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Angelo Selicorni

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Sara Ciceri; Chiara Fossati; Paolo Radice; Angelo Selicorni; Elisa Cattaneo; Daniela Perotti
First evidence of vertical paternal transmission of osteopatia striata with cranial sclerosis.
Benedetta Masserini; Giulietta Scuvera; Angelo Selicorni; Paolo Beck-Peccoz; Maria Francesca Bedeschi; Vera Bianchi; Faustina Lalatta; Emanuela Orsi
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome.
Chiara Castronovo; Anna Cereda; Milena Crippa; Cristina Gervasini; Daniela Giardino; Lidia Larizza; Donatella Milani; Daniela Rusconi; Angelo Selicorni; Palma Finelli
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.

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2013: Sara Ciceri; Chiara Fossati; Paolo Radice; Angelo Selicorni; Elisa Cattaneo; Daniela Perotti
First evidence of vertical paternal transmission of osteopatia striata with cranial sclerosis.
American journal of medical genetics. Part A 2013;161(5):1173-6.
2013: Benedetta Masserini; Giulietta Scuvera; Angelo Selicorni; Paolo Beck-Peccoz; Maria Francesca Bedeschi; Vera Bianchi; Faustina Lalatta; Emanuela Orsi
Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome.
American journal of medical genetics. Part A 2013;161(4):817-21.
2013: Chiara Castronovo; Anna Cereda; Milena Crippa; Cristina Gervasini; Daniela Giardino; Lidia Larizza; Donatella Milani; Daniela Rusconi; Angelo Selicorni; Palma Finelli
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
American journal of medical genetics. Part A 2013;161(3):611-8.
2013: Cristina Gervasini; Jacopo Azzollini; Anna Cereda; Palma Finelli; Maura Masciadri; Ilaria Parenti; Chiara Picinelli; Silvia Russo; Angelo Selicorni; Lidia Larizza
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
European journal of medical genetics 2013;56(3):138-43.
2013: Cristina Gervasini; Lidia Larizza; Cinzia Marzocchi; Maura Masciadri; Chiara Picinelli; Daniela Rusconi; Silvia Russo; Angelo Selicorni; Romano Tenconi; Giuseppe Zampino; Jacopo Azzollini; Anna Cereda; Palma Finelli
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
BMC medical genetics 2013;14():41.
2012: Carlo Giussani; Pablo Ingelmo; Andrea Landi; Matteo Riva; Angelo Selicorni; Francesco Canonico; Chiara Fossati; Andrea Trezza; Erik P Sganzerla
The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2012;28(12):2163-8.
2012: Chiara Barboni; Andrea Biondi; Anna Cereda; Cristina Gervasini; Milena Mariani; Paola Ajmone; Angelo Selicorni
A new report of Cornelia de Lange syndrome associated with split hand and feet.
American journal of medical genetics. Part A 2012;158A(11):2953-5.
2012: Manuela Priolo; Paolo Prontera; Angelo Selicorni; Leopoldo Zelante; Federica Zucchetti; Bartolomeo Augello; Elisa Biamino; Carmela Fusco; Carmelo Laganà; Corrado Mammì; Lucia Micale; Valeria Paduano; Giuseppe Merla
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
Molecular genetics and metabolism 2012;107(3):627-9.
2012: Laura Longoni; Paola Cianci; Valeria D'Apolito; Angelo Selicorni
Omphalocele in a patient with Noonan syndrome.
Clinical dysmorphology 2012;21(4):215-7.
2012: Nuria Garcia Segarra; Toni Hospach; Esra Kilic; Jasmin B Kuemmerle-Deschner; Laureane Mittaz; Geert Mortier; Sonja Mrusek; Sheela Nampoothiri; Ewa Obersztyn; Richard M Pauli; Angelo Selicorni; Andrea Superti-Furga; Romano Tenconi; Beyhan Tuysuz; Sheila Unger; G Eda Utine; Matthew L Warman; Michael Wright; Bernhard Zabel; Ana Belinda Campos-Xavier; Rolando Cimaz; Valérie Cormier-Daire; Maja Di Rocco; Hans-Christoph Duba; Nursel H Elcioglu; Francesca Forzano; Yasemin Alanay; Cynthia F Bartels; Luisa Bonafé
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
American journal of medical genetics. Part C, Seminars in medical genetics 2012;160C(3):217-29.
