Publications by authors named "Frederic Bilan"

34Publications

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Am J Med Genet A 2020 Jul 6. Epub 2020 Jul 6.

Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1002/ajmg.a.61734DOI Listing
July 2020

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Eur J Hum Genet 2020 Jun 31;28(6):770-782. Epub 2020 Jan 31.

Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France.

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http://dx.doi.org/10.1038/s41431-020-0571-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253452PMC
June 2020

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.

Eur J Hum Genet 2019 11 9;27(11):1683-1691. Epub 2019 Jul 9.

Neurovascular Unit and Cognitive Disorders (EA-3808 NEUVACOD), Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.1038/s41431-019-0465-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871090PMC
November 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

Eur J Med Genet 2016 Sep 21;59(9):483-7. Epub 2016 Jul 21.

Service de Génétique, Centre de Référence Anomalies du Développement Ouest, CHU de Poitiers, France; EA 3808, Université de Poitiers, France.

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http://dx.doi.org/10.1016/j.ejmg.2016.07.001DOI Listing
September 2016

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.

Orphanet J Rare Dis 2016 07 22;11(1):101. Epub 2016 Jul 22.

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Bâtiment Jean Dausset, 3ème étage, 27 rue du Faubourg Saint Jacques, Paris, France.

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http://dx.doi.org/10.1186/s13023-016-0479-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4957908PMC
July 2016

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.

Prenat Diagn 2016 Jun 12;36(6):561-7. Epub 2016 May 12.

Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.

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http://dx.doi.org/10.1002/pd.4825DOI Listing
June 2016

A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

Neuro Oncol 2014 Jan 18;16(2):250-5. Epub 2013 Dec 18.

Corresponding author: Ilyess Zemmoura, MD, Service de Neurochirurgie, CHRU Bretonneau, 2 boulevard Tonnellé, 37004, Tours Cedex, France.

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http://dx.doi.org/10.1093/neuonc/not165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895380PMC
January 2014

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.

Am J Med Genet A 2013 Oct 15;161A(10):2504-11. Epub 2013 Aug 15.

Service de Génétique, Centre Hospitalier Universitaire, Poitiers, France; Equipe de Génétique de Maladies Rares, Université de Poitiers, France.

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http://dx.doi.org/10.1002/ajmg.a.36122DOI Listing
October 2013

Structural pituitary abnormalities associated with CHARGE syndrome.

J Clin Endocrinol Metab 2013 Apr 22;98(4):E737-43. Epub 2013 Mar 22.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2012-3467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708033PMC
April 2013

Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.

J Mol Diagn 2009 Sep;11(5):488-93

Institut de Physiologie et Biologie Cellulaires, Centre National de la Recherche Scientifique Unité Mixte de Recherche 6187, Université de Poitiers, Poitiers, France.

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http://dx.doi.org/10.2353/jmoldx.2009.090005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729848PMC
September 2009

Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells.

Exp Cell Res 2008 Jul 4;314(11-12):2199-211. Epub 2008 May 4.

Institut de Physiologie et de Biologie Cellulaires, CNRS UMR6187, Université de Poitiers, France; CHU de Poitiers, BP577, 86021 Poitiers cedex, France.

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http://linkinghub.elsevier.com/retrieve/pii/S001448270800174
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http://dx.doi.org/10.1016/j.yexcr.2008.04.012DOI Listing
July 2008

Proteasome-dependent pharmacological rescue of cystic fibrosis transmembrane conductance regulator revealed by mutation of glycine 622.

J Pharmacol Exp Ther 2008 Apr 29;325(1):89-99. Epub 2008 Jan 29.

Institut de Physiologie et Biologie Cellulaires, Université de Poitiers, Centre National de la Recherche Scientifique, 86022 Poitiers, France.

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http://jpet.aspetjournals.org/cgi/doi/10.1124/jpet.107.13450
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http://dx.doi.org/10.1124/jpet.107.134502DOI Listing
April 2008

The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein.

Biochem Pharmacol 2004 Jun;67(12):2187-96

Institut de Physiologie et Biologie Cellulaires CNRS UMR 6187, Université de Poitiers, 40 Avenue du Recteur Pineau, 86022 Poitiers, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000629520400127
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http://dx.doi.org/10.1016/j.bcp.2004.02.022DOI Listing
June 2004

Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity.

J Cell Sci 2004 Apr 23;117(Pt 10):1923-35. Epub 2004 Mar 23.

Laboratoire de Génétique Cellulaire et Moléculaire, UPRES EA 2622, CHU de Poitiers, BP 577, 86021 Poitiers CEDEX, France.

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http://dx.doi.org/10.1242/jcs.01070DOI Listing
April 2004