Publications 2009

  • B. Reversade, N. Escande-Beillard, A. Dimopoulou, B. Fischer, S.C. Chng, Y. Li, M. Shboul, P.Y. Tham, H. Kayserili, L. Al-Gazali, M. Shahwan, F. Brancati, H. Lee, B.D. O'Connor, M. Schmidt-von Kegler, B. Merriman, S.F. Nelson, A. Masri, F. Alkazaleh, D. Guerra, P. Ferrari, A. Nanda, A. Rajab, D. Markie, M. Gray, J. Nelson, A. Grix, A. Sommer, R. Savarirayan, A.R. Janecke, E. Steichen, D. Sillence, I. Hausser, B. Budde, G. Nürnberg, P. Nürnberg, P. Seemann, D. Kunkel, G. Zambruno, B. Dallapiccola, M. Schuelke, S. Robertson, H. Hamamy, B. Wollnik, L. Van Maldergem, S. Mundlos, U. Kornak. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009;41:1016-21.
  • Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT; Fabry Outcome Survey investigators (L. Van Maldergem). Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009;374:1986-96.
  • D. Attias, C. Stheneur, C. Roy, G. Collod-Berroud, D. Detaint, L. Faivre, MA. Delrue, L. Cohen, C. Francannet, C. Beroud, M. Claustres, F. Iserin, P. Khau Van Kien, D. Lacombe, M. Le Merrer, S. Lyonnet, S. Odent, H. Plauchu, M. Rio, A. Rossi, D. Sidi, PG. Steg, P. Ravaud, C. Boileau, G. Jondeau. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation 2009;120:2541-9.
  • A. Guilmatre, C. Dubourg, A.L. Mosca, S. Legallic, A. Goldenberg, V. Drouin-Garraud, V. Layet, A. Rosier, S. Briault, F. Bonnet-Brilhault, F. Laumonnier, S. Odent, G. Le Vacon, G. Joly-Helas, V. David, C. Bendavid, JM. Pinoit, C. Henry, C. Impallomeni, E. Germano, G. Tortorella, G. Di Rosa, C. Barthelemy, C. Andres, L. Faivre, T. Frébourg, P. Saugier Veber, D. Campion. Recurrent rearrangements in synaptic and neurodevelopmental genes support the existence of shared biological pathways between Schizophrenia, autism and MR. Arch Gen Psychiatr 2009;66;947-956.
  • K.L.M. Coene, R. Roepman, D. Doherty, B. Afroze, H. Kroes, S.J.F. Letteboer, N. Hock Lock, B. Budny, E. van Wijk, M. Azhimi, C. Thauvin-Robinet, J. Veltman, M. Boink, T. Kleefstra, F. Cremers, H. van Bokhoven, A.P.M. de Brouwer. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009;85:465-81.
  • L Gueneau, AT Bertrand, JP Jais, MA Salih, T Stojkovic, M Wehnert, S Saitoh, A Verschueren, C Tranchant, M Beuvin, E Lacene, NB Romero, S Heath, D Zelenika, T Voit, B Eymard, R Ben Yaou, G Bonne. Mutations of FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2009;85 :1-16
  • A. Sabbagh, E. Pasmant, I. Laurendeau, B. Parfait, S. Barbarot, B. Guillot, P. Combemale, S. Ferkal, M. Vidaud, P. Aubourg, D. Vidaud, P. Wolkenstein; members of the NF France Network (L. Faivre, C. Thauvin). Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet 2009;18:2768-78.
  • V. Hucthagowder, E. Morava, U. Kornak, D.J. Lefeber, B. Fischer, A. Dimopoulou, A. Aldinger, J. Choi, E.C. Davis, D.N. Abuelo, M. Adamowicz, J. Al-Aama, L. Basel-Vanagaite, B. Fernandez, M.T. Greally, G. Gillessen-Kaesbach, H. Kayserili, E. Lemyre, M. Tekin, S. Türkmen, B. Tuysuz, B. Yüksel-Konuk, S. Mundlos, L. Van Maldergem, R.A. Wevers, Z. Urban. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet 2009;18:2149-65.
  • W.A. Paznekas, B. Karczeski, S. Vermeer, R.B. Lowry, M. Delatycki, L. Faivre, P.A. Koivisto, L. Van Maldergem, S.A Boyadjiev, J.N. Bodurtha, E.W. Jabs. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009;30:724-33.
  • MY. Frédéric, C. Monino, C. Marschall, D. Hamroun, L. Faivre, G. Jondeau, HG. Klein, L. Neumann, E. Gautier, C. Binquet, C. Maslen, M. Godfrey, P. Gupta, D. Milewicz, C. Boileau, M. Claustres, C. Béroud, G. Collod-Béroud. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat 2009; 30:181-90.
