Publications 2010

Seules les publications en lien avec les anomalies du développement et syndromes malformatifs sont citées.

  • M.A. Tischfield, H.N Baris, C. Wu, G. Rudolph, L. Van Maldergem, W. He, W.M. Chan, C. Andrews, J.L. Demer, R.L. Robertson, D.A. Mackey, J.B. Ruddle, T.D. Bird, I. Gottlob, C. Pieh, E.I. Traboulsi, S.L. Pomeroy, D.G. Hunter, J.S Soul, A. Newlin, L.J. Sabol, E.J. Doherty, C.E. de Uzcátegui, N. de Uzcátegui, M.L. Collins, E.C. Sener, B. Wabbels, H. Hellebrand, T. Meitinger, Y. de Berardinis, A. Magli, C. Schiavi, M. Pastore-Trossello, F. Koc, A.M. Wong, A.V. Levin, M.T. Geraghty, M. Descartes, M. Flaherty, R.V. Jamieson, H.U. Møller, I. Meuthen, D.F. Callen, J. Kerwin, S. Lindsay, A. Meindl, M.L. Jr Gupta, D. Pellman, E.C. Engle. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010;140:74-87.
  • P. Latour, C. Thauvin-Robinet, C. Baudelet-Méry, P. Soichot, V. Cusin, L. Faivre, M.C. Locatelli, M. Mayençon, A. Sarcey, E. Broussolle, W. Camu, A. David, R. Rousson. A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic Alanyl tRNA Synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet, 2010;86:77-82.
  • P. Fauque, M.A. Ripoche, J. Tost, L. Journot, F. Busato, F. Mondon, I. Gut, P. Jouannet, D. Vaiman, L. Dandolo, H. Jammes. Modulation of imprinted gene network in placenta results in normal development of in vitro manipulated mouse embryos. Hum Mol Genet 2010; 19:1779-90.
  • CC. Boissonnas, H. El Abdalaou, J. Tost, V. Haeleween, P. Fauque, JM. Dupont, D. Vaiman, P. Jouannet, H. Jammes. Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men. Eur J Hum Genet 2010; 18:73-80.
  • D. Detaint, L. Faivre, G. Collod-Beroud, A. Child, B.L. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Stheneur, D. Halliday, C. Beroud, C. Bonithon-Kopp,M. Claustres, H. Plauchu, P.N. Robinson, L. Adès, U. Francke, A. De Paepe, C. Boileau, G. Jondeau. The burden of cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J 2010;31:2223-9.
  • M. Willems, D. Geneviève, G. Borck, C. Baumann, G. Baujat, E. Bieth, P. Edery, E. Farra, M. Gérard, D. Héron, B. Leheup, M. Le Merrer, S. Lyonnet, D. Martin-Coignard, M. Mathieu, C. Thauvin-Robinet, A. Verloes, L. Colleaux, A. Munnich, V. Cormier-Daire. Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families. J Med Genet 2010;47:797-802.
  • C. Bonnet, J. Andrieux, M. Béri-Dexheimer, B. Leheup, O. Boute, S. Manouvrier, B. Delobel, H. Copin, A. Receveur, M. Mathieu, G. Thiriez, C. Le Caignec, A. David, MC. de Blois, V. Malan, A. Philippe, V. Cormier-Daire, L. Colleaux, E. Flori, H. Dollfus, V. Pelletier, C. Thauvin-Robinet, A. Masurel-Paulet, L. Faivre, M. Tardieu, N. Bahi-Buisson, P. Callier, F. Mugneret, P. Edery, P. Jonveaux, D. Sanlaville. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. J Med Genet 2010;47:377-84.
