Publications by authors named "Sebastien Schmitt"

42Publications

Pretargeted radioimmunotherapy and SPECT imaging of peritoneal carcinomatosis using bioorthogonal click chemistry: probe selection and first proof-of-concept.

Theranostics 2019 19;9(22):6706-6718. Epub 2019 Sep 19.

Université Clermont Auvergne, Imagerie Moléculaire et Stratégies Théranostiques, BP 184, F-63005 Clermont-Ferrand, France. Inserm, U 1240, F-63000 Clermont-Ferrand, France. Centre Jean Perrin, F-63011 Clermont-Ferrand, France.

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http://dx.doi.org/10.7150/thno.35461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771248PMC
October 2020

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

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

Mol Ther 2018 01 19;26(1):256-268. Epub 2017 Sep 19.

Ophthalmology Department, University Hospital Centre (CHU) de Nantes, Nantes, France; INSERM UMR 1089, University of Nantes, CHU de Nantes, Nantes France.

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http://dx.doi.org/10.1016/j.ymthe.2017.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763029PMC
January 2018

Synthesis and preliminary in vivo evaluation of new [F]fluoro-inositols as Positron Emission Tomography radiotracers.

Bioorg Med Chem 2017 10 22;25(20):5603-5612. Epub 2017 Aug 22.

Université de Lorraine, F-54506 Vandoeuvre-les-Nancy, France; CNRS, UMR 7565, F-54506 Vandoeuvre les Nancy, France. Electronic address:

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http://dx.doi.org/10.1016/j.bmc.2017.08.035DOI Listing
October 2017

N-[F]-FluoropropylJDTic for κ-opioid receptor PET imaging: Radiosynthesis, pre-clinical evaluation, and metabolic investigation in comparison with parent JDTic.

Nucl Med Biol 2017 01 26;44:50-61. Epub 2016 Sep 26.

Normandie Univ, UNICAEN, CEA, CNRS, UMR6301-ISTCT, LDM-TEP, Cyceron, Boulevard Henri Becquerel, 14000, Caen, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09698051163017
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http://dx.doi.org/10.1016/j.nucmedbio.2016.09.005DOI Listing
January 2017

Highlighting the impact of cascade carrier testing in cystic fibrosis families.

J Cyst Fibros 2016 07 22;15(4):452-9. Epub 2016 Mar 22.

Inserm, UMR 1078, Brest, France; Univ. Brest, Brest, France; Etablissement Français du Sang-Bretagne, Brest, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.02.013DOI Listing
July 2016

A Case of Syndromic X-linked Ichthyosis with Léri-Weill Dyschondrosteosis.

Acta Derm Venereol 2016 08;96(6):814-5

Department of Dermatology, University Hospital Brest, Brest, France.

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http://dx.doi.org/10.2340/00015555-2356DOI Listing
August 2016

Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

Eur J Hum Genet 2016 May 7;24(5). Epub 2015 Oct 7.

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

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http://dx.doi.org/10.1038/ejhg.2015.203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930100PMC
May 2016

Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica.

Acta Derm Venereol 2016 Mar;96(3):424-5

Department of Dermatology, Allergology and Venerology, University Clinics Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.2340/00015555-2240DOI Listing
March 2016

Clinical zinc deficiency as early presentation of Wilson disease.

J Pediatr Gastroenterol Nutr 2015 Apr;60(4):457-9

*Pediatric Gastroenterology and Hepatology Department †Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium ‡CHU Nantes, Service de Génétique Médicale, Nantes, Cedex 1 §Laboratoire LABCATAL, Montrouge, France.

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http://dx.doi.org/10.1097/MPG.0000000000000628DOI Listing
April 2015

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.

Pediatr Dermatol 2015 May-Jun;32(3):e124-5. Epub 2015 Mar 17.

Dermatology Department, Hospital Universitario "Dr. José Eleuterio González" UANL, Monterrey, Nuevo León, México.

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http://dx.doi.org/10.1111/pde.12555DOI Listing
April 2016

Novel fluoroalkyl derivatives of selective kappa opioid receptor antagonist JDTic: Design, synthesis, pharmacology and molecular modeling studies.

Eur J Med Chem 2015 Jan 11;90:742-50. Epub 2014 Dec 11.

