Publications by authors named "Angelo Selicorni"

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Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.
Int J Mol Sci 2018 Feb 1;19(2). Epub 2018 Feb 1.
Dipartimento di Scienze Della Salute, San Paolo Hospital Medical School, Università degli Studi di Milano, 20142 Milan, Italy.


Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med 2018 Jan 4. Epub 2018 Jan 4.
Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.




Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.
J Hum Genet 2016 Apr 10;61(4):283-93. Epub 2015 Dec 10.
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy.



Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
Am J Med Genet A 2016 Jan 5;170A(1):130-4. Epub 2015 Oct 5.
Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Milano Bicocca University, Monza, Italy.


Clinical utility gene card for: Cornelia de Lange syndrome.
Eur J Hum Genet 2015 Oct 24;23(10). Epub 2014 Dec 24.
Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.






Increased nocturnal heart rate and wave reflection are early markers of cardiovascular disease in Williams-Beuren syndrome children.
J Hypertens 2015 Apr;33(4):804-9; discussion 809
aMilano-Bicocca University and Cardiologia IV, Cardiovascular A. De Gasperis Department, Niguarda Ca'Granda Hospital, Milan, Italy bAustrian Institute of Technology, Wien, Austria cPediatric Division Göttingen, Göttingen dI.E.M., Stolberg, Germany ePediatric Clinic Division, Milano-Bicocca University and San Gerardo Hospital, Monza fMilano-Bicocca University and Istituto Auxologico Italiano, Milan, Italy.

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
Nat Genet 2015 Feb 15;47(2):132-41. Epub 2014 Dec 15.
1] Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy. [2] Department of Health Sciences, University of Milan, Milan, Italy.





Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
Epigenetics 2014 Jul 22;9(7):973-9. Epub 2014 Apr 22.
Medical Genetics; Department of Health Sciences; Università degli Studi di Milano; Milan, Italy; Laboratory of Medical Cytogenetics and Molecular Genetics; IRCCS Istituto Auxologico Italiano; Milan, Italy.

Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.
Int J Pediatr Otorhinolaryngol 2014 Jul 8;78(7):1045-8. Epub 2014 Apr 8.
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Cervical spine malformation in cornelia de lange syndrome: a report of three patients.
Am J Med Genet A 2014 Jun 25;164A(6):1520-4. Epub 2014 Mar 25.
Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, Italy.



Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.
Am J Med Genet B Neuropsychiatr Genet 2014 Apr 7;165B(3):223-9. Epub 2014 Feb 7.
Unità Operativa Neuropsichiatria dell'Infanzia e dell'Adolescenza, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.


Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Epigenetics 2013 Oct 5;8(10):1053-60. Epub 2013 Aug 5.
Division of Pathology; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico; Milano, Italy; Department of Pathophysiology and Transplantation; Università degli Studi di Milano; Milano, Italy.

Collagenopathy with a phenotype resembling Silver-Russell syndrome phenotype.
Am J Med Genet A 2013 Oct 5;161A(10):2681-4. Epub 2013 Aug 5.
Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, Italy.

Audiological follow-up of 24 patients affected by Williams syndrome.
Eur J Med Genet 2013 Sep 22;56(9):490-6. Epub 2013 Jul 22.
Audiology Unit, Dip. Scienze Cliniche e di Comunità, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Via Pace 9, 20122 Milano, Italy. Electronic address:

Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome.
Am J Med Genet A 2013 Apr 12;161A(4):817-21. Epub 2013 Mar 12.
Dipartimento di Scienze Mediche UOC di Endocrinologia e Diabetologia, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.




Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Eur J Hum Genet 2012 Jul 22;20(7):734-41. Epub 2012 Feb 22.
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Milan, Italy.

Audiological findings in Williams syndrome: a study of 69 patients.
Am J Med Genet A 2012 Apr 12;158A(4):759-71. Epub 2012 Mar 12.
Audiologic Unit, Department of Specialized Surgical Sciences, University of Milan, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.

Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.
Ophthalmology 2012 Feb 2;119(2):369-75. Epub 2011 Oct 2.
Università degli Studi di Milano, UO Oculistica, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
Am J Med Genet A 2011 Oct 9;155A(10):2459-64. Epub 2011 Sep 9.
Child Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù, Children's Hospital, Rome, Italy.


Immunogenicity, safety and tolerability of monovalent 2009 pandemic influenza A/H1N1 MF59-adjuvanted vaccine in children and adolescents with Williams or Cornelia De Lange syndrome.
Hum Vaccin 2011 Jun 1;7(6):613-7. Epub 2011 Jun 1.
Department of Maternal and Pediatric Sciences, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.



Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.
Am J Med Genet A 2011 Feb 13;155A(2):353-9. Epub 2011 Jan 13.
UOD di Genetica Medica, Dipartimento Salute della donna, del bambino, del neonato, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.








Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling.
J Pediatr Surg 2008 Nov;43(11):e17-20
Department of Otorhinolaryngological and Ophthalmological Sciences, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, University of Milan, 20122 Milan, Italy.

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome.
Am J Med Genet A 2008 Feb;146A(4):426-32
Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.




Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
Mol Cytogenet 2015 26;8:20. Epub 2015 Mar 26.
Medical Cytogenetics and Molecular Genetics Lab, IRCCS Istituto Auxologico Italiano, via Ariosto 13, Milano, 20145 Italy ; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, via Viotti 3/5, Milano, 20133 Italy.


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