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Characterization of zinc amino acid complexes for zinc delivery in vitro using Caco-2 cells and enterocytes from hiPSC.
Published in:
BioMetals, 2017, v. 30, n. 5, p. 643, doi. 10.1007/s10534-017-0033-y
By:
- Sauer, Ann;
- Pfaender, Stefanie;
- Hagmeyer, Simone;
- Tarana, Laura;
- Mattes, Ann-Kathrin;
- Briel, Franziska;
- Küry, Sébastien;
- Boeckers, Tobias;
- Grabrucker, Andreas
Publication type:
Article
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Published in:
2015
By:
- Mercier, Sandra;
- Küry, Sébastien;
- Salort-Campana, Emmanuelle;
- Magot, Armelle;
- Agbim, Uchenna;
- Besnard, Thomas;
- Bodak, Nathalie;
- Bou-Hanna, Chantal;
- Bréhéret, Flora;
- Brunelle, Perrine;
- Caillon, Florence;
- Chabrol, Brigitte;
- Cormier-Daire, Valérie;
- David, Albert;
- Eymard, Bruno;
- Faivre, Laurence;
- Figarella-Branger, Dominique;
- Fleurence, Emmanuelle;
- Ganapathi, Mythily;
- Gherardi, Romain
Publication type:
journal article
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226
By:
- Wojcik, Monica H.;
- Srivastava, Siddharth;
- Agrawal, Pankaj B.;
- Balci, Tugce B.;
- Callewaert, Bert;
- Calvo, Pier Luigi;
- Carli, Diana;
- Caudle, Michelle;
- Colaiacovo, Samantha;
- Cross, Laura;
- Demetriou, Kalliope;
- Drazba, Katy;
- Dutra‐Clarke, Marina;
- Edwards, Matthew;
- Genetti, Casie A.;
- Grange, Dorothy K.;
- Hickey, Scott E.;
- Isidor, Bertrand;
- Küry, Sébastien;
- Lachman, Herbert M.
Publication type:
Article
Protéasomopathies neurodéveloppementales : une nouvelle classe de maladies du neurodéveloppement causées par une dysfonction du protéasome.
Published in:
Médecine Sciences, 2024, v. 40, n. 2, p. 176, doi. 10.1051/medsci/2023221
By:
- Cuinat, Silvestre;
- Bézieau, Stéphane;
- Deb, Wallid;
- Mercier, Sandra;
- Vignard, Virginie;
- Toutain, Bérénice;
- Isidor, Bertrand;
- Küry, Sébastien;
- Ebstein, Frédéric
Publication type:
Article
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Published in:
Nature Genetics, 2012, v. 44, n. 2, p. 140, doi. 10.1038/ng.1056
By:
- Grall, Anaïs;
- Guaguère, Eric;
- Planchais, Sandrine;
- Grond, Susanne;
- Bourrat, Emmanuelle;
- Hausser, Ingrid;
- Hitte, Christophe;
- Le Gallo, Matthieu;
- Derbois, Céline;
- Kim, Gwang-Jin;
- Lagoutte, Laëtitia;
- Degorce-Rubiales, Frédérique;
- Radner, Franz P W;
- Thomas, Anne;
- Küry, Sébastien;
- Bensignor, Emmanuel;
- Fontaine, Jacques;
- Pin, Didier;
- Zimmermann, Robert;
- Zechner, Rudolf
Publication type:
Article
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.
Published in:
Nature Genetics, 2002, v. 31, n. 3, p. 239
By:
- Küry, Sébastien;
- Dréno, Brigitte;
- Bézieau, Stéphane;
- Giraudet, Stéphanie;
- Kharfi, Monia;
- Kamoun, Ridha;
- Moisan, Jean-Paul
Publication type:
Article
Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica.
