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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
By:
- Gauthier‐Vasserot, Alexandra;
- Thauvin‐Robinet, Christel;
- Bruel, Ange‐Line;
- Duffourd, Yannis;
- St‐Onge, Judith;
- Jouan, Thibaud;
- Rivière, Jean‐Baptiste;
- Heron, Delphine;
- Donadieu, Jean;
- Bellanné‐Chantelot, Christine;
- Briandet, Claire;
- Huet, Frédéric;
- Kuentz, Paul;
- Lehalle, Daphné;
- Duplomb‐Jego, Laurence;
- Gautier, Elodie;
- Maystadt, Isabelle;
- Pinson, Lucile;
- Amram, Daniel;
- El Chehadeh, Salima
Publication type:
Article
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3027, doi. 10.1002/ajmg.a.36751
By:
- ThevENon, JuliEN;
- Monnier, Nicole;
- Callier, Patrick;
- Dieterich, Klaus;
- Francoise, Michel;
- Montgomery, Tara;
- Kjaergaard, Susanne;
- Neas, Katherine;
- Dixon, Joanne;
- Dahm, Thomas Lee;
- Huet, Frédéric;
- Ragon, ClémENce;
- Mosca ‐ Boidron, Anne ‐ Laure;
- Marle, Nathalie;
- Duplomb, LaurENce;
- Aubriot ‐ Lorton, Marie ‐ Hélène;
- Mugneret, Francine;
- Vokes, Steve A.;
- Tucker, Haley W.;
- Lunardi, Joël
Publication type:
Article
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300
By:
- Gueneau, Lucie;
- Duplomb, Laurence;
- Sarda, Pierre;
- Hamel, Christian;
- Aral, Bernard;
- Chehadeh, Salima El;
- Gigot, Nadège;
- St‐Onge, Judith;
- Callier, Patrick;
- Thevenon, Julien;
- Huet, Frédéric;
- Carmignac, Virginie;
- Droin, Nathalie;
- Faivre, Laurence;
- Thauvin‐Robinet, Christel
Publication type:
Article
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 333, doi. 10.1002/ajmg.a.34401
By:
- Lopez, Estelle;
- Callier, Patrick;
- Cormier-Daire, Valérie;
- Lacombe, Didier;
- Moncla, Anne;
- Bottani, Armand;
- Lambert, Sandy;
- Goldenberg, Alice;
- Doray, Bérénice;
- Odent, Sylvie;
- Sanlaville, Damien;
- Gueneau, Lucie;
- Duplomb, Laurence;
- Huet, Frédéric;
- Aral, Bernard;
- Thauvin-Robinet, Christel;
- Faivre, Laurence
Publication type:
Article
Des organoïdes cérébraux pour la compréhension et la thérapie des maladies génétiques rares avec troubles neurodéveloppementaux.
Published in:
Médecine Sciences, 2024, v. 40, n. 8/9, p. 643, doi. 10.1051/medsci/2024100
By:
- El It, Fatima;
- Faivre, Laurence;
- Thauvin-Robinet, Christel;
- Vitobello, Antonio;
- Duplomb, Laurence
Publication type:
Article
Concise Review: Embryonic Stem Cells: A New Tool to Study Osteoblast and Osteoclast Differentiation.
Published in:
Stem Cells, 2007, v. 25, n. 3, p. 544, doi. 10.1634/stemcells.2006-0395
By:
- Duplomb, Laurence;
- Dagouassat, Maylis;
- Jourdon, Philippe;
- Heymann, Dominique
Publication type:
Article
Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in RANKL-induced osteoclastogenesis.
Published in:
Journal of Pathology, 2010, v. 221, n. 1, p. 77, doi. 10.1002/path.2684
By:
- Baud'Huin, Marc;
- Renault, Romain;
- Charrier, Céline;
- Riet, Anne;
- Moreau, Anne;
- Brion, Régis;
- Gouin, François;
- Duplomb, Laurence;
- Heymann, Dominique
Publication type:
Article
Differentiation of osteoblasts from mouse embryonic stem cells without generation of embryoid body.
Published in:
In Vitro Cellular & Developmental Biology Animal, 2007, v. 43, n. 1, p. 21, doi. 10.1007/s11626-006-9010-4
By:
- Duplomb, Laurence;
- Dagouassat, Maylis;
- Jourdon, Philippe;
- Heymann, Dominique
Publication type:
Article
FR901228, an inhibitor of histone deacetylases, increases the cellular responsiveness to IL-6 type cytokines by enhancing the expression of receptor proteins.