  • S. El Chehadeh, B. Aral, N. Gigot, C. Thauvin-Robinet, MA. Delrue, D. Lacombe, A. David, L. Burglen, N. Philip, A. Moncla, V. Cormier-Daire, M. Rio, P. Edery, A. Verloes, D. Bonneau, A. Affenjar, A. Jacquette, D. Heron, E. Jeandidier, P. Sarda, L. Pinson, B. Doray, J. Vigneron, B. Leheup, AM. Frances-Guidet, Dr. Dienne, M. Holder, A. Masurel-Paulet, F. Huet, J.R. Teyssier, L. Faivre. Search for the best indicators for the presence of a VPS13B gene mutation from a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet 2010;47:549-53.
  • B.L. Loeys, H.C. Dietz, A.C. Braverman, B.L. Callewaert, J. De Backer, R.B. Devereux, Y. Hilhorst-Hofstee, G. Jondeau, L. Faivre, D.M. Milewicz, R.E. Pyeritz, P.D. Sponseller, P. Wordsworth, A.M. De Paepe. Towards a revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-85.
  • M. Baud'huin, R. Renault, C. Charrier, A. Moreau, F. Gouin, L. Duplomb, D. Heymann. Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in RANKL-induced osteoclastogenesis. J Pathol 2010;221:77-86.
  • J. Mazereeuw-Hautier, P.H. Hoeger, S. Benlahrech, A. Ammour, P. Broue, J. Vial, G. Ohanessian, C. Léauté-Labrèze, M. Labenne, P. Vabres, J. Rössler, C. Bodemer. Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis. J Pediatr 2010;157:340-2.
  • V. Oji, G. Tadini, M. Akiyama, C. Blanchet-Bardon, C. Bodemer, E. Bourrat, P. Coudiere, J.J. DiGiovanna, P. Elias, J. Fischer, P. Fleckmann, M. Gina, J. Harper, T. Hashimoto, I. Hausser, H.C. Hennies, D. Hohl, A. Hovnanian, A. Ishida-Yamamoto, W.K. Jacyk, S. Leachman, I. Leigh, J. Mazereeuw-Hautier, L. Milstone, F. Morice-Picard, A.S. Paller, G. Richard, M. Schmuth, H. Shimizu, E. Sprecher, M. van Steensel, A. Taieb, J.R. Toro, P. Vabres, A. Vahlquist, M. Williams, H. Traupe. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010;63:607-41.
  • M. Arslan-Kirchner, J. Epplen, L. Olivier-Faivre. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet 2010 Sep;18(9). doi: 10.1038/ejhg.2010.42.
  • S. Saal, L. Faivre, B. Aral, N. Gigot, A. Toutain, L. Van Maldergem, A. Destree, I. Maystadt, JP. Cosyns, PS. Jouk, B. Loeys, D. Chauveau, E. Bieth, V. Layet, M. Mathieu, J. Lespinasse, A. Teebi, B. Franco, E. Gautier, C. Binquet, A. Masurel-Paulet, C. Mousson, JB. Gouyon, F. Huet, C. Thauvin-Robinet. Renal insufficiency, a frequent complication with age in adults in oral-facial-digital syndrome type I. Clin Genet 2010;77:258–65.
  • A. Masurel-Paulet, J. Andrieux, P. Callier, JM. Cuisset, C. Le Caignec, M. Holder, C. Thauvin-Robinet, B. Doray, E. Flori, MP. Alex-Cordier, M. Beri, O. Boute, B. Delobel, A. Dieux, L. Vallee, S. Jaillard, S. Odent, B. Isidor, C. Beneteau, J. Vigneron, F. Bilan, B. Gilbert-Dussardier, C. Dubourg, C. Bidon, JM. Pinoit, F. Huet, F. Mugneret, B. Aral, P. Jonveaux, D. Sanlaville, L. Faivre. Further delineation of 15q13.3 microdeletions. Clin Genet 2010;78:149-61.
  • C. Thauvin-Robinet, A. Munck, F. Huet, C. Binquet, E. Girodon. NBS programs: limits and negative consequences ? The example of cystic fibrosis. J Epidemiol Common Health 2010;64:937-8.
