Publications 2011 [GAD]

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

  • E. Sbidian, S. Bastuji-Garin, L. Valeyrie-Allanore, S. Ferkal, J.P. Lefaucheur, A. Drouet, P. Brugière, C. Vialette, P. Combemale, S. Barbarot, P. Wolkenstein; NF France Network (L. Faivre, C. Thauvin). At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study. Orphanet J Rare Dis 2011;6:51.
  • V. Dupé, L. Rochard, S. Mercier, Y. Le Pétillon, I. Gicquel, C. Bendavid, G. Bourrouillou, U. Kini, C. Thauvin-Robinet, T.P. Bohan, S. Odent, C. Dubourg, V. David. Notch, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet 2011;20:1122-31.
  • M. Arslan-Kirchner, JT. Epplen, L. Faivre, G. Jondeau, J. Schmidtke, A. De Paepe, B. Loeys. Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet. 2011 Apr 27. doi: 10.1038/ejhg.2011.68.
  • C. Cluzeau, S. Hadj-Rabia, M. Jambou, S. Mansour, P. Guigue, S. Masmoudi, E. Bal, N. Chassaing, M.C. Vincent, G. Viot, F. Clauss, M.C. Manière, S. Toupenay, M. Le Merrer, S. Lyonnet, V. Cormier-Daire, J. Amiel, L. Faivre, Y. de Prost, A. Munnich, J.P. Bonnefont, C. Bodemer, A. Smahi. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat 2011;32:70-2.
  • B. Isidor, P. Lindenbaum, O. Pichon, S. Bézieau, C. Dina, S. Jacquemont, D. Martin-Coignard, C. Thauvin-Robinet, M. Le Merrer, JL. Mandel, A. David, L. Faivre, V. Cormier-Daire, R. Redon, C Le Caignec. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disease with osteoporosis. Nat Genet 2011;43:306-8.
  • D. Halleux, K. Dahan, C. Thauvin-Robinet, B. Aral, C. Pouteil-Noble, O. Devuyst, Y. Pirson. Outcome of kidney transplantation in type I oral-facial-digital syndrome. Transpl Int 24:e48-e50.
  • C. Thauvin-Robinet, G. Lesca, B. Aral, N. Gigot, S. Lambert, L. Gueneau, M. Macca, B. Franco, F. Huet, M.T. Zabot, T. Attié-Bitach, J. Attia-Sobol, L. Faivre. Cerebral dysgenesis does not exclude OFD I syndrome.Am J Med Genet A. 2011;155:455-7.
  • E. Schaefer, M. Durand, C. Stoetzel, B. Doray, B. Viville, S. Hellé, J.M. Danse, C. Hamel, P. Bitoun, A. Goldenberg, S. Finck, L. Faivre, S. Sigaudy, M. Holder, M.C. Vincent, V. Marion, D. Bonneau, A. Verloes, I. Nisand, J.L. Mandel, H. Dollfus. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet 2011;54:157-60.
  • H. Hichri, L. Faivre, B. Demeer, C. Philippe, V. Laugel, M. Antin, J.M. Pinoit, B. Leheup, A. de Saint-Martin, J. Chelly, J.L. Mandel, D. Devys, M. Cossée. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet 2011;155A:98-105.
  • A. Masurel-Paulet, C. Goizet, E.M. Thompson, A. Tai, D. Kennedy, E. Haan, G. Smith, E. Landre, N. Mejean, A. Houzel, N. Bahi-Buisson, M. Chouchane, C. Thauvin-Robinet, F. Huet, S. Roberston, L. Faivre. Lung disease associated with periventricular nodular heterotopia and FLNA mutation. Eur J Med Genet 2011;54:25-8.
  • C. Stheneur, L. Faivre, G. Collod-Beroud, E. Gautier, C. Binquet, C. Bonithon-Kopp, M. Claustres, AH Child, E Arbustini, LC. Ades, U. Francke, K. Mayer, M. Arslan-Kirchner, A. De Paepe, B. Chevallier, D. Bonnet, G. Jondeau, C. Boileau. Prognosis factors in probands with FBN1 mutation diagnosed before one year. Ped Research 2011;69:265-70.