Published in:
Human Genetics, 2001, v. 109, n. 2, p. 178, doi. 10.1007/s004390100539
By:
- Küry, Sébastien;
- Devilder, Marie-Claire;
- Avet-Loiseau, Hervé;
- Dreno, Brigitte;
- Moisan, Jean-Paul
Publication type:
Article
Sex hormones and risk of lung and colorectal cancers in women: a Mendelian randomization study.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-75305-4
By:
- Denos, Marion;
- Sun, Yi-Qian;
- Brumpton, Ben Michael;
- Li, Yafang;
- Albanes, Demetrius;
- Burnett-Hartman, Andrea;
- Campbell, Peter T.;
- Küry, Sébastien;
- Li, Christopher I.;
- White, Emily;
- Samadder, Jewel N.;
- Jenkins, Mark A.;
- Mai, Xiao-Mei
Publication type:
Article
Acrodermatitis enteropathica: a review of 29 Tunisian cases.
Published in:
International Journal of Dermatology, 2010, v. 49, n. 9, p. 1038, doi. 10.1111/j.1365-4632.2010.04566.x
By:
- Kharfi, Monia;
- El Fékih, Nadia;
- Aounallah-Skhiri, Hajer;
- Schmitt, Sébastien;
- Fazaa, Bécima;
- Küry, Sébastien;
- Kamoun, Mohamed Ridha
Publication type:
Article
Clinical utility gene card for: Biotinidase deficiency.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2012.28
By:
- Küry, Sébastien;
- Ramaekers, Vincent;
- Bézieau, Stéphane;
- Wolf, Barry
Publication type:
Article
Clinical utility gene card for: acrodermatitis enteropathica.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.227
By:
- Küry, Sébastien;
- Kharfi, Monia;
- Schmitt, Sébastien;
- Bézieau, Stéphane
Publication type:
Article
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1165, doi. 10.1038/ejhg.2009.28
By:
- Le Caignec, Cédric;
- Kwiatkowski, David J.;
- Küry, Sébastien;
- Hardouin, Jean-Benoit;
- Melki, Judith;
- David, Albert
Publication type:
Article
Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study.
Published in:
BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-022-02702-9
By:
- Papadimitriou, Nikos;
- Bull, Caroline J.;
- Jenab, Mazda;
- Hughes, David J.;
- Bell, Joshua A.;
- Sanderson, Eleanor;
- Timpson, Nicholas J.;
- Smith, George Davey;
- Albanes, Demetrius;
- Campbell, Peter T.;
- Küry, Sébastien;
- Le Marchand, Loic;
- Ulrich, Cornelia M.;
- Visvanathan, Kala;
- Figueiredo, Jane C.;
- Newcomb, Polly A.;
- Pai, Rish K.;
- Peters, Ulrike;
- Tsilidis, Kostas K.;
- Boer, Jolanda M. A.
Publication type:
Article
Separating the effects of early and later life adiposity on colorectal cancer risk: a Mendelian randomization study.
Published in:
BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-022-02702-9
By:
- Papadimitriou, Nikos;
- Bull, Caroline J.;
- Jenab, Mazda;
- Hughes, David J.;
- Bell, Joshua A.;
- Sanderson, Eleanor;
- Timpson, Nicholas J.;
- Smith, George Davey;
- Albanes, Demetrius;
- Campbell, Peter T.;
- Küry, Sébastien;
- Le Marchand, Loic;
- Ulrich, Cornelia M.;
- Visvanathan, Kala;
- Figueiredo, Jane C.;
- Newcomb, Polly A.;
- Pai, Rish K.;
- Peters, Ulrike;
- Tsilidis, Kostas K.;
- Boer, Jolanda M. A.
Publication type:
Article
Acrodermatitis enteropathica: eine seltene dermatologische Differenzialdiagnose im Kindesalter - Erstbeschreibung zweier neuer Sequenzvarianten.
Published in:
Journal der Deutschen Dermatologischen Gesellschaft, 2011, v. 9, n. 12, p. 999, doi. 10.1111/j.1610-0387.2011.07742_suppl.x
By:
- Jung, Anja G.;
- Mathony, Uwe A.;
- Behre, Beate;
- Küry, Sébastien;
- Schmitt, Sébastien;
- Zouboulis, Christos C.;
- Lippert, Undine
Publication type:
Article
Acrodermatitis enteropathica: an uncommon differential diagnosis in childhood - first description of a new sequence variant.