  • C. Thauvin-Robinet, B. Franco, P. Saugier-Veber, B. Aral, N. Gigot, A. Donzel, L. Van Maldergem, E. Bieth, V. Layet, M. Mathieu, A. Teebi, J. Lespinasse, P. Callier, F. Mugneret, A. Masurel-Paulet, E. Gautier, F. Huet, J.R. Teyssier, M. Tosi, T. Frebourg, L. Faivre. Genomic deletions of the OFD1 gene account for 23 % of Oral-Facial-Digital type 1 syndrome after negative DNA sequencing. Hum Mut 2009;30:E320-9.
  • WA. Paznekas, B. Karczeski, S. Vermeer, RB. Lowry, M. Delatycki, L. Faivre, PA. Koivisto, L. Van Maldergen, SA. Boyadjiev, JN. Bodurtha, EW. Jabs. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the Oculodentodigital dysplasia. Hum Mut 2009;30:724-33.
  • F. Blanchard, L. Duplomb, M. Baud'huin, B. Brounais. The dual role of IL-6-type cytokines on bone remodeling and bone tumors. Cytokine Growth Factor Rev 2009;20:19-28.
  • C. Thauvin-Robinet, A. Munck, F. Huet, E. Génin, G. Bellis, E. Gautier, MP. Audrézet, C. Férec, G. Lalau, MD. Georges, M. Claustres, T. Bienvenu, B. Gérard, P. Boisseau, F. Cabet-Bey, D. Feldmann, C. Clavel, E. Bieth, A. Iron, B. Simon-Boy, C. Costa, R. Medina, J. Leclerc, D. Hubert, R. Nové-Josserand, I. Sermet-Gaudelus, G. Rault, J. Flori, S. Leroy, N. Wizla, G. Bellon, A. Haloun, S. Perez-Martin, G. d'Acremont, H. Corvol, A. Clément, E. Houssin, C. Binquet, C. Bonithon-Kopp, C. Alberti-Boulmé, MA. Morris, L. Faivre, M. Goossens, M. Roussey, Collaborating group on R117H, E. Girodon. A very low penetrance of R117H;7T for cystic fibrosis and CFTR-related disorders; implications for genetic counselling and screening purposes. J Med Genet 2009;46:752-8.
  • M. Baud'huin, L. Duplomb, C. Charrier, M. Maillasson, M. Fouassier, D. Heymann. Factor VIII/von Willebrand Factor complex inhibits RANKL-induced osteoclastogenesis and controls cell survival J Biol Chem 2009;284:31704-13.
  • L. Faivre, A. Masurel-Paulet, G. Collod-Beroud, BL. Callewaert, AH. Child, C. Stheneur, C. Binquet, E. Gautier, B. Chevallier, F. Huet, BL. Loeys, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, M. Grasso, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, PN. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009; 123:391-8.
  • G. Sole, I. Coupry, C. Rooryck, E. Guérineau, F. Martins, S. Devés, C. Hubert, N. Souakri, O. Boute, C. Marchal, L. Faivre, E. Landré, S. Debruxelles, A. Dieux-Coesler, C. Boulay, S. Chassagnon, V. Michel, MC. Routon, A. Toutain, N. Philip, D. Lacombe, L. Villard, B. Arveiler, C. Goizet. Bilateral nodular periventricular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. J Neurol Neurosurg Psychiatry 2009;80:1394-8.
  • C Chalas, H. El abdalaou, J. Tost, V. Haeleween, P. Fauque, J.M. Dupont, D. Vaiman, P.  Jouannet, H. Jammes. Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men. Eur J Hum Genet. 2009; 8.
  • L. Faivre, G. Collod-Beroud, B. Callewaert, A. Child, C. Binquet, E. Gautier, BL. Loeys, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Stheneur, A. Kiotsekoglou, P. Comeglio, N. Marziliano, JE. Wolf, O. Bouchot, P. Khau-Van-Kien, C. Beroud, M. Claustres, C. Bonithon-Kopp, PN. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, G. Jondeau, C. Boileau. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet 2009;17:491-501.
  • C. Stheneur, G. Collod-Béroud, L. Faivre, JF. Buyck, L. Gouya, JM. Le Parc, B. Moura, C. Muti, B. Grandchamp, G. Sultan, M. Claustres, P. Aegerter, B. Chevallier, G. Jondeau, C. Boileau. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet 2009;17:1121-8.