2012: Silvia Russo; Gioacchino Scarano; Angelo Selicorni; Romano Tenconi; Giuseppe Zampino; Jacopo Azzollini; Anna Cereda; Maja Di Rocco; Palma Finelli; Cristina Gervasini; Oskar Haas; Maura Masciadri; Lidia Larizza
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
European journal of human genetics : EJHG 2012;20(7):734-41.
2012: Stefania Barozzi; Anna Borghi; Umberto Ambrosetti; Antonio Cesarani; Elisabetta Comiotto; Stella Forti; Chiara Gagliardi; Chiara Gavioli; Angelo Selicorni; Daniela Soi; Emanuela Spreafico; Daniele Brambilla
Audiological findings in Williams syndrome: a study of 69 patients.
American journal of medical genetics. Part A 2012;158A(4):759-71.
2012: Lucia Ballarati; Rossella Caselli; Anna Cereda; Lidia Larizza; Silvia Maitz; Silvia Russo; Angelo Selicorni; Daniela Giardino
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
European journal of medical genetics 2012;55(2):124-7.
2012: Francesco Viola; Angelo Selicorni; Diego Vezzola; Edoardo Villani; Giulio Barteselli; Chiara Mapelli; Giulia Melloni; Federica Natacci; Cesare Pirondini; Roberto Ratiglia
Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.
Ophthalmology 2012;119(2):369-75.
2011: Paolo Alfieri; Janette Atkinson; Giovanni Baranello; Laura Cesarini; Paola De Rose; Andrea Guzzetta; Maria Mallardi; Deny Menghini; Daniela Ricci; Angelo Selicorni; Francesca Tinelli; Stefano Vicari; Giuseppe Zampino; Eugenio Mercuri
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
American journal of medical genetics. Part A 2011;155A(10):2459-64.
2011: Francesca Lepri; Bruno Marino; Laura Mazzanti; Giovanni Neri; Francesca Pantaleoni; Alba Pilotta; Cesare Rossi; Angelo Selicorni; Margherita Cirillo Silengo; Franco Stanzial; Lorenzo Stella; Giuseppina Baldassarre; Michela Bonaguro; Viviana Caputo; Viviana Cordeddu; Bruno Dallapiccola; Alessandro De Luca; Maria L Dentici; Maria Cristina Digilio; Maria F Faienza; Francesca Faravelli; Giovanni B Ferrero; Orazio Gabrielli; Bruce D Gelb; Ines Kavamura; Isabella Torrrente; Serenella Venanzi; Bradley J Williams; Giuseppe Zampino; Marco Tartaglia
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Human mutation 2011;32(7):760-72.
2011: Michela Casanova; Angelo Selicorni; Andrea Ferrari
Cancer predisposition in children with Kabuki syndrome.
American journal of medical genetics. Part A 2011;155A(6):1504.
2011: Susanna Esposito; Carlotta Galeone; Francesca Menni; Marta Cerutti; Silvia Consolo; Cristina Daleno; Angelo Selicorni; Antonia Valzano; Nicola Principi
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.
Human vaccines 2011;7(6):613-7.
2011: Maria Francesca Bedeschi; Vera Bianchi; Anna Maria Colli; Federica Natacci; Anna Cereda; Donatella Milani; Silvia Maitz; Faustina Lalatta; Angelo Selicorni
Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.
American journal of medical genetics. Part A 2011;155A(2):353-9.
2011: Lucia Ballarati; Anna Cereda; Rossella Caselli; Angelo Selicorni; Maria P Recalcati; Silvia Maitz; Palma Finelli; Lidia Larizza; Daniela Giardino
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
European journal of medical genetics 2011;54(1):55-9.
2011: Simone Gana; Michela Panizzon; Daniela Fongaro; Angelo Selicorni; Luigi Memo; Valeria Scandurra; Chiara Vannucci; Marta Bigozzi; Maria Rosaria Scordo
Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder.
Clinical dysmorphology 2011;20(1):38-41.
