Literature DB >> 9482657

Brachmann-de Lange syndrome and congenital heart disease.

M Tsukahara, N Okamoto, H Ohashi, K Kuwajima, I Kondo, H Sugie, T Nagai, K Naritomi, T Hasegawa, Y Fukushima, M Masuno, Y Kuroki.   

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Year:  1998        PMID： 9482657     DOI： 10.1002/(sici)1096-8628(19980203)75:4<441::aid-ajmg20>3.0.co;2-n

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

1.  Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Authors:  Kathryn C Chatfield; Samantha A Schrier; Jennifer Li; Dinah Clark; Maninder Kaur; Antonie D Kline; Matthew A Deardorff; Laird S Jackson; Elizabeth Goldmuntz; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-09-10       Impact factor: 2.802

Review 2.  Cornelia de Lange syndrome, cohesin, and beyond.

Authors:  J Liu; I D Krantz
Journal:  Clin Genet       Date:  2009-10       Impact factor: 4.438

3.  Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report.

Authors:  Oguzhan Arun; Bahar Oc; Esma Nur Metin; Ahmet Sert; Resul Yilmaz; Mehmet Oc
Journal:  World J Cardiol       Date:  2022-01-26

4.  Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Authors:  Shimako Kawauchi; Anne L Calof; Rosaysela Santos; Martha E Lopez-Burks; Clint M Young; Michelle P Hoang; Abigail Chua; Taotao Lao; Mark S Lechner; Jeremy A Daniel; Andre Nussenzweig; Leonard Kitzes; Kyoko Yokomori; Benedikt Hallgrimsson; Arthur D Lander
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917

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

Authors:  Natalia Krawczynska; Jolanta Wierzba; Jacek Jasiecki; Bartosz Wasag
Journal:  BMC Med Genet       Date:  2019-01-03       Impact factor: 2.103

6.  Successful difficult airway management using GlideScope video laryngoscope in a child with Cornelia de Lange Syndrome.

Authors:  Sang-Jin Park; Eun Kyung Choi; Suyong Park; Kunjin Bae; Deokhee Lee
Journal:  Yeungnam Univ J Med       Date:  2018-12-31
  6 in total

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