A
Angelo Selicorni
Researcher at University of Milano-Bicocca
Publications - 149
Citations - 5531
Angelo Selicorni is an academic researcher from University of Milano-Bicocca. The author has contributed to research in topics: Cornelia de Lange Syndrome & Medicine. The author has an hindex of 36, co-authored 119 publications receiving 4994 citations. Previous affiliations of Angelo Selicorni include Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico & University of Milan.
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Journal ArticleDOI
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
Antonio Musio,Angelo Selicorni,Maria Luisa Focarelli,Cristina Gervasini,Donatella Milani,Silvia Russo,Paolo Vezzoni,Lidia Larizza +7 more
TL;DR: It is reported here that mutations in SMC1L1 (also known asSMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
Journal ArticleDOI
Identification of the gene for oral-facial-digital type I syndrome.
Maria Immacolata Ferrante,Sally Feather,Alessandro Bulfone,Victoria Wright,Michela Ghiani,Angelo Selicorni,Linda Gammaro,Francesco Scolari,Adrian S. Woolf,Odent Sylvie,Le Marec Bernard,Sue Malcolm,Robin M. Winter,Andrea Ballabio,Giovanna Giorgio,Brunella Franco +15 more
TL;DR: RNA in situ studies on mouse embryo tissue sections show that Ofd1 is developmentally regulated and is expressed in all tissues affected in OFD1 syndrome, demonstrating an important role of this gene in human development.
Journal ArticleDOI
Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
Mitsuhiro Kato,Soma Das,Kristin Petras,Kunio Kitamura,Ken Ichirou Morohashi,Diane Abuelo,Mason Barr,Dominique Bonneau,Angela F. Brady,Nancy J. Carpenter,Karen L. Cipero,Francesco Frisone,Takayuki Fukuda,Renzo Guerrini,Eri Iida,Masayuki Itoh,Amy Feldman Lewanda,Yukiko Nanba,Akira Oka,Virginia K. Proud,Pascale Saugier-Veber,Susan Schelley,Angelo Selicorni,Rachel Shaner,Margherita Silengo,Fiona Stewart,Noriyuki Sugiyama,Jun Toyama,Annick Toutain,Ana Lía Vargas,Masako Yanazawa,Elaine H. Zackai,William B. Dobyns +32 more
TL;DR: The group of phenotypes associated with ARX mutations demonstrates remarkable pleiotropy, but also comprises a nearly continuous series of developmental disorders that begins with hydranencephaly, lissencephally, and agenesis of the corpus callosum, and ends with a series of overlapping syndromes with apparently normal brain structure.
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Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Katrina Tatton-Brown,Sheila Seal,Elise Ruark,Jenny E. Harmer,Emma Ramsay,Silvana Del Vecchio Duarte,Anna Zachariou,Sandra Hanks,Eleanor M. O’Brien,Lise Aksglaede,Diana Baralle,Tabib Dabir,Blanca Gener,David Goudie,Tessa Homfray,Ajith Kumar,Daniela T. Pilz,Angelo Selicorni,I. Karen Temple,Lionel Van Maldergem,Naomi Yachelevich,Rob L. M. van Montfort,Nazneen Rahman +22 more
TL;DR: DNMT3A encodes a DNA methyltransferase essential for establishing methylation during embryogenesis and is commonly somatically mutated in acute myeloid leukemia, and joins an emerging group of epigenetic DNA- and histone-modifying genes associated with both developmental growth disorders and hematological malignancies.
Journal ArticleDOI
Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance
Antonie D. Kline,Ian D. Krantz,Annemarie Sommer,Mark A. Kliewer,Laird G. Jackson,Laird G. Jackson,David R. FitzPatrick,Alex V. Levin,Angelo Selicorni +8 more
TL;DR: A clinical overview and recommendations for anticipatory guidance are timely in aiding caretakers and professionals to individualize care decisions and maximize developmental potential for individuals with CdLS.