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American Journal of Medical Genetics. Part A|July 11, 2020
Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrumBarbara Parma, Paola Cianci, Valentina Decimi, et al.
Human Molecular Genetics|December 13, 2006
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumourAngela Sparago, Silvia Russo, Flavia Cerrato, et al.
American Journal of Medical Genetics. Part A|January 13, 2009
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascadeLaura Cesarini, Paolo Alfieri, Francesca Pantaleoni, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivityPaolo Alfieri, Laura Cesarini, Paola De Rose, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndromeAngelo Selicorni, Anna Maria Colli, Alice Passarini, et al.
Human Molecular Genetics|September 22, 2018
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiationDaniele Bottai, Marco Spreafico, Anna Pistocchi, et al.
Genetics Research|March 5, 2019
Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromesDeborah J G Mackay, Jet Bliek, Maria Paola Lombardi, et al.
Genomics|September 15, 2007
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpointsCristina Gervasini, Paola Castronovo, Angela Bentivegna, et al.
Orphanet Journal of Rare Diseases|June 13, 2022
Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi studyRavi Savarirayan, Wagner Baratela, Thomas Butt, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)Francesca R Grati, Marci M Lesperance, Simona De Toffol, et al.
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