Angelo Selicorni

Angelo Selicorni

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Angelo Selicorni

Angelo Selicorni

Publications by authors named "Angelo Selicorni"

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100Publications

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Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Acta Neurol Scand 2018 Aug 14. Epub 2018 Aug 14.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy.

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August 2018

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.

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February 2018

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.

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January 2018

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.

Orphanet J Rare Dis 2017 11 21;12(1):174. Epub 2017 Nov 21.

Department of Health Sciences, San Paolo Hospital Medical School University of Milan, Via A. di Rudinì, 8, 20142, Milan, Italy.

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November 2017

Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.

Birth Defects Res 2017 Oct 28;109(16):1268-1276. Epub 2017 Jul 28.

Università degli Studi di Milano, Dipartimento di Scienze della Salute, Milan, Italy.

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October 2017

Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.

Am J Med Genet A 2017 Feb 21;173(2):546-549. Epub 2016 Nov 21.

Clinical Genetic Pediatric Unit, Pediatric Department of MBBM Foundation, S. Gerardo Hospital, Monza, Italy.

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February 2017

Williams syndrome and mature B-Leukemia: A random association?

Eur J Med Genet 2016 Dec 19;59(12):634-640. Epub 2016 Oct 19.

Department of Pediatrics, University of Milan Bicocca, Fondazione MBBM, Monza, Italy; Department of Pediatrics, Presidio S. Fermo, ASST Lariana, Como, Italy. Electronic address:

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December 2016

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

Am J Med Genet A 2016 Aug 27;170(8):2191-5. Epub 2016 May 27.

Department of Pediatric, Pediatric Genetic Unit, MBBM Foundation A.O.S. Gerardo, Monza, Italy.

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August 2016

14q32.3-qter trisomic segment: a case report and literature review.

Mol Cytogenet 2016 5;9:60. Epub 2016 Aug 5.

Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.

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August 2016

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.

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April 2016

Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.

Am J Med Genet A 2016 Mar 24;170(3):777-80. Epub 2015 Dec 24.

Department of Pediatrics, Pediatric Genetic Unit, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.

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March 2016

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.

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January 2016

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.

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October 2015

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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April 2015

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.

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April 2015

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.

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February 2015

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

Am J Med Genet A 2014 Dec 24;164A(12):3154-61. Epub 2014 Sep 24.

Developmental Neurology Division, Carlo Besta Neurological Institute, I.R.C.C.S. Foundation, Milan, Italy.

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December 2014

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.

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July 2014

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.

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July 2014

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.

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June 2014

Hemostatic abnormalities in Noonan syndrome.

Pediatrics 2014 May;133(5):e1299-304

Department of Internal Medicine and Medical Specialties, A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy;

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May 2014

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.

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April 2014

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.

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October 2013

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.

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October 2013

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:

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September 2013

Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Am J Med Genet A 2013 Sep 29;161A(9):2316-20. Epub 2013 Jul 29.

Clinical Genetics Service, V. Buzzi Children's Hospital, ICP, Milan, Italy.

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September 2013

Two cases of hepatic adenomas in patients with Wolf-Hirschhorn syndrome: a new rare complication?

Am J Med Genet A 2013 Jul 21;161A(7):1759-62. Epub 2013 May 21.

Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, S.Gerardo Hospital, Monza, Italy.

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July 2013

Balance function in patients with Williams syndrome.

Gait Posture 2013 Jun 7;38(2):221-5. Epub 2012 Dec 7.

Audiology Unit, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Via Pace 9, I-20122 Milano, Italy.

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June 2013

A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

Am J Med Genet A 2013 Jun 23;161A(6):1401-4. Epub 2013 Apr 23.

Pediatric Genetic Unit, Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, S.Gerardo Hospital, Monza, Italy.

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June 2013

First evidence of vertical paternal transmission of osteopatia striata with cranial sclerosis.

Am J Med Genet A 2013 May 13;161A(5):1173-6. Epub 2013 Mar 13.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.

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May 2013

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.

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April 2013

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.

Eur J Med Genet 2013 Mar 8;56(3):138-43. Epub 2013 Jan 8.

Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Via A. di Rudinì 8, 20142 Milan, Italy.

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March 2013

A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.

Am J Med Genet A 2013 Mar 22;161A(3):611-8. Epub 2013 Jan 22.

Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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March 2013

The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome.

Childs Nerv Syst 2012 Dec 23;28(12):2163-8. Epub 2012 Aug 23.

Clinica Neurochirurgica, Ospedale San Gerardo, Università degli Studi Milano-Bicocca, via Pergolesi 33, Monza, Italy.

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December 2012

A new report of Cornelia de Lange syndrome associated with split hand and feet.

Am J Med Genet A 2012 Nov 18;158A(11):2953-5. Epub 2012 Sep 18.

Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM, AO S Gerardo, Monza, Italy.

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November 2012

Omphalocele in a patient with Noonan syndrome.

Clin Dysmorphol 2012 Oct;21(4):215-7

Pediatric Department, MBBM Foundation, AOS Gerardo, Monza, Italy.

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October 2012

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.

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July 2012

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.

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April 2012

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.

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February 2012

Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.

Eur J Med Genet 2012 Feb 17;55(2):124-7. Epub 2011 Dec 17.

Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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February 2012

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.

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October 2011

Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.

Eur J Med Genet 2011 Jan-Feb;54(1):55-9. Epub 2010 Oct 20.

Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy.

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June 2011

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.

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June 2011

Cancer predisposition in children with Kabuki syndrome.

Am J Med Genet A 2011 Jun 5;155A(6):1504. Epub 2011 May 5.

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June 2011

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.

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February 2011

Barrett's esophagus and Cornelia de Lange Syndrome.

Acta Paediatr 2010 Sep;99(9):1407-10

Pediatric Surgery Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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September 2010

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Chromosome Res 2009 19;17(6):763-71. Epub 2009 Aug 19.

Division of Medical Genetics, San Paolo School of Medicine, University of Milan, via A. di Rudinì 8, 20142 Milan, Italy.

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December 2009

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.

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November 2008

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.

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February 2008