CNRS, UMR 6301 ISTCT, LDM-TEP, GIP CYCERON, Boulevard Henri Becquerel, 14074 Caen, France; Université de Caen Basse-Normandie, Normandie Univ., France; CEA, DSV/I2BM, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02235234140112
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http://dx.doi.org/10.1016/j.ejmech.2014.12.016DOI Listing
January 2015

Constitutional telomeric association (Y;7) in a patient with a female phenotype.

Am J Med Genet A 2013 Jun 23;161A(6):1436-41. Epub 2013 Apr 23.

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

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http://dx.doi.org/10.1002/ajmg.a.35889DOI Listing
June 2013

Diastereoselective syntheses of (3R*,4R*)- and (3R*,4S*)-4-aryl-3-methyl-4-piperidinemethanol and fluoro analogues.

J Org Chem 2013 Feb 15;78(3):1222-9. Epub 2013 Jan 15.

CNRS, UMR 6301 ISTCT, LDM-TEP, GIP Cyceron, Boulevard Henri Becquerel, BP5229, F-14074 Caen Cedex, France.

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http://dx.doi.org/10.1021/jo302303hDOI Listing
February 2013

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Eur J Hum Genet 2012 Aug 18;20(8). Epub 2012 Apr 18.

CHU Nantes Hôtel-Dieu, Institut de Biologie, Service de Génétique Médicale, Laboratoire de Génétique Moléculaire, Nantes, France.

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http://www.nature.com/articles/ejhg201264
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http://dx.doi.org/10.1038/ejhg.2012.64DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400739PMC
August 2012

Clinical utility gene card for: acrodermatitis enteropathica.

Eur J Hum Genet 2012 Mar 14;20(3). Epub 2011 Dec 14.

CHU Nantes, Institut de Biologie, Laboratoire de génétique moléculaire, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1038/ejhg.2011.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283171PMC
March 2012

Sultone opening with [18F]fluoride: an efficient 18F-labelling strategy for PET imaging.

Chem Commun (Camb) 2011 Nov 26;47(41):11465-7. Epub 2011 Sep 26.

LDM-TEP, CEA/DSV/I2BM/CI-NAPS UMR6232, CNRS, Université de Caen Basse-Normandie, Cyceron, Boulevard Henri Becquerel, 14074 Caen cedex, France.

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http://dx.doi.org/10.1039/c1cc14435aDOI Listing
November 2011

Transient symptomatic zinc deficiency in a breast-fed infant: relevance of a genetic study.

Nutrition 2011 Oct;27(10):1087-9

Department of Dermatology, Hôpital Charles Nicolle, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.nut.2011.06.002DOI Listing
October 2011

Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset.

Pediatr Dermatol 2011 Nov-Dec;28(6):735-6. Epub 2011 Sep 9.

Dermatology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1111/j.1525-1470.2011.01487.xDOI Listing
March 2012

Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant.

J Dtsch Dermatol Ges 2011 Dec 15;9(12):999-1002. Epub 2011 Jul 15.

Department of Dermatology, Dessau Hospital, Dessau, Germany.

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http://dx.doi.org/10.1111/j.1610-0387.2011.07742.xDOI Listing
December 2011

Acrodermatitis enteropathica: a review of 29 Tunisian cases.

Int J Dermatol 2010 Sep;49(9):1038-44

Departement of Dermatology, Charles Nicolle Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1111/j.1365-4632.2010.04566.xDOI Listing
September 2010

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.

Hum Mutat 2009 Jun;30(6):926-33

Centre Hospitalier Universitaire (CHU) de Nantes, Pôle de Biologie, Service de Génétique Médicale, Nantes, France.

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http://doi.wiley.com/10.1002/humu.20988
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http://dx.doi.org/10.1002/humu.20988DOI Listing
June 2009

Comparison of inhibitory activity of isomeric triazolopyridine derivatives towards adenosine receptor subtypes or do similar structures reveal similar bioactivities?

Bioorg Med Chem Lett 2004 Jun;14(12):3307-12

F. Hoffmann-LaRoche Ltd, Pharmaceutical Research Basel, Discovery Chemistry, Lead Generation, CH-4070 Basel, Switzerland.

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http://dx.doi.org/10.1016/j.bmcl.2004.03.104DOI Listing
June 2004