Publications 2008

  • U. Kornak, E. Reynders, A. Dimopoulou, J. van Reeuwijk, B. Fischer, A. Rajab, B. Budde, P. Nürnberg, F. Foulquier; ARCL Debré-type Study Group, D. Lefeber, Z. Urban, S. Gruenewald, W. Annaert, H.G. Brunner, H. van Bokhoven, R. Wevers, E. Morava, G. Matthijs, L. Van Maldergem, S. Mundlos. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 2008;40:32-4.
  • M. Shekarabi, N. Girard, JB. Rivière, P. Dion, M. Houle, A. Toulouse, RG. Lafrenière, F. Vercauteren, P. Hince, J. Laganiere, D. Rochefort, L. Faivre, M. Samuels, GA. Rouleau. Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type-II. JCI 2008;118:2496-505.
  • K.A. Fantauzzo, M. Tadin-Strapps, Y. You, S.E. Mentzer, F.A. Baumeister, S. Cianfarani, L. Van Maldergem, D. Warburton, J.P. Sundberg, A.M. Christiano. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet 2008;17:3539-51. 
  • L. Van Maldergem, M. Yuksel-Apak, H. Kayserili, E. Seemanova, S. Giurgea, L. Basel-Vanagaite, E. Leao-Teles, J. Vigneron, M. Foulon, M. Greally, J. Jaeken, S. Mundlos, W.B. Dobyns. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology 2008;71:1602-8. 
  • M.Y. Frederic, D. Hamroun, L. Faivre, C. Boileau, G. Jondeau, M. Claustres, C. Beroud, G. Collod-Béroud. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. Hum Mutat 2008;29:33-8.
  • C. Stheneur, G. Collod-Béroud, L. Faivre, L. Gouya, G. Sultan, J.M Le Parc, B. Moura, D. Attias, C. Muti, M. Sznajder, M. Claustres, C. Junien, C. Baumann, V. Cormier-Daire, M. Rio, S. Lyonnet, H. Plauchu, D. Lacombe, B. Chevallier, G. Jondeau, C. Boileau. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mut 2008;29:E284-95.
  • M. Kroos, R.J. Pomponio, L. van Vliet, R.E. Palmer, M. Phipps, R. Van der Helm, D. Halley, A. Reuser; GAA Database Consortium (L. Van Maldergem). Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 2008;29:E13-26.
  • L. Faivre, G. Collod-Beroud, A. Child, B. Callewaert, BL. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, C. Stheneur, A. Kiotsekoglou, P. Comeglio, N. Marziliano, D. Halliday, C. Beroud, C. Bonithon-Kopp, M. Claustres, H. Plauchu, PN. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau, G. Jondeau. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies : an international study of 1009 probands. J Med Genet 2008;45:384-90.
  • C. Thauvin-Robinet, E. Roze, G. Couvreur, M.H. Horellou, F. Sédel, D. Grabli, G. Bruneteau, C. Tonneti, A. Masurel-Paulet, D. Perrenou, T. Moreau, M. Giroud, H. Ogier de Baulny, S. Giraudier, L. Faivre. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry 2008;79:725-8.
  • L. Duplomb, M. Baud'huin, C. Charrier, M. Berreur, V. Trichet, F. Blanchard, D Heymann D. Interleukin-6 inhibits receptor activator of nuclear factor kappaB ligand-induced osteoclastogenesis by diverting cells into the macrophage lineage: key role of Serine727 phosphorylation of signal transducer and activator of transcription 3. Endocrinology 2008; 49:3688-97.
  • F.H. Menko, C.M. Kneepkens, N. de Leeuw, E.A. Peeters, L. Van Maldergem, E.J. Kamsteeg, R. Davidson, L. Rozendaal, C.A. Lasham, C.M. Peeters-Scholte, M.C. Jansweijer, Y. Hilhorst-Hofstee, J.J. Gille, Y.M. Heins, A.W. Nieuwint, E.A. Sistermans. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clin Genet. 2008;74:145-54.
  • H.U. Shirwalkar, Z.M. Patel, J. Magre, P. Hilbert, L. Van Maldergem, R.R. Mukhopadhyay, A. Maitra. Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene. J Inherit Metab Dis 2008 Aug 12. 
  • S. Gay, D. Dupuis, L. Faivre, A. Masurel-Paulet, M. Labenne, M. Colombani, P. Soichot, F. Huet, B. Hainque, D. Sternberg, B. Fontaine, JB. Gouyon, C. Thauvin-Robinet. Severe neonatal non-dystrophic myotonia secondary to a new mutation of the voltage-gated sodium channel (SCN4A) gene. Am J Med Genet A 2008;146:380-3.
  • P. Callier, L. Faivre, C. Thauvin-Robinet, N. Marle, A.L. Mosca, P. D’Athis, J. Guy, A. Masurel-Paulet, L. Joly, S. Guiraud, J.R. Teyssier, F. Huet, F. Mugneret. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlaping with the Goldenhar syndrome. Am J Med Genet A 2008;146:2109-15.
  • M.M. van Haelst, M. Maiburg, G. Baujat, S. Jadeja, E. Monti, E. Bland, K. Pearce, Fraser Syndrome Collaboration Group (C. Thauvin), R.C. Hennekam, P.J. Scambler. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A 2008;146A:2252-7
  • A. Lebbar, P. Callier, F. Baverel, N. Marle, C. Patrat, D. Le Tessier, F. Mugneret, J.M. Dupont. Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility. Am J Med Genet A 2008;146A:2651-6.
  • S. Sharma, K.P. Burdon, A. Dave, R.V. Jamieson, Y. Yaron, F. Billson, L. Van Maldergem, B. Lorenz, J. Gécz, J.E. Craig. Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Mol Vis 2008;14:1856-64.
  • G. Quenum-Miraillet, V. Malan, J. Martinovic, F. Encha-Razavi, B. Aral, I. Texier, J.P. Bonnefont, M. Vekemans, N. Morichon-Delvallez. Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia. Prenat Diagn 2008;28:69-71.