Published in:
Oncogene, 2002, v. 21, n. 41, p. 6264, doi. 10.1038/sj.onc.1205777
By:
- Blanchard, Fréderic;
- Kinzie, Erin;
- Yanping Wang;
- Duplomb, Laurence;
- Godard, Anne;
- Held, Wiiliam A.;
- Asch, Bonnie B.;
- Baumann, Heinz
Publication type:
Article
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 7, p. 957, doi. 10.1038/ejhg.2014.213
By:
- Courcet, Jean- Benoît;
- Elalaoui, Siham Chafai;
- Duplomb, Laurence;
- Tajir, Mariam;
- Rivière, Jean-Baptiste;
- Thevenon, Julien;
- Gigot, Nadège;
- Marle, Nathalie;
- Aral, Bernard;
- Duffourd, Yannis;
- Sarasin, Alain;
- Naim, Valeria;
- Courcet-Degrolard, Emilie;
- Aubriot-Lorton, Marie- Hélène;
- Martin, Laurent;
- Abrid, Jamal Eddin;
- Thauvin, Christel;
- Sefiani, Abdelaziz;
- Vabres, Pierre;
- Faivre, Laurence
Publication type:
Article
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
By:
- El Chehadeh-Djebbar, Salima;
- Blair, Edward;
- Holder-Espinasse, Muriel;
- Moncla, Anne;
- Frances, Anne-Marie;
- Rio, Marlène;
- Debray, François-Guillaume;
- Rump, Patrick;
- Masurel-Paulet, Alice;
- Gigot, Nadège;
- Callier, Patrick;
- Duplomb, Laurence;
- Aral, Bernard;
- Huet, Frédéric;
- Thauvin-Robinet, Christel;
- Faivre, Laurence
Publication type:
Article
Proteoglycans: key partners in bone cell biology.
Published in:
BioEssays, 2007, v. 29, n. 8, p. 758, doi. 10.1002/bies.20612
By:
- Lamoureux, François;
- Baud'huin, Marc;
- Duplomb, Laurence;
- Heymann, Dominique;
- Rédini, Fran&#x00E7'oise
Publication type:
Article
Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking.
Published in:
Cellular & Molecular Life Sciences, 2020, v. 77, n. 3, p. 511, doi. 10.1007/s00018-019-03192-4
By:
- Da Costa, Romain;
- Bordessoules, Morgane;
- Guilleman, Magali;
- Carmignac, Virginie;
- Lhussiez, Vincent;
- Courot, Hortense;
- Bataille, Amandine;
- Chlémaire, Amandine;
- Bruno, Céline;
- Fauque, Patricia;
- Thauvin, Christel;
- Faivre, Laurence;
- Duplomb, Laurence
Publication type:
Article
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 567, doi. 10.1111/cge.13709
By:
- Garret, Philippine;
- Ebstein, Frédéric;
- Delplancq, Geoffroy;
- Dozieres‐Puyravel, Blandine;
- Boughalem, Aïcha;
- Auvin, Stéphane;
- Duffourd, Yannis;
- Klafack, Sandro;
- Zieba, Barbara A.;
- Mahmoudi, Sana;
- Singh, Karun K.;
- Duplomb, Laurence;
- Thauvin‐Robinet, Christel;
- Costa, Jean‐Marc;
- Krüger, Elke;
- Trost, Detlef;
- Verloes, Alain;
- Faivre, Laurence;
- Vitobello, Antonio
Publication type:
Article
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95743-8
By:
- Gabrielle, Pierre-Henry;
- Faivre, Laurence;
- Audo, Isabelle;
- Zanlonghi, Xavier;
- Dollfus, Hélène;
- Thiadens, Alberta A. H. J.;
- Zeitz, Christina;
- Mancini, Grazia M. S.;
- Perdomo, Yaumara;
- Mohand-Saïd, Saddek;
- Lizé, Eléonore;
- Lhussiez, Vincent;
- Nandrot, Emeline F.;
- Acar, Niyazi;
- Creuzot-Garcher, Catherine;
- Sahel, José-Alain;
- Ansar, Muhammad;
- Thauvin-Robinet, Christel;
- Duplomb, Laurence;
- Da Costa, Romain
Publication type:
Article
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 23, p. 4680, doi. 10.1093/hmg/ddx349
By:
- Duplomb, Laurence;
- Droin, Nathalie;
- Bouchot, Olivier;
- Thauvin-Robinet, Christel;
- Bruel, Ange-Line;
- Thevenon, Julien;
- Callier, Patrick;
- Meurice, Guillaume;
- Pata-Merci, Noémie;
- Loffroy, Romaric;
- Vandroux, David;
- Costa, Romain D. A.;
- Carmignac, Virginie;
- Solary, Eric;
- Faivre, Laurence
Publication type:
