Publications by authors named "Antonio Vitobello"

41Publications

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 Jul 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2020.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332645PMC
July 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

J Med Genet 2020 Jul 10;57(7):466-474. Epub 2020 Apr 10.

INSERM, U1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR Lipides, Nutrition, Dijon, France

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http://dx.doi.org/10.1136/jmedgenet-2019-106425DOI Listing
July 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

Am J Med Genet A 2020 04 18;182(4):792-797. Epub 2020 Jan 18.

UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.61487DOI Listing
April 2020

Constitutive androstane receptor 1 is constitutively bound to chromatin and 'primed' for transactivation in hepatocytes.

Mol Pharmacol 2019 01 25;95(1):97-105. Epub 2018 Oct 25.

School of Medicine, Jacqui Wood Cancer Centre, Ninewells Hospital and Medical School, University of Dundee, Dundee, United Kingdom (M.M., S.D., L.A.J., C.J.H., C.R.W.) and Preclinical Safety, Translational Medicine, Novartis Institutes for BioMedical Research, Basel, Switzerland (R.T., M.-A.G., A.V., J.M.)

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http://dx.doi.org/10.1124/mol.118.113555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277922PMC
January 2019

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Eur J Med Genet 2017 Nov 12;60(11):595-604. Epub 2017 Aug 12.

Equipe Génétique des Anomalies du Développement, INSERM UMR1231, Université de Bourgogne-Franche Comté, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173019
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http://dx.doi.org/10.1016/j.ejmg.2017.08.011DOI Listing
November 2017

Gene bivalency at Polycomb domains regulates cranial neural crest positional identity.

Science 2017 03;355(6332)

Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, 4051 Basel, Switzerland.

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http://dx.doi.org/10.1126/science.aal2913DOI Listing
March 2017

MicroRNA-196b is transcribed from an autonomous promoter and is directly regulated by Cdx2 and by posterior Hox proteins during embryogenesis.

Biochim Biophys Acta 2015 Aug 2;1849(8):1066-80. Epub 2015 Jul 2.

Department of Life Sciences, University of Modena and Reggio Emilia, Via G. Campi 213/d, Modena 41125, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2015.06.014DOI Listing
August 2015

Human teneurin-1 is a direct target of the homeobox transcription factor EMX2 at a novel alternate promoter.

BMC Dev Biol 2011 Jun 8;11:35. Epub 2011 Jun 8.

Friedrich Miescher Institute for Biomedical Research, Novartis Research Foundation, Basel, Switzerland.

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http://dx.doi.org/10.1186/1471-213X-11-35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127987PMC
June 2011

Noggin elicits retinal fate in Xenopus animal cap embryonic stem cells.

Stem Cells 2009 Sep;27(9):2146-52

Dipartimento di Biologia, Università degli Studi di Pisa, Pisa, Italy.

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http://dx.doi.org/10.1002/stem.167DOI Listing
September 2009