Results 151 to 160 of about 2,646 (162)

Recruitment of the Cohesin Loading Factor NIPBL to DNA Double-Strand Breaks Depends on MDC1, RNF168 and HP1γ in Human Cells

Biochemical and Biophysical Research Communications, 2011
Motohiro Yamauchi, Shun'ichi Yamashita, Norisato Mitsutake   +2 more
exaly  

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients With Cornelia De Lange Syndrome

International Journal of Molecular Sciences, 2014
Fernando Santos-Simarro, César H Casale, Feliciano J Ramos   +2 more
exaly  

Mutations and Variants in the Cohesion Factor Genes NIPBL, SMC1A, and SMC3 in a Cohort of 30 Unrelated Patients With Cornelia De Lange Syndrome

American Journal of Medical Genetics, Part A, 2010
Ana Losada, María Arnedo, Maria Pilar Ribate   +2 more
exaly  

Neural Crest Cell-Specific Inactivation of Nipbl or Mau2 During Mouse Development Results in a Late Onset of Craniofacial Defects

Genesis, 2014
Heiko Peters, Tom Strachan
exaly  

Copy Number Analysis of NIPBL in a Cohort of 510 Patients Reveals Rare Copy Number Variants and a Mosaic Deletion

Molecular Genetics & Genomic Medicine, 2014
Daniela Del Gaudio, Nathaniel H Robin, Beth A Kozel   +2 more
exaly  

Clinical Score of 62 Italian Patients With Cornelia De Lange Syndrome and Correlations With the Presence and Type of NIPBL Mutation

Clinical Genetics, 2007
Angela Bentivegna, Cristina Gervasini, Donatella Milani   +2 more
exaly  

NIPBL Expression Levels in CdLS Probands as a Predictor of Mutation Type and Phenotypic Severity

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2016
Matthew A Deardorff, Ian D Krantz, Sarah E Raible   +2 more
exaly  

Intragenic and Large NIPBL Rearrangements Revealed by MLPA in Cornelia De Lange Patients

European Journal of Human Genetics, 2012
Oskar A Haas, Palma Finelli, Cristina Gervasini   +2 more
exaly  

Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia De Lange Syndrome

Human Mutation, 2010
Cristina Dias, Egbert J W Redeker, João Silva   +2 more
exaly  

Father-to-Daughter Transmission of Cornelia De Lange Syndrome Caused by a Mutation in the 5′ Untranslated Region of the NIPBL Gene

Human Mutation, 2006
Arnold Munnich, Laurence Colleaux, Valérie Cormier-Daire   +2 more
exaly