  • A. Orrico, L. Galli, L. Faivre, J. Clayton-smith, S. Azzarello-Burri, JM. Hertz, S. Jacquemont, R. Taurisano, I. Arroyo Carrera, E. Tarantino, K. Devriendt, D. Melis, T. Thelle, V. Sorrentino. Aarskog-Scott Syndrome: Clinical update and report of 9 novel mutations of the FGD1 gene. Am J Med Genet A 2010;152:313-8.
  • A.L. Mosca, P. Callier, A. Masurel-Paulet, C. Thauvin-Robinet, N. Marle, M. Nouchy, F. Huet, D. Dipanda, A De Paepe, P. Coucke, F. Mugneret, L. Faivre. Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome. Am J Med Genet 2010;152A:1314-7.
  • E. Goujon, F. Beer, S. Fraitag, A. Hovnanian, P. Vabres. 'Matchstick' eyebrow hairs: a dermoscopic clue to the diagnosis of Netherton syndrome. J Eur Acad Dermatol Venereol 2010;24:740-1.
  • L. Faivre, P. Khau Van Kien, P. Callier, N. Ruiz-Pallares, C. Baudoin, A. Plancke, JE. Wolf, C. Thauvin-Robinet, A. Masurel-Paulet, F. Coron, G. Jondeau, C. Boileau, F. Huet, M. Claustres, F. Mugneret. De novo interstitial 15q deletion identified by FBN1 MLPA and refined by array-CGH in a female teenager with an incomplete Marfan syndrome. Eur J Med Genet 2010;53:208-12.
  • E. Goujon, K.M. Cordoro, M. Barat, T. Rousseau, P. Brouillard, M. Vikkula, I.J. Frieden, P. Vabres. Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites. Pediatr Dermatol 2010 Dec 7. doi: 10.1111/j.1525-1470.2010.01216.x.
  • L. Joly, C. Thauvin-Robinet, F. Huet, JM. Pinoit, A. Contrain, A. Masurel-Paulet, C. Cassini, F. Coron, B. Bonin, F. Levy, G. Lesca, C. Goizet, P. Charron, P. Bouvagnet, C. Colas, O. Caron, I. François, JP. Pierron, L. Tourtelier, A. Nivelon, A. Greffier, S. Nezelof, E. Gautier, M. Gargiulo, D. Heron, A. Dürr, L. Faivre, pour le Groupe de Génétique Prédictive. Les tests génétiques présymptomatiques chez le mineur : Enquête auprès Généticiens Français et position du Groupe Français de Génétique Prédictive. Arch Fr Pediatr 2010;17:1000-7.
  • P. Fauque P, F. Mondon, F. Letourneur, M.A. Ripoche, S. Barbaux, L. Dandolo, C. Patrat, J.P. Wolf, P. Jouannet, H. Jammes, D. Vaiman. Assisted Reproductive Technologies Strongly Impact the Placental Transcriptome. PloS One 2010;5:e9218.
  • T. Rousseau, C. Ferdynus , C. Thauvin-Robinet , J.B. Gouyon, P. Sagot P.Impact of maternal age distribution on the expected live birth prevalence of Down's syndrome in the metropolitan France between 1965 and 2008. J Gynecol Obstet Biol Reprod (Paris) 2010;39:284-9.
  • T. Rousseau, E. Amar, C. Ferdynus, C. Thauvin-Robinet, JB. Gouyon,P. Sagot P. Variations in the prevalence of Down's syndrome in the French population between 1978 and 2005. Gynecol Obstet Biol Reprod (Paris) 2010;39:290-6.
  • D. Detaint, Aegerter P, Tubach F, Hoffman I, Plauchu H, Dulac Y, Faivre LO, Delrue MA, Collignon P, Odent S, Tchitchinadze M, Bouffard C, Arnoult F, Gautier M, Boileau C, Jondeau G. Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. Arch Cardiovasc Dis 2010;103:317-25.