2010: Paola Castronovo; A Delahaye-Duriez; Cristina Gervasini; J Azzollini; F Minier; Silvia Russo; M Masciadri; Angelo Selicorni; Alain Verloes; Lidia Larizza
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
Clinical genetics 2010;78(6):560-4.
2010: Veronica Parri; Eleni Katzaki; Vera Uliana; Francesca Scionti; Rossella Tita; Rosangela Artuso; Ilaria Longo; Renske Boschloo; Raymon Vijzelaar; Angelo Selicorni; Francesco Brancati; Bruno Dallapiccola; Leopoldo Zelante; Christian P Hamel; Pierre Sarda; Seema R Lalani; Rita Grasso; Sabrina Buoni; Joussef Hayek; Laurent Servais; Bert B A de Vries; Nelly Georgoudi; Sheena Nakou; Michael B Petersen; Francesca Mari; Alessandra Renieri; Francesca Ariani
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
European journal of human genetics : EJHG 2010;18(10):1133-40.
2010: Rossella Caselli; Lucia Ballarati; Angelo Selicorni; Donatella Milani; Silvia Maitz; Chiara Valtorta; Lidia Larizza; Daniela Giardino
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
European journal of medical genetics 2010;53(5):325-8.
2010: Francesco Macchini; Giorgio Fava; Angelo Selicorni; Maurizio Torricelli; Ernesto Leva; Alberto Valadè
Barrett's esophagus and Cornelia de Lange Syndrome.
Acta paediatrica (Oslo, Norway : 1992) 2010;99(9):1407-10.
2010: Cristina Gervasini; Federica Mottadelli; Roberto Ciccone; Paola Castronovo; Donatella Milani; Gioacchino Scarano; Maria Francesca Bedeschi; Serena Belli; Alba Pilotta; Angelo Selicorni; Orsetta Zuffardi; Lidia Larizza
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
European journal of human genetics : EJHG 2010;18(7):768-75.
2010: Laura Cardarelli; Angela Sparago; Agostina De Crescenzo; Elisa Nalesso; Barbara Zavan; Maria Vittoria Cubellis; Angelo Selicorni; Paola Cavicchioli; Giovanni Battista Pozzan; Marilena Petrella; Andrea Riccio
Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2010;13(4):326-30.
2010: Chris Oliver; Maria Francesca Bedeschi; Natalie Blagowidow; Cheri S Carrico; Anna Cereda; David R Fitzpatrick; Cristina Gervasini; Gemma M Griffith; ANTONIE KLINE; P Marchisio; Joanna Moss; Feliciano J Ramos; Angelo Selicorni; Penny Tunnicliffe; Jolanta Wierzba; Raoul C M Hennekam
Cornelia de Lange syndrome: extending the physical and psychological phenotype.
American journal of medical genetics. Part A 2010;152A(5):1127-35.
2009: Giovanna Olioso; Alice Passarini; Francesca Atzeri; Donatella Milani; Anna Cereda; Marta Cerutti; Silvia Maitz; Francesca Menni; Angelo Selicorni
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.
American journal of medical genetics. Part A 2009;149A(11):2532-7.
2009: Angelo Selicorni; Anna Maria Colli; Alice Passarini; Donatella Milani; Anna Cereda; Marta Cerutti; Silvia Maitz; Viviana Alloni; Laura Salvini; Maria Albina Galli; Silvia Ghiglia; Patrizia Salice; Gian Battista Danzi
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome.
American journal of medical genetics. Part A 2009;149A(6):1268-72.
2009: Francesca R Grati; Marci M Lesperance; Simona De Toffol; Sara Chinetti; Angelo Selicorni; Sarah Emery; Beatrice Grimi; Francesca Dulcetti; Barbara Malvestiti; Joseph Taylor; Silvia Milani; Anna M Ruggeri; Federico Maggi; Giuseppe Simoni
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).
American journal of medical genetics. Part A 2009;149A(5):906-13.
