scholarly journals NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

2012 ◽  
Vol 14 (3) ◽  
pp. 313-322 ◽  
Author(s):  
Davut Pehlivan ◽  
Melanie Hullings ◽  
Claudia M.B. Carvalho ◽  
Claudia G. Gonzaga-Jauregui ◽  
Elizabeth Loy ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Cornelia De Lange

scholarly journals Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

2013 ◽  
Vol 34 (12) ◽  
pp. 1589-1596 ◽  
Author(s):  
Linda Mannini ◽  
Francesco Cucco ◽  
Valentina Quarantotti ◽  
Ian D. Krantz ◽  
Antonio Musio
Keyword(s):  
Mutation Spectrum ◽  
Cornelia De Lange Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Cornelia De Lange

Mutational and genotype–phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome

2006 ◽  
Vol 140A (14) ◽  
pp. 1531-1541 ◽  
Author(s):  
Jiong Yan ◽  
Gulam Mustafa Saifi ◽  
Tomasz H. Wierzba ◽  
Marjorie Withers ◽  
Gabriel A. Bien-Willner ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Correlation Analyses ◽  
Cornelia De Lange

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome

2015 ◽  
Vol 2015 (mar24 2) ◽  
pp. bcr2014209124-bcr2014209124 ◽  
Author(s):  
A. Galderisi ◽  
G. De Bernardo ◽  
E. Lorenzon ◽  
D. Trevisanuto
Keyword(s):  
Low Birthweight ◽  
Cornelia De Lange Syndrome ◽  
Very Low Birthweight ◽  
Cornelia De Lange ◽  
Very Low Birthweight Infant
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