 253-257
PDF size: 140.73 Kb.


Text Extraction

No abstract.


REFERENCES

  1. Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, et al. Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th. Biennial Scientific and Educational Symposium abstracts. Am J Med Genet A [internet]. 2014 Jun. [citado 20 oct. 2014];164(6):[aprox. 10 p.]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36417/abstract;jsessionid=BBD8B16CFBB29A 999D20F6B1BF96A518.f02t01

  2. Pavlidis E, Cantalupo G, Bianchi S, Piccolo B, Pisani F. Epileptic features in Cornelia de Lange syndrome: Case report and literature review. Brain Dev [internet]. 2014 Jan. 22 [citado 20 feb. 2014];36(10):[aprox. 7 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24461912

  3. Dave U, Shetty D. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome. J Obstet Gynaecol India [internet]. 2013 Sep. 29 [citado 20 feb. 2014];64(1):[aprox. 5 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931894/

  4. Teresa-Rodrigo ME, Eckhold J, Puisac B, Dalski A, Gil-Rodríguez MC, Braunholz D, et al. Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome. Int J Mol Sci [internet]. 2014 Jun. 10 [citado 30 nov. 2014];15(6):[aprox. 14 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100155/

  5. Zuin J, Franke V, van Ijcken WF, van der Sloot A, Krantz ID, van der Reijden MI, et al. A cohesin-independent role for NIPBL at promoters provides insights in CdLS. PLoS Genet [internet]. 2014 Feb. 13 [citado 20 jun. 2014];10(2):[aprox. 13 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923681/

  6. Kaiser FJ, Ansari M, Braunholz D, Gil-Rodríguez MC, Decroos C, Wilde JJ, et al. Loss-offunction HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet [internet]. 2014 Jan. 8 [citado 20 jun. 2014];23(11):[aprox. 12 p.]. Disponible en: http://hmg.oxfordjournals.org/content/23/11/2888.long

  7. Barbero JL. Genetic basis of cohesinopathies. Appl Clin Genet [internet]. 2013 May 1 [citado 20 feb. 2014];6:[aprox. 9 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711096/

  8. Gervasini C, Parenti I, Picinelli C, Azzollini J, Masciadri M, Cereda A, et al. Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype. Eur J Med Genet [internet]. 2013 Mar. [citado 20 feb. 2014]; 56(3):[aprox. 6 p.]. Disponible en: http://linkinghub.elsevier.com/retrieve/pii/S1769-7212(13)00003-7

  9. Marchisio P, Selicorni A, Bianchini S, Milani D, Baggi E, Cerutti M, et al. Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome. Int J Pediatr Otorhinolaryngol [internet]. 2014 Jul. [citado 30 oct. 2014];78(7):[aprox. 4 p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/24774220




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