Published in:
Journal der Deutschen Dermatologischen Gesellschaft, 2011, v. 9, n. 12, p. 999, doi. 10.1111/j.1610-0387.2011.07742.x
By:
- Jung, Anja G.;
- Mathony, Uwe A.;
- Behre, Beate;
- Küry, Sébastien;
- Schmitt, Sébastien;
- Zouboulis, Christos C.;
- Lippert, Undine
Publication type:
Article
Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?
Published in:
Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1370905
By:
- Vignard, Virginie;
- Baruteau, Alban-Elouen;
- Toutain, Bérénice;
- Mercier, Sandra;
- Isidor, Bertrand;
- Redon, Richard;
- Schott, Jean-Jacques;
- Küry, Sébastien;
- Bézieau, Stéphane;
- Monsoro-Burq, Anne H.;
- Ebstein, Frédéric
Publication type:
Article
Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.
Published in:
Pediatric Dermatology, 2015, v. 32, n. 3, p. e124, doi. 10.1111/pde.12555
By:
- Garza‐Rodríguez, Verónica;
- Fuente‐García, Alberto;
- Liy‐Wong, Carmen;
- Küry, Sébastien;
- Schmitt, Sébastien;
- Jamall, Ijaz S.;
- Ocampo‐Candiani, Jorge
Publication type:
Article
Identification of a Novel Mutation in the SLC39A4 Gene in a Case of Acrodermatitis Enteropathica.
Published in:
2016
By:
- Panzer, Rüdiger;
- Küry, Sébastien;
- Schmitt, Sébastien;
- Fölster-Holst, Regina
Publication type:
Case Study
Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease Pathogenesis.
Published in:
Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.733012
By:
- Ebstein, Frédéric;
- Küry, Sébastien;
- Papendorf, Jonas Johannes;
- Krüger, Elke
Publication type:
Article
Clinical Zinc Deficiency as Early Presentation of Wilson Disease.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 4, p. 457, doi. 10.1097/MPG.0000000000000628
By:
- Van Biervliet, Stephanie;
- Küry, Sébastien;
- De Bruyne, Ruth;
- Vanakker, Olivier M.;
- Schmitt, Sébastien;
- Velde, Saskia Vande;
- Blouin, Eric;
- Bézieau, Stéphane
Publication type:
Article
Cover Image, Volume 39, Issue 12.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. i, doi. 10.1002/humu.23687
By:
- Proietti Onori, Martina;
- Koopal, Balwina;
- Everman, David B.;
- Worthington, Jessica D.;
- Jones, Julie R.;
- Ploeg, Melissa A.;
- Mientjes, Edwin;
- Bon, Bregje W.;
- Kleefstra, Tjitske;
- Schulman, Howard;
- Kushner, Steven A.;
- Küry, Sébastien;
- Elgersma, Ype;
- Woerden, Geeske M.
Publication type:
Article
The intellectual disability‐associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain‐of‐function.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 2008, doi. 10.1002/humu.23647
By:
- Proietti Onori, Martina;
- Koopal, Balwina;
- Everman, David B.;
- Worthington, Jessica D.;
- Jones, Julie R.;
- Ploeg, Melissa A.;
- Mientjes, Edwin;
- Bon, Bregje W.;
- Kleefstra, Tjitske;
- Schulman, Howard;
- Kushner, Steven A.;
- Küry, Sébastien;
- Elgersma, Ype;
- Woerden, Geeske M.