2009: Anna Sarkozy; Claudio Carta; Sonia Moretti; Giuseppe Zampino; Maria C Digilio; Francesca Pantaleoni; Anna Paola Scioletti; Giorgia Esposito; Viviana Cordeddu; Francesca Lepri; Valentina Petrangeli; Maria L Dentici; Grazia M S Mancini; Angelo Selicorni; Cesare Rossi; Laura Mazzanti; Bruno Marino; Giovanni B Ferrero; Margherita Cirillo Silengo; Luigi Memo; Franco Stanzial; Francesca Faravelli; Liborio Stuppia; Efisio Puxeddu; Bruce D Gelb; Bruno Dallapiccola; Marco Tartaglia
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Human mutation 2009;30(4):695-702.
2009: Stefania Barozzi; Federica Di Berardino; F Atzeri; E Filipponi; M Cerutti; Angelo Selicorni; Antonio Cesarani
Audiological and vestibular findings in the Kabuki syndrome.
American journal of medical genetics. Part A 2009;149A(2):171-6.
2009: Laura Cesarini; Paolo Alfieri; Francesca Pantaleoni; Isabella Vasta; Marta Cerutti; Valentina Petrangeli; Paolo Mariotti; Chiara Leoni; Daniela Ricci; Stefano Vicari; Angelo Selicorni; Marco Tartaglia; Eugenio Mercuri; Giuseppe Zampino
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
American journal of medical genetics. Part A 2009;149A(2):140-6.
2009: Paola Castronovo; Cristina Gervasini; Anna Cereda; Maura Masciadri; Donatella Milani; Silvia Russo; Angelo Selicorni; Lidia Larizza
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2009;17(6):763-71.
2009: Vera Kalscheuer; Luciana Musante; Cheng Fang; Kirsten Hoffmann; Celine Fuchs; Eloisa Carta; Emma Deas; Kanamarlapudi Venkateswarlu; Corinna Menzel; Reinhard Ullmann; Niels Tommerup; Leda Dalprà; Andreas Tzschach; Angelo Selicorni; Bernhard Lüscher; Hans-Hilger Ropers; Kirsten Harvey; Robert J Harvey
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Human mutation 2009;30(1):61-8.
2008: P Alfieri; Laura Cesarini; Giuseppe Zampino; Francesca Pantaleoni; Angelo Selicorni; A Salerni; Isabella Vasta; M Cerutti; Anna Dickmann; Francesca Colitto; S Staccioli; C Leoni; Daniela Ricci; C Brogna; Marco Tartaglia; Eugenio Mercuri
Visual function in Noonan and LEOPARD syndrome.
Neuropediatrics 2008;39(6):335-40.
2008: Cristina Gervasini; Rolph Pfundt; Paola Castronovo; Silvia Russo; Gaia Roversi; M Masciadri; Donatella Milani; G Zampino; Angelo Selicorni; E F P M Schoenmakers; Lidia Larizza
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
Clinical genetics 2008;74(6):531-8.
2008: Pasquale Capaccio; Ignazio Alessandro Clemente; Paola Marchisio; Angelo Selicorni; Susanna Esposito; Lorenzo Pignataro
Videoendoscopic rehabilitation of iatrogenous Stensen-duct-acquired atresia in a patient with ring chromosome 21 syndrome and drooling.
Journal of pediatric surgery 2008;43(11):e17-20.
2008: Paola Marchisio; Angelo Selicorni; Lorenzo Pignataro; Donatella Milani; Elena Baggi; Lara Lambertini; Elisa Dusi; Laura Villa; Pasquale Capaccio; Marta Cerutti; Susanna Esposito; Nicola Principi
Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome.
American journal of medical genetics. Part A 2008;146A(4):426-32.
2007: Marcella Zollino; Rosetta Lecce; Marina Murdolo; Daniela Orteschi; Giuseppe Marangi; Angelo Selicorni; Alina Midro; Giovanni Sorge; Giuseppe Zampino; Luigi Memo; Domenica Battaglia; Michael Petersen; Effie Pandelia; Yolanda Gyftodimou; Francesca Faravelli; Romano Tenconi; Livia Garavelli; Laura Mazzanti; Rita Fischetto; Pietro Cavalli; Salvatore Savasta; Laura Rodriguez; Giovanni Neri
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.
Human genetics 2007;122(5):423-30.
2007: Cristina Gervasini; Paola Castronovo; Angela Bentivegna; Federica Mottadelli; Francesca Faravelli; Maria Luisa Giovannucci Uzielli; Alice Pessagno; Emanuela Lucci-Cordisco; Anna Maria Pinto; Leonardo Salviati; Angelo Selicorni; Romano Tenconi; Giovanni Neri; Lidia Larizza
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.