  • J. Thevenon, P. Callier, C. Thauvin-Robinet, I. Desguerres, A. Masurel-Paulet, N. Mejean, S. Falcon-Eicher, D. Dipanda, D. Perrin, S. Bidot, F. Huet, M. Beri-Dexheimer, P. Jonveaux, F. Mugneret, L. Faivre. De novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection. Am J Med Genet 2011;155A:126-9.
  • M. Cognet, A. Nougayrede, V. Malan, P. Callier, D. Geneviève, A. Goldenberg, D. Heron, A. Verloes, N. Philip, L. Faivre, C. Cretole, S. Sarnaki, A. Munnich, S. Lyonnet, M. Vekemans, H. Etchevers, J. Amiel, L. de Pontual. Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia. J Med Genet 2011;19:602-6.
  • S. El Chehadeh, P. Callier, A. Masurel-Paulet, C. Bensignor, N. Méjean, C. Durand, N. Marle, A.L. Mosca-Boidron, F. Huet, F. Mugneret, L. Faivre, C. Thauvin-Robinet. 17q21.31 microdeletion syndrome in a patient with pituitary stalk interruption syndrome. Eur J Med Genet 2011 ; 54 : 369-373.
  • C. Cassini, C. Thauvin-Robinet, S. Vinault, C. Binquet, F. Coron, S. Mercier, N. Laguette, N. Herman, L. Faivre. Written information to patients in clinical genetics: what's the impact? Eur J Med Genet 2011; 54: 277-280.
  • A. Putoux, S. Thomas, K. Coene, E.E. Davis, Y. Alanay, G. Ogur, E. Uz, D. Buzas, C. Gomes, S. Patrier, C.L. Bennett, N. Elkhartoufi, M.H. Saint Frison, L. Rigonnot, N. Joyé, S. Pruvost, G.E. Utine, K. Boduroglu, P. Nitschke, L. Fertitta, C. Thauvin-Robinet, A. Munnich, V. Cormier-Daire, R. Hennekam, E. Colin, N.A. Akarsu, C. Bole-Feysot, N. Cagnard, A. Schmitt, N. Goudin, S. Lyonnet, F. Encha-Razavi, J.P. Siffroi, M. Winey, N. Katsanis, M. Gonzales, M. Vekemans, P.L. Beales, T. Attié-Bitach. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet 2011;43:601-6.
  • R. Micol, L. Ben Slama, F. Suarez, L. Le Mignot, J. Beauté, N. Mahlaoui, C. Dubois d'Enghien, A. Laugé, J. Hall, J. Couturier, L. Vallée, B. Delobel, F. Rivier, K. Nguyen, T. Billette de Villemeur, J.L. Stephan, P. Bordigoni, Y. Bertrand, N. Aladjidi, J.M. Pedespan, C. Thomas, I. Pellier, M. Koenig, O. Hermine, C. Picard, D. Moshous, B. Neven, F. Lanternier, S. Blanche,M. Tardieu, M. Debré, A. Fischer, D. Stoppa-Lyonnet; CEREDIH Network Investigators (C. Thauvin-Robinet). Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol 2011;128:382-9.e1.
  • A.L. Mosca, P. Callier, L. Faivre, N. Laurent, T. Rousseau, N. Marle, P. Sagot, C. Thauvin-Robinet, F. Mugneret. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region. Am J Med Genet 2011;155A:2031-4.
  • L. Faivre, G. Collod-Beroud, L. Adès, E. Arbustini, A. Child, B. Calleweart, B. Loeys, C. Binquet, E. Gautier, K. Mayer, M. Arslan-Kirchner, M. Grasso, C. Beroud, D. Hamroun, C. Bonithon-Kopp, H. Plauchu, P. Robinson, J. De Backer, P. Coucke, U. Francke, O. Bouchot, J. Wolf, C. Stheneur, N. Hanna, D. Detaint, A. De Paepe, C. Boileau, G. Jondeau. The new Ghent criteria for Marfan syndrome: What do they change? Clin Genet. 2011 May 12. doi: 10.1111/j.1399-0004.2011.01703.
  • S. El Chehadeh, L. Faivre, A. Moncla, B. Aral, C. Missirian, C. Popovici, P. Rump, AJ. Van Essen, AM. Frances, N. Gigot, V. Cusin, A. Masurel-Paulet, M. Payet, C. Ragon, N. Marle, AL. Mosca-Boidron, F. Huet, I. Balikova, JR. Teyssier, F. Mugneret, C. Thauvin-Robinet, P. Callier. The power of high resolution non-targeted array CGH in identifying intragenic rearrangements responsible for Cohen syndrome. J Med Genet 2011 Nov;48:e1.
