Publications by authors named "Pierre Boisseau"

33Publications

Identification of new F8 deep intronic variations in patients with haemophilia A.

Haemophilia 2020 Aug 18. Epub 2020 Aug 18.

Service d'Hématologie Biologique, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, France.

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http://dx.doi.org/10.1111/hae.14134DOI Listing
August 2020

Updated overview on von Willebrand disease: focus on the interest of genotyping.

Expert Rev Hematol 2019 12 6;12(12):1023-1036. Epub 2019 Oct 6.

Service d'Hématologie biologique Hôpital Lariboisière and EA-3518 Institut de Recherche Saint Louis, Assistance Publique-Hôpitaux de Paris, Université Paris Diderot, Paris, France.

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http://dx.doi.org/10.1080/17474086.2019.1670638DOI Listing
December 2019

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review.

J Stroke Cerebrovasc Dis 2019 Jun 28;28(6):1537-1539. Epub 2019 Mar 28.

Department of Neurology, Bicêtre Hospital, AP-HP, University Paris Sud Saclay, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2019.03.011DOI Listing
June 2019

A new case of heterozygous variant of the GP1BB gene responsible for macrothrombocytopenia.

Br J Haematol 2019 07 4;186(1):157-159. Epub 2019 Jan 4.

Centre de Traitement de l'Hémophilie, CHU de Nantes - Hôtel Dieu, Nantes, Cedex 1, France.

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http://doi.wiley.com/10.1111/bjh.15739
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http://dx.doi.org/10.1111/bjh.15739DOI Listing
July 2019

ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.

Thromb Haemost 2018 Nov 12;118(11):1902-1917. Epub 2018 Oct 12.

Institut Universitaire d'Hématologie, Université Paris Diderot, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1673686
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http://dx.doi.org/10.1055/s-0038-1673686DOI Listing
November 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.

Platelets 2017 Dec 24;28(8):825-828. Epub 2017 Apr 24.

a Hemophilia Comprehensive Care Center, Hôpital Cardiologique, Hospices Civils de Lyon , Lyon , France.

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http://dx.doi.org/10.1080/09537104.2017.1293811DOI Listing
December 2017

A new mutation of ANO6 in two familial cases of Scott syndrome.

Br J Haematol 2018 03 23;180(5):750-752. Epub 2016 Nov 23.

Service d'Hématologie biologique, CHU de Nantes, Nantes, France.

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http://dx.doi.org/10.1111/bjh.14439DOI Listing
March 2018

Epidemiology and pathophysiology of adulthood-onset thrombotic microangiopathy with severe ADAMTS13 deficiency (thrombotic thrombocytopenic purpura): a cross-sectional analysis of the French national registry for thrombotic microangiopathy.

Lancet Haematol 2016 May 16;3(5):e237-45. Epub 2016 Apr 16.

Service d'Hématologie biologique, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris and EA3518, Institut Universitaire d'Hématologie-Hôpital Saint Louis, Université Paris Diderot, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/S2352-3026(16)30018-7DOI Listing
May 2016

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Medicine (Baltimore) 2016 Mar;95(11):e3038

From the Service d'Hématologie biologique (AV, NI-B), Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Université Paris 7, Paris; Service de Génétique médicale (PB, MG, SB), Hôpital Hôtel-Dieu, CHU de Nantes, Nantes; Inserm UMR_S1176 (EF, CVD), Université Paris-Sud, Le Kremlin Bicêtre; Service d'Hématologie biologique (CC, CZ, SS, JG), Hôpital cardiologique, CHRU de Lille, Lille; Service d'Hématologie biologique (CT, MT), Hôpital Hôtel-Dieu, CHU de Nantes, Nantes; Service d'Hématologie biologique et Centre Régional de Traitement de l'Hémophilie (MD, RD), Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris-Sud, Le Kremlin-Bicêtre; and Service d'Hématologie biologique (AB-D), Hôpital de la Côte de Nacre, CHU de Caen, Caen, France.

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http://dx.doi.org/10.1097/MD.0000000000003038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839904PMC
March 2016

De novo duplication and deletions at 7q in a three-generation family.

Am J Med Genet A 2012 Jun 10;158A(6):1493-7. Epub 2012 May 10.

CHU de Nantes, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.35332DOI Listing
June 2012

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.

Eur J Med Genet 2008 Nov-Dec;51(6):679-84. Epub 2008 Jul 11.

Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.06.004DOI Listing
March 2009

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

Eur J Med Genet 2008 May-Jun;51(3):231-8. Epub 2008 Jan 12.

Medical Genetic Department, Nantes University Hospital, Nantes, France.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.010DOI Listing
August 2008

Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.

J Cardiovasc Electrophysiol 2006 Jan;17(1):97-100

Department of Cardiology and Unité INSERM U533, Institut du thorax, CHU de Nantes, Nantes, France.

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http://dx.doi.org/10.1111/j.1540-8167.2005.00329.xDOI Listing
January 2006

A common antitussive drug, clobutinol, precipitates the long QT syndrome 2.

Mol Pharmacol 2004 Nov 27;66(5):1093-102. Epub 2004 Jul 27.

l'Institut du thorax, Institut National de la Sante et de la Recherche Medicale U533, Nantes, France.

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http://dx.doi.org/10.1124/mol.104.001065DOI Listing
November 2004