Genomics 2007;90(5):567-73.
2007: Luigi Memo; Angelo Selicorni; Giuseppe Zampino
[Follow-up of the neonate with malformation syndrome].
Minerva pediatrica 2007;59(5):503-6.
2007: Francesco Macchini; Angelo Selicorni; Sergio Luzzani; Donatella Milani; Paola Roggero; Alberto Valadè
Coeliac disease and Cornelia de Lange syndrome: lack of association.
Acta paediatrica (Oslo, Norway : 1992) 2007;96(10):1518-20.
2007: Angelo Selicorni; Silvia Russo; Cristina Gervasini; Paola Castronovo; Donatella Milani; Florinda Cavalleri; Angela Bentivegna; Maura Masciadri; A Domi; M T Divizia; Cinzia Sforzini; E Tarantino; Luigi Memo; Gioacchino Scarano; Lidia Larizza
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Clinical genetics 2007;72(2):98-108.
2007: Bhaswati Pandit; Anna Sarkozy; Len A Pennacchio; Claudio Carta; Kimihiko Oishi; Simone Martinelli; Edgar A Pogna; Wendy Schackwitz; Anna Ustaszewska; Andrew P Landstrom; J Martijn Bos; Steve R Ommen; Giorgia Esposito; Francesca Lepri; Faul Christian; Peter Mundel; Juan Pedro López-Siguero; Romano Tenconi; Angelo Selicorni; cesare rossi; Laura Mazzanti; Isabella Torrente; Bruno Marino; Maria Cristina Digilio; Giuseppe Zampino; Michael J Ackerman; Bruno Dallapiccola; Marco Tartaglia; Bruce D Gelb
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nature genetics 2007;39(8):1007-12.
2007: Donatella Milani; Stefano D'Arrigo; Alessandra Erbetta; Angelo Selicorni; Daria Riva; Chiara Pantaleoni
Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case.
Journal of child neurology 2007;22(7):883-6.
2007: ANTONIE KLINE; Ian D Krantz; Annemarie Sommer; Mark Kliewer; Laird G Jackson; David R FitzPatrick; Alex V Levin; Angelo Selicorni
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.
American journal of medical genetics. Part A 2007;143A(12):1287-96.
2007: Giuseppe Zampino; Francesca Pantaleoni; Claudio Carta; Gilda Cobellis; Isabella Vasta; Cinzia Neri; Edgar A Pogna; Emma De Feo; Angelica Delogu; Anna Sarkozy; Francesca Atzeri; Angelo Selicorni; Katherine A Rauen; Cheryl S Cytrynbaum; Rosanna Weksberg; Bruno Dallapiccola; Andrea Ballabio; Bruce D Gelb; Giovanni Neri; Marco Tartaglia
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Human mutation 2007;28(3):265-72.
2007: Andrea Righini; R Ciosci; Angelo Selicorni; Elena Bianchini; Cecilia Parazzini; Marcella Zollino; M Lodi; Fabio Triulzi
Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome.
Neuropediatrics 2007;38(1):25-8.
2007: Angela Sparago; Silvia Russo; Flavia Cerrato; Serena Ferraiuolo; Pierangela Castorina; Angelo Selicorni; Christine Schwienbacher; Massimo Negrini; Giovanni Battista Ferrero; Margherita Silengo; Cecilia Anichini; Lidia Larizza; Andrea Riccio
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
Human molecular genetics 2007;16(3):254-64.
2007: Eleni Katzaki; Chiara Pescucci; Vera Uliana; Filomena Tiziana Papa; Francesca Ariani; Ilaria Meloni; Manuela Priolo; Angelo Selicorni; Donatella Milani; Rita Fischetto; Maria Elena Celle; Rita Grasso; Bruno Dallapiccola; Francesco Brancati; Marta Bordignon; Romano Tenconi; Antonio Federico; Francesca Mari; Alessandra Renieri; Ilaria Longo
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Journal of human genetics 2007;52(12):1011-7.
2006: Donatella Milani; Stefano D'Arrigo; Silvana Guerneri; Angelo Selicorni; Daria Riva; Chiara Pantaleoni
De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.