  • C. Bonnet, M. Grati, S. Marlin, J. Levilliers, J.P. Hardelin, M. Parodi, M. Niasme-Grare, D. Zelenika, M. Delepine, D. Feldmann, L. Jonard, A. El-Amraoui, D. Weil, B. Delobel, C. Vincent, H. Dollfus, M.M. Eliot, A. David, C. Calais, J. Vigneron, B. Montaut-Verient, D. Bonneau, J. Dubin, C Thauvin, A. Duvillard, C. Francannet, T. Mom, D. Lacombe, F. Duriez, V. Drouin-Garraud, M.F. Thuillier-Obstoy, S. Sigaudy, A.M. Frances, P. Collignon, G. Challe, R. Couderc, M. Lathrop, J.A Sahel, J. Weissenbach, C. Petit, F. Denoyelle. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 2011;6:21.
  • M. Avila, B. Aral, P. Callier, N. Gigot, M. Payet, C. Ragon, J. Thevenon, L. Pasquier, E. Lopez, A. Goldenberg, C. Baumann, V. Cormier, S. Marlin, A. Masurel, F. Huet, T. Attié-Bitach, L. Faivre, C. Thauvin-Robinet. GLI3 is rarely implicated in OFD syndrome with midline abnormalities. Hum Mutat 2011;32:1332-3.
  • J. Demars, S. Rossignol, I. Netchine, K.S. Lee, M. Shmela, L. Faivre, J. Weill, S. Odent, S. Azzi, P. Callier, J. Lucas, C. Dubourg, J. Andrieux, Y. Le Bouc, A. El-Osta, C. Gicquel. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat 2011;32:1171-82.
  • L. de Pontual, E. Yao, P. Callier, L. Faivre, V. Drouin, S. Cariou, A. Van Haeringen, D. Geneviève, A. Goldenberg, M. Oufadem, S. Manouvrier, A. Munnich, M. Vekemans, S. Lyonnet, A. Henrion-Caude, A. Ventura, J. Amiel. Germline loss of function mutations of the oncogenic miR-17~92 cluster in Feingold Syndrome. Nat Genet 2011;43:1026-30.
  • P.B. Daniel, T. Morgan, Y. Alanay, E. Bijlsma, T.J. Cho, T. Cole, F. Collins, A. David, K. Devriendt, L. Faivre, S. Ikegawa, S. Jacquemont, M. Jesic, D. Krakow, D. Liebrecht, S. Maitz, S. Marlin, G. Morin, T. Nishikubo, G. Nishimura, T. Prescott, G. Scarano, Y. Shafeghati, F. Skovby, S. Tsutsumi, M. Whiteford, M. Zenker, S.P. Robertson. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity. Hum Mutat. 2011 Dec 20. doi: 10.1002/humu.22012.
  • A.L. Mosca, S. Bouquillon, L. Faivre, P. Callier, J. Andrieux, N. Marle, C. Bonnet, C.V. Delorme, M. Berri, G. Plessis, S. Manouvrier-Hanu, C. Thauvin-Robinet, E. Pipiras, A. Delahaye, M. Payet, C. Ragon, A. Masurel-Paulet, E. Questiaux, B. Benzacken, P. Jonveaux, F. Mugneret, M. Holder-Espinasse. What can we learn from old microdeletion syndrome using Array-CGH screening ? Clin Genet 2011 Jul 1. doi: 10.1111/j.1399-0004.2011.01747.x.
  • AL. Mosca, L. Pinson, J. Andrieux, S. Pigeonnat, N. Marle, T. Rousseau, S. Couvreur, C. Thauvin-Robinet, A. Masurel-Paulet, N. Laurent, P. Sagot, F. Mugneret, L. Faivre, P. Callier. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 by prenatal array-CGH. Prenat Diag 2011 Jun 27. doi: 10.1002/pd.2793.