Article
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 23, p. 6603, doi. 10.1093/hmg/ddv366
By:
- Limoge, Floriane;
- Faivre, Laurence;
- Gautier, Thomas;
- Petit, Jean-Michel;
- Gautier, Elodie;
- Masson, David;
- Jego, Gaëtan;
- El Chehadeh-Djebbar, Salima;
- Marle, Nathalie;
- Carmignac, Virginie;
- Deckert, Valérie;
- Brindisi, Marie-Claude;
- Edery, Patrick;
- Ghoumid, Jamal;
- Blair, Edward;
- Lagrost, Laurent;
- Thauvin-Robinet, Christel;
- Duplomb, Laurence
Publication type:
Article
Cohen syndrome is associated with major glycosylation defects.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630
By:
- Duplomb, Laurence;
- Duvet, Sandrine;
- Picot, Damien;
- Jego, Gaëtan;
- El Chehadeh-Djebbar, Salima;
- Marle, Nathalie;
- Gigot, Nadège;
- Aral, Bernard;
- Carmignac, Virginie;
- Thevenon, Julien;
- Lopez, Estelle;
- Rivière, Jean-Baptiste;
- Klein, André;
- Philippe, Christophe;
- Droin, Nathalie;
- Blair, Edward;
- Girodon, François;
- Donadieu, Jean;
- Bellanné-Chantelot, Christine;
- Delva, Laurent
Publication type:
Article
Gallium modulates osteoclastic bone resorption in vitro without affecting osteoblasts.
Published in:
British Journal of Pharmacology, 2010, v. 159, n. 8, p. 1681, doi. 10.1111/j.1476-5381.2010.00665.x
By:
- Verron, Elise;
- Masson, Martial;
- Khoshniat, Solmaz;
- Duplomb, Laurence;
- Wittrant, Yohann;
- Baud'huin, Marc;
- Badran, Zahi;
- Bujoli, Bruno;
- Janvier, Pascal;
- Scimeca, Jean-Claude;
- Bouler, Jean-Michel;
- Guicheux, Jérôme
Publication type:
Article
A first-in-class inhibitor of HSP110 to potentiate XPO1-targeted therapy in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma.
Published in:
Journal of Experimental & Clinical Cancer Research (17569966), 2024, v. 43, n. 1, p. 1, doi. 10.1186/s13046-024-03068-x
By:
- Durand, Manon;
- Cabaud Gibouin, Vincent;
- Duplomb, Laurence;
- Salmi, Leila;
- Caillot, Mélody;
- Sola, Brigitte;
- Camus, Vincent;
- Jardin, Fabrice;
- Garrido, Carmen;
- Jego, Gaëtan
Publication type:
Article
Periodontal disorders in a cohort of patients with Cohen syndrome.
Published in:
Special Care in Dentistry, 2021, v. 41, n. 1, p. 118, doi. 10.1111/scd.12544
By:
- Lafon, Arnaud;
- Faivre, Laurence;
- Seux, Dominique;
- Gautier, Elodie;
- Duplomb, Laurence;
- Grogogeat, Brigitte;
- Marcelet, Anahide;
- Laforest, Laurent
Publication type:
Article
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
Published in:
Journal of Molecular Medicine, 2019, v. 97, n. 5, p. 633, doi. 10.1007/s00109-019-01754-4
By:
- Duplomb, Laurence;
- Rivière, Julie;
- Jego, Gaëtan;
- Da Costa, Romain;
- Hammann, Arlette;
- Racine, Jessica;
- Schmitt, Alain;
- Droin, Nathalie;
- Capron, Claude;
- Gougerot-Pocidalo, Marie-Anne;
- Dubrez, Laurence;
- Aral, Bernard;
- Lafon, Arnaud;
- Edery, Patrick;
- Ghoumid, Jamal;
- Blair, Edward;
- El Chehadeh-Djebbar, Salima;
- Carmignac, Virginie;
- Thevenon, Julien;
- Guy, Julien
Publication type:
Article
Conditioned media from mouse osteosarcoma cells promote MC3T3-E1 cell proliferation using JAKs and PI3-K/Akt signal crosstalk.
Published in:
Cancer Science, 2008, v. 99, n. 11, p. 2170, doi. 10.1111/j.1349-7006.2008.00919.x
By:
- Mori, Kanji;
- Blanchard, Frederic;
- Charrier, Celine;
- Battaglia, Severine;
- Ando, Kosei;
- Duplomb, Laurence;
- Shultz, Leonard D.;
- Redini, Francoise;
- Heymann, Dominique
Publication type:
Article

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