Journal of child neurology 2006;21(12):1084-5.
2006: Angelo Selicorni; A Fratoni; M A Pavesi; Michaela Bottigelli; E Arnaboldi; Donatella Milani
Thyroid anomalies in Williams syndrome: investigation of 95 patients.
American journal of medical genetics. Part A 2006;140(10):1098-101.
2006: Antonio Musio; Angelo Selicorni; Maria Luisa Focarelli; Cristina Gervasini; Donatella Milani; Silvia Russo; Paolo Vezzoni; Lidia Larizza
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Nature genetics 2006;38(5):528-30.
2006: Angela Bentivegna; Donatella Milani; Cristina Gervasini; Paola Castronovo; Federica Mottadelli; Stefano Manzini; Patrizia Colapietro; Lucio Giordano; Francesca Atzeri; Maria T Divizia; Maria L Giovannucci Uzielli; Giovanni Neri; Maria Francesca Bedeschi; Francesca Faravelli; Angelo Selicorni; Lidia Larizza
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
BMC medical genetics 2006;7():77.
2005: Donatella Milani; Chiara Pantaleoni; Stefano D'Arrigo; Angelo Selicorni; Daria Riva
Another patient with MECP2 mutation without classic Rett syndrome phenotype.
Pediatric neurology 2005;32(5):355-7.
2005: Massimiliano Cecconi; Francesca Forzano; Donatella Milani; Simona Cavani; Chiara Baldo; Angelo Selicorni; Chiara Pantaleoni; Margherita Silengo; Giovanni Battista Ferrero; Gioacchino Scarano; Matteo Della Monica; Rita Fischetto; Paola Grammatico; Silvia Majore; Giuseppe Zampino; Luigi Memo; Emanuela Lucci Cordisco; Giovanni Neri; Mauro Pierluigi; Franca Dagna Bricarelli; M Grasso; Francesca Faravelli
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
American journal of medical genetics. Part A 2005;134(3):247-53.
2005: Angelo Selicorni; Cinzia Sforzini; Donatella Milani; Giacomo Cagnoli; Emilio Fossali; Mario G Bianchetti
Anomalies of the kidney and urinary tract are common in de Lange syndrome.
American journal of medical genetics. Part A 2005;132(4):395-7.
2005: Angelo Selicorni; Alessandra Ferrarini; Giacomo Cagnoli; Alessia Fratoni; Michaela Bottigelli; Donatella Milani
Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.
American journal of medical genetics. Part A 2005;132A(2):189-90.
2004: Marcella Zollino; Rosetta Lecce; Angelo Selicorni; Marina Murdolo; Irene Mancuso; Giuseppe Marangi; Giuseppe Zampino; Livia Garavelli; Alessandra Ferrarini; Mariano Rocchi; John M Opitz; Giovanni Neri
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.
European journal of human genetics : EJHG 2004;12(10):797-804.
2004: Alessandra Ferrarini; Donatella Milani; Michaela Bottigelli; Giacomo Cagnoli; Angelo Selicorni
Two new cases of Barraquer-Simons syndrome.
American journal of medical genetics. Part A 2004;126A(4):427-9.
2003: Silvia Russo; Monica Mencarelli; Florinda Cavalleri; Angelo Selicorni; Francesca Cogliati; Lidia Larizza
A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith-Wiedemann syndrome.
Molecular and cellular probes 2003;17(6):295-9.
2003: Chiara Gagliardi; Maria Clara Bonaglia; Angelo Selicorni; Renato Borgatti; Roberto Giorda
Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.
Journal of medical genetics 2003;40(7):526-30.
2003: Sergio Luzzani; Francesco Macchini; Alberto Valadè; Donatella Milani; Angelo Selicorni
Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms.
American journal of medical genetics. Part A 2003;119A(3):283-7.
2003: Francesca Faravelli; Stefano D'Arrigo; Irene Bagnasco; Angelo Selicorni; Ludovico D'Incerti; Daria Riva; Chiara Pantaleoni
Oligoyric microcephaly in a child with Williams syndrome.
American journal of medical genetics. Part A 2003;117A(2):169-71.