  • J. Piard, M. Holder, B. Aral, L. Faivre, P. Callier, N. Gigot, M. Payet, C. Ragon, M. Tardieu, E. Puzenat, A. Goldenberg, A. Toutain, J. Franques, K. MacDermot, D. Bessis, M. Rio, L. Van Maldergem, O. Boute, F. Huet, P. Vabres, C. Thauvin-Robinet. Search for neutropenia should be part of the first screening in patients with poikiloderma. Eur J Med Genet, 2011 Aug 18. [Epub ahead of print].
  • S. Benko, CT. Gordon, D. Mallet, R. Sreenivasan, C. Thauvin-Robinet, A. Brendehaug, S. Thomas, O. Bruland, M. David, M. Nicolino, A. Labalme, D. Sanlaville, P. Callier, V. Malan, F. Huet, A. Molven, F. Digoud, A. Munnich, L. Faivre, J. Amiel, V. Harley, G. Houge, Y. Morel, S. Lyonnet. Human sex determination depends on a highly conserved long-distance enhancer of SOX9 disrupted in disorders of sex development. J Med Genet, 2011;48:825-30.
  • E. Pasmant, A. Sabbagh, J. Masliah-Planchon, N. Ortonne, J. Laurendeau, L. Melin, S. Ferkal, L. Hernandez, K. Leroy, L. Valeyrie-Allanore, B. Parfait, D. Vidaud, I. Bièche, L. Lantieri, P. Wolkenstein, M. Vidaud; NF France Network (L. Faivre). Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. J Natl Cancer Inst. 2011 ;103:1713-22.
  • O. Gribouval, V. Morinière, A. Pawtowski, C. Arrondel, S.L. Sallinen, C. Saloranta, C. Clericuzio, G. Viot, J. Tantau, S. Blesson, S. Cloarec, M.C. Machet, D. Chitayat, C. Thauvin, N. Laurent, J.R. Sampson, J.A. Bernstein, A. Clemenson, F. Prieur, L. Daniel, A. Levy-Mozziconacci, K. Lachlan, J.L. Alessandri, F. Cartault, J.P. Rivière, N. Picard, C. Baumann, A.L. Delezoide, M.B. Ortega, N. Chassaing, P. Labrune, S. Yu, H. Firth, D. Wellesley, M. Bitzan, A. Alfares, N. Braverman, L. Krogh, J. Tolmie, H. Gaspar, B. Doray, S. Majore, D. Bonneau, S. Triau, C. Loirat, A. David, D. Bartholdi, A. Peleg, D. Brackman, R. Stone, R. Deberardinis, P. Corvol, A. Michaud, C. Antignac, M.C. Gubler. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat 2011;33:316-26.
  • M.A. Salih, K.K. Abu-Amero, S. Alrasheed, I.A. Alorainy, L. Liu, J.A. McGrath, L. Van Maldergem, Y.H. Al-Faky, A.H. AlSuhaibani, D.T. Oystreck, T.M. Bosley. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet 2011;12:31.
  • P. Kuentz, A. Bailly, A.C. Faure, O. Blagosklonov, C. Amiot, J.L. Bresson, C. Roux. Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple. Fertil Steril 2011;96:e35-8..
  • S. Saidi, F. Bouri, P. Lencel, L. Duplomb, M. Baud'huin, S. Delplace, D. Leterme, F. Miellot, D. Heymann, P. Hardouin, G. Palmer, D. Magne. IL-33 is expressed in human osteoblasts, but has no direct effect on bone remodeling. Cytokine 2011;53:347-54.
  • M. Baud'huin, C. Ruiz-Velasco, G. Jego, C. Charrier, N. Gasiunas, J. Gallagher, M. Maillasson, A. Naggi, M. Padrines, F. Redini, L. Duplomb, D. Heymann. Glycosaminoglycans inhibit the adherence and the spreading of osteoclasts and their precursors: role in osteoclastogenesis and bone resorption. Eur J Cell Biol 2011;90:49-57.
  • K. Snape, S. Hanks, E. Ruark, P. Barros-Núñez, A. Elliott, A. Murray, A.H. Lane, N. Shannon, P. Callier, D. Chitayat, J. Clayton-Smith, D.R. Fitzpatrick, D. Gisselsson, S. Jacquemont, K. Asakura-Hay, M.A. Micale, J. Tolmie, P.D. Turnpenny, M. Wright, J. Douglas, N. Rahman. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet 2011;43:527-9.
  • I. Okamoto, C. Patrat, D. Thépot, N. Peynot, P. Fauque, N. Daniel, P. Diabangouaya