Publications by authors named "Emilio Donti"

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Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1.
Rita Romani, Irene Pirisinu, Mario Calvitti, Maria Teresa Pallotta, Marco Gargaro, Emilio Donti

J Cell Mol Med· July 2015

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Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.
Mari J Tokita, Penny M Chow, Ghayda Mirzaa, Nicola Dikow, Bianca Maas, Emilio Donti

Eur J Hum Genet· June 2015

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Comparative proteomic analysis of two distinct stem-cell populations from human amniotic fluid.
Rita Romani, Francesca Fallarino, Irene Pirisinu, Mario Calvitti, Anna Caselli, Emilio Donti

Mol Biosyst· June 2015

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7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
Antonio Adamo, Sina Atashpaz, Pierre-Luc Germain, Matteo Zanella, Giuseppe D'Agostino, Emilio Donti

Nat Genet· February 2015

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Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
Paolo Prontera, Valentina Ottaviani, Daniela Toccaceli, Daniela Rogaia, Carmen Ardisia, Emilio Donti

Am J Med Genet A· December 2014

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Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.
Paolo Prontera, Domenico Serino, Bernardo Caldini, Laura Scarponi, Giuseppe Merla, Emilio Donti

J Autism Dev Disord· October 2014

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DPP6 gene disruption in a family with Gilles de la Tourette syndrome.
Paolo Prontera, Valerio Napolioni, Valentina Ottaviani, Daniela Rogaia, Carmela Fusco, Emilio Donti

Neurogenetics· October 2014

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Hypothesis: gonadal temperature influences sex-specific imprinting.
Paolo Prontera, Emilio Donti

Front Genet· September 2014

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Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.
Nicola Tambasco, Vincenzo Belcastro, Paolo Prontera, Pasquale Nigro, Emilio Donti

Eur J Paediatr Neurol· July 2014

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A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
Cinzia Costa, Paolo Prontera, Paola Sarchielli, Alessandra Tonelli, Maria Teresa Bassi, Emilio Donti

Cephalalgia· January 2014

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Xq12-q13.3 duplication: evidence of a recurrent syndrome.
Paolo Prontera, Valentina Ottaviani, Ilenia Isidori, Gabriela Stangoni, Emilio Donti

Ann Neurol· November 2012

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Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
Judith Allanson, Amanda Smith, Heather Hare, Beate Albrecht, Emilia Bijlsma, Emilio Donti

Am J Med Genet A· September 2012

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Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.
Paolo Prontera, Riccardo Urciuoli, Sabrina Siliquini, Sara Macone, Gabriela Stangoni, Emilio Donti

Am J Med Genet A· December 2011

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Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Paolo Prontera, Emanuela Garelli, Ilenia Isidori, Amedea Mencarelli, Adriana Carando, Emilio Donti

Am J Med Genet A· November 2011

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Deletion 2p15-16.1 syndrome: case report and review.
Paolo Prontera, Laura Bernardini, Gabriela Stangoni, Anna Capalbo, Daniela Rogaia, Emilio Donti

Am J Med Genet A· October 2011

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Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.
Paolo Prontera, Daniela Rogaia, Cristina Sobacchi, Vanessa Luiza Romanelli Tavares, Giovanni Mazzotta, Emilio Donti

Am J Med Genet A· May 2011

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Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.
Paolo Prontera, Gabriela Stangoni, Carmela Ardisia, Daniela Rogaia, Amedea Mencarelli, Emilio Donti

Am J Med Genet A· April 2011

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Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.
Paolo Prontera, Francesca Pantaleoni, Simone Martinelli, Elena Mastrodicasa, Gabriela Stangoni, Emilio Donti

Leuk Res· March 2011

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Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis.
Massimiliano Di Filippo, Elisa Luchetti, Paolo Prontera, Emilio Donti, Piero Floridi

J Neurol· February 2011

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FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.
Simona Cavani, Paolo Prontera, Marina Grasso, Carmela Ardisia, Michela Malacarne, Emilio Donti

Am J Med Genet A· January 2011

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Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case report.
Alessandro Affronti, Isidoro Di Bella, Paolo Prontera, Uberto Da Col, Enrico Ramoni, Emilio Donti

J Card Surg· November 2010

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Chromosome abnormalities additional to the Philadelphia chromosome at the diagnosis of chronic myelogenous leukemia: pathogenetic and prognostic implications.
Alfonso Zaccaria, Nicoletta Testoni, Anna Maria Valenti, Simona Luatti, Michela Tonelli, Emilio Donti

Cancer Genet Cytogenet· June 2010

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Sustained molecular remissions are achievable with tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia and additional cytogenetic clonal evolution.
Lorenzo Falchi, Giovanna Rege-Cambrin, Carmen Fava, Emilio Donti, Debora Luzi

Cancer Genet Cytogenet· June 2010

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Myostatin depletion: a therapy for Ehlers-Danlos syndrome?
Paolo Prontera, Vincenzo Belcastro, Paolo Calabresi, Emilio Donti

Ann Neurol· January 2010

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2q31.2q32.3 deletion syndrome: report of an adult patient.
Paolo Prontera, Laura Bernardini, Gabriela Stangoni, Anna Capalbo, Daniela Rogaia, Emilio Donti

Am J Med Genet A· February 2009

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