2003: Marcella Zollino; Rosetta Lecce; Rita Fischetto; Marina Murdolo; Francesca Faravelli; Angelo Selicorni; Cinzia Buttè; Luigi Memo; Giuseppe Capovilla; Giovanni Neri
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
American journal of human genetics 2003;72(3):590-7.
2002: Cinzia Sforzini; Donatella Milani; Emilio Fossali; Anna Barbato; Gianpaolo Grumieri; Mario G Bianchetti; Angelo Selicorni
Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome.
Pediatric nephrology (Berlin, Germany) 2002;17(11):899-902.
2002: Donatella Milani; Angelo Selicorni
Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum?
Prenatal diagnosis 2002;22(11):1053-4; author reply 1054-5.
2002: Sabrina Giglio; Vladimiro Calvari; Giuliana Gregato; Giorgio Gimelli; Silvia Camanini; Roberto Giorda; Angela Ragusa; Silvana Guerneri; Angelo Selicorni; Marcus Stumm; Holger Tonnies; Mario Ventura; Marcella Zollino; Giovanni Neri; John Barber; Dagmar Wieczorek; Mariano Rocchi; Orsetta Zuffardi
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
American journal of human genetics 2002;71(2):276-85.
2002: Angelo Selicorni; Silvana Guerneri; Antonia Ratti; Antonio Pizzuti
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
Human genetics 2002;110(1):64-7.
2001: Maria Clara Bonaglia; Roberto Giorda; Renato Borgatti; G Felisari; Chiara Gagliardi; Angelo Selicorni; Orsetta Zuffardi
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
American journal of human genetics 2001;69(2):261-8.
2001: Maurizio Di Cicco; Rita Padoan; Giovanni Felisati; D Dilani; E Moretti; Silvana Guerneri; Angelo Selicorni
Otorhinolaringologic manifestation of Smith-Magenis syndrome.
International journal of pediatric otorhinolaryngology 2001;59(2):147-50.
2001: Angelo Selicorni; C Colombo; S Bonato; Donatella Milani; A M Giunta; Maria Francesca Bedeschi
Biliary atresia and Kabuki syndrome: another case with long-term follow-up.
American journal of medical genetics 2001;100(3):251.
2001: Francesca Faravelli; Maja Di Rocco; G Stella; Angelo Selicorni; G Camera
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings.
Clinical dysmorphology 2001;10(2):101-3.
2000: Angelo Selicorni; Francesca Faravelli
Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype.
American journal of medical genetics 2000;95(3):291.
2000: Isabella Moroni; F Bedeschi; R Luksch; M Casanova; Ludovico D'Incerti; Graziella Uziel; Angelo Selicorni
Costello syndrome: a cancer predisposing syndrome?
Clinical dysmorphology 2000;9(4):265-8.
2000: Marcella Zollino; C Di Stefano; Giuseppe Zampino; Pierpaolo Mastroiacovo; TJ Wright; Giovanni Sorge; Angelo Selicorni; Romano Tenconi; A Zappalà; A Battaglia; Maja Di Rocco; G Palka; R Pallotta; Michael R Altherr; Giovanni Neri
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
American journal of medical genetics 2000;94(3):254-61.
2000: Silvia Russo; Maria Francesca Bedeschi; Francesca Cogliati; Federica Natacci; A Gianotti; Rossella Parini; Angelo Selicorni; Lidia Larizza
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression.
Clinical dysmorphology 2000;9(3):157-62.
2000: Silvia Russo; Francesca Cogliati; Maurizio Viri; Florinda Cavalleri; Angelo Selicorni; Licia Turolla; S Belli; Antonino Romeo; Lidia Larizza
Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome.
Human mutation 2000;15(4):387.
2000: Orazio Gabrielli; Ines Carloni; Giovanni V Coppa; Maria Francesca Bedeschi; M M Petroncini; Angelo Selicorni
Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency.
Minerva pediatrica 2000;52(1-2):47-53.
1998: Silvia Russo; Angelo Selicorni; Maria Francesca Bedeschi; Federica Natacci; P Viziello; R Fortuna; G Pagani; Leda Dalprà; Lidia Larizza
Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.
American journal of medical genetics 1998;75(3):304-8.