Publication type:
Article
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Published in:
Human Mutation, 2016, v. 37, n. 4, p. 354, doi. 10.1002/humu.22952
By:
- Isidor, Bertrand;
- Küry, Sébastien;
- Rosenfeld, Jill A.;
- Besnard, Thomas;
- Schmitt, Sébastien;
- Joss, Shelagh;
- Davies, Sally J;
- Roger Lebel, Robert;
- Henderson, Alex;
- Schaaf, Christian P.;
- Streff, Haley E.;
- Yang, Yaping;
- Jain, Vani;
- Chida, Nodoka;
- Latypova, Xenia;
- Caignec, Cédric Le;
- Cogné, Benjamin;
- Mercier, Sandra;
- Vincent, Marie;
- Colin, Estelle
Publication type:
Article
BAK1 gene variation and abdominal aortic aneurysms-results may have been prematurely overrated.
Published in:
Human Mutation, 2010, v. 31, n. 10, p. 1174, doi. 10.1002/humu.21324
By:
- Küry, Sébastien;
- Airaud, Fabrice;
- Piloquet, Philippe;
- Bézieau, Stéphane
Publication type:
Article
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.
Published in:
2009
By:
- Schmitt, Sébastien;
- Küry, Sébastien;
- Giraud, Mathilde;
- Dréno, Brigitte;
- Kharfi, Monia;
- Bézieau, Stéphane
Publication type:
Other
Mendelian randomization study of height and risk of colorectal cancer.
Published in:
International Journal of Epidemiology, 2015, v. 44, n. 2, p. 662, doi. 10.1093/ije/dyv082
By:
- Thrift, Aaron P.;
- Jian Gong;
- Peters, Ulrike;
- Chang-Claude, Jenny;
- Rudolph, Anja;
- Slattery, Martha L.;
- Chan, Andrew T.;
- Esko, Tonu;
- Wood, Andrew R.;
- Jian Yang;
- Vedantam, Sailaja;
- Gustafsson, Stefan;
- Pers, Tune H.;
- Baron, John A.;
- Bezieau, Stéphane;
- Küry, Sébastien;
- Ogino, Shuji;
- Berndt, Sonja I.;
- Casey, Graham;
- Haile, Robert W.
Publication type:
Article
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Published in:
Science Translational Medicine, 2023, v. 15, n. 698, p. 1, doi. 10.1126/scitranslmed.abo3189
By:
- Ebstein, Frédéric;
- Küry, Sébastien;
- Most, Victoria;
- Rosenfelt, Cory;
- Scott-Boyer, Marie-Pier;
- van Woerden, Geeske M.;
- Besnard, Thomas;
- Papendorf, Jonas Johannes;
- Studencka-Turski, Maja;
- Wang, Tianyun;
- Hsieh, Tzung-Chien;
- Golnik, Richard;
- Baldridge, Dustin;
- Forster, Cara;
- de Konink, Charlotte;
- Teurlings, Selina M.W.;
- Vignard, Virginie;
- van Jaarsveld, Richard H.;
- Ades, Lesley;
- Cogné, Benjamin
Publication type:
Article
Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica<FN ID="fn1">Communicated by Michel Goossens</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #649 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/649.pdf</FN>
Published in:
Human Mutation, 2003, v. 22, n. 4, p. 337
By:
- Sébastien Küry;
- Monia Kharfi;
- Ridha Kamoun;
- Alain Taïeb;
- Eric Mallet;
- Jean-Jacques Baudon;
- Catherine Glastre;
- Bruno Michel;
- Francis Sebag;
- David Brooks;
- Volker Schuster;
- Catherine Scoul;
- Brigitte Dréno;
- Stéphane Bézieau;
- Jean-Paul Moisan
Publication type:
Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0412-6
By:
- Eldomery, Mohammad K.;
- Coban-Akdemir, Zeynep;
- Harel, Tamar;
- Rosenfeld, JillA.;
- Gambin, Tomasz;
- Stray-Pedersen, Asbjørg;
- Küry, Sébastien;
- Mercier, Sandra;
- Lessel, Davor;
- Denecke, Jonas;
- Wiszniewski, Wojciech;
- Penney, Samantha;
- Pengfei Liu;
- Weimin Bi;
- Lalani, Seema R.;
- Schaaf, Christian P.;
- Wangler, Michael F.;
- Bacino, Carlos A.;
- Lewis, Richard Alan;
- Potocki, Lorraine
Publication type:
Article

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