  • M. Cybulla, K.N. Walter, A. Schwarting, R. Divito, S. Feriozzi, G. Sunder-Plassmann; European FOS Investigators Group (L. Van Maldergem). Kidney transplantation in patients with Fabry disease. Transpl Int 2009;22:475-81.
  • A.L. Mosca, P. Callier, L. Faivre, N. Marle, N. Metjean, C. Thauvin-Robinet, A. Masurel-Paulet, N. Madinier, C. Durand, G. Couillault, S. Ragot, F. Huet, J.R. Teyssier, F. Mugneret. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. Am J Med Genet 2009;149A:475-81.
  • L. Faivre, G. Collod-Beroud, B. Callewaert, A. Child, BL. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, N. Marziliano, C. Beroud, C. Bonithon-Kopp, M. Claustres, PN. Robinson, L. Ades, J. De Baecker, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau. Pathogenic FBN1 mutations in 146 adults not meeting diagnostic criteria for Marfan syndrome: Further delineation of Type 1 fibrillinopathy and focus on patients with an isolated major criterion. Am J Med Genet 2009;149:854-60.
  • P. Callier, L. Faivre, N. Marle, C. Thauvin-Robinet, J. Guy, A.L. Mosca, P. D’Athis, A. Masurel-Paulet, D. Assous, J.R. Teyssier, F. Huet, F. Mugneret. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia. Am J Med Genet A 2009;149:1323-6.
  • A. Masurel-Paulet, P. Callier, C. Thauvin-Robinet, M. Chouchane, N. Mejean, N. Marle, A.L. Mosca, D. Ben Salem, M. Giroud, L. Guibaud, F. Huet, F. Mugneret, L. Faivre. Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH. Am J Med Genet A 2009;149:1504-10.
  • C. Thauvin-Robinet, P. Callier, B. Franco, B. Zuffardi O, Payet M, B. Aral, N. Gigot, A. Donzel, A.L. Mosca-Boidron, A. Masurel-Paulet, F. Huet, J.R. Teyssier, F. Mugneret, L. Faivre. Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene. Am J Med Genet A 2009;149:1846-9.
  • L. Faivre, A. Masurel-Paulet, P. Callier, N. Mejean, S. Gay, M. Grimaldi, F. Mugneret, F. Huet, C. Thauvin-Robinet. Vertebral defects as an unusual mode of presentation of 22q11.2 deletion. Am J Med Genet 2009;149A:2865-6.
  • B. Friguls, W. Coroleu, R. del Alcazar, P. Hilbert, L. Van Maldergem, G. Pintos-Morell. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. Eur J Med Genet 2009;52:14-6.
  • A. Atale, P. Bonneau-Amati, A. Rötig, A. Fischer, S. Perez-Martin, P. de Lonlay, P. Niaudet, L. De Parscau, C. Mousson, C. Thauvin-Robinet, A. Munnich, F. Huet, L. Faivre. Tubulopathy and pancytopenia with normal pancreatic function: a variant of Pearson syndrome. Eur J Med Genet 2009;52:23-6.
  • E. Gandjbakhch, V. Fressart, G. Bertaux, L. Faivre, F. Simon, R. Frank, G. Fontaine, E. Villard, C. Coirault, B. Hainque, P. Charron. Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation. Europace 2009;11:379-81.
  • V. Darmency, C. Thauvin-Robinet, T. Rousseau, N. Mejean, S. Charra, F. Coron, C. Cassini, F. Huet, M. Le Merrer, V. Cormier-Daire, N. Laurent, P. Sagot, L. Faivre. Contribution of tridimensional computed tomography in prenatal diagnosis of lethal Caffey disease. Prenat Diagn 2009;29:892-4.
  • P. Callier, L. Faivre, S. Pigeonnat, B. Quilichini, N. Marle, C. Thauvin-Robinet, A.L. Mosca, A. Masurel-Paulet, T. Rousseau, P. Sagot, N. Laurent, F. Mugneret. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20. Prenat Diagn 2009;29:1002-5.
  • JB. Rivière, P. Dion, M. Shekarabi, N. Girard, L. Faivre, RG. Lafrenière, M. Samuel, GA. Rouleau. Mutations in the HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. Med Sci (Paris) 2009;25:235-8.
  • ÖMA. Özdemir, İ. Kılıç, T. Özsarı, L. Faivre, B. Aral, B. Alper Kılıç, D. Gürses, C. Nur Semerci. Fetal Sodium Valproate exposure causes Baller-Gerold syndrome phenotype: Both phenotypes in the same family. Turkish J Pediatr 2009, 51: 631-6.