1997: Rossella Parini; V Briscioli; Ubaldo Caruso; C Dorche; R Fortuna; Giuseppe Minniti; Angelo Selicorni; E Vismara; G Mancini
Spherophakia associated with molybdenum cofactor deficiency.
American journal of medical genetics 1997;73(3):272-5.
1997: Pierangela Castorina; Angelo Selicorni; F Bedeschi; Leda Dalprà; Lidia Larizza
Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.
American journal of medical genetics 1997;69(1):107-11.
1996: Piergiorgio Franceschini; Andrea Guala; M P Vardeu; F Signorile; Daniele Franceschini; P Mastroiacovo; A Gianotti; E Livini; Faustina Lalatta; Angelo Selicorni; generoso andria; G Scarano; M Della Monica; R Rizzo; Leopoldo Zelante; M Stabile; O Gabrielli; Giovanni Neri
The Williams syndrome: an Italian collaborative study.
Minerva pediatrica 1996;48(10):421-8.
1996: S Manoukian; Faustina Lalatta; Angelo Selicorni; Gianluca Tadini; Roberta Cavalli; Giovanni Neri
Cardio-facio-cutaneous (CFC) syndrome: report of an adult without mental retardation.
American journal of medical genetics 1996;63(2):382-5.
1995: F Viani; Antonino Romeo; M Viri; M Mastrangelo; Faustina Lalatta; Angelo Selicorni; G Gobbi; Giovanni Lanzi; Daniela Bettio; V Briscioli
Seizure and EEG patterns in Angelman's syndrome.
Journal of child neurology 1995;10(6):467-71.
1995: V Briscioli; S Manoukian; Angelo Selicorni; E Livini; Faustina Lalatta
Kaufman oculocerebrofacial syndrome in a girl of 15 years.
American journal of medical genetics 1995;58(1):21-3.
1995: Daniela Bettio; Nicoletta Rizzi; Daniela Giardino; Graziano Grugni; V Briscioli; Angelo Selicorni; F Carnevale; Lidia Larizza
FISH analysis in Prader-Willi and Angelman syndrome patients.
American journal of medical genetics 1995;56(2):224-8.
1993: Alberto Turco; B Peissel; S Rossetti; Angelo Selicorni; S Manoukian; A Brusasco; Gianluca Tadini; Andrea Galimberti; Beatrice Tassis; L Turolla
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.
American journal of medical genetics 1993;47(8):1225-30.
1993: Angelo Selicorni; Faustina Lalatta; E Livini; V Briscioli; T Piguzzi; D C Bagozzi; Pierpaolo Mastroiacovo; G Zampino; G Gaeta; A Pugliese
Variability of the Brachmann-de Lange syndrome.
American journal of medical genetics 1993;47(7):977-82.
1993: C Zoppini; Angelo Vanzulli; Alessandra Kustermann; T Rizzuti; Angelo Selicorni; Umberto Nicolini
Prenatal diagnosis of anatomical connections in conjoined twins by use of contrast magnetic resonance imaging.
Prenatal diagnosis 1993;13(10):995-9.
1993: V Briscioli; Giovanna Floridia; E Rossi; Angelo Selicorni; Faustina Lalatta; Orsetta Zuffardi
Trisomy 10qter confirmed by in situ hybridisation.
Journal of medical genetics 1993;30(7):601-3.
1993: Faustina Lalatta; Angelo Selicorni; V Briscioli
[Syndromes in outpatient experience].
La Pediatria medica e chirurgica : Medical and surgical pediatrics 1993;15 Suppl 1():60-3.
1992: Pierpaolo Mastroiacovo; Lorenzo D Botto; D P Cavalcanti; Faustina Lalatta; Angelo Selicorni; Alberto Tozzi; D Baronciani; A C Cigolotti; S Giordano; F Petroni
Limb anomalies following chorionic villus sampling: a registry based case-control study.
American journal of medical genetics 1992;44(6):856-64.
1991: Faustina Lalatta; E Livini; Angelo Selicorni; V Briscioli; A Vita; F Lugo; M Zollino; F Gurrieri; Giovanni Neri
X-linked mental retardation with marfanoid habitus: first report of four Italian patients.
American journal of medical genetics 1991;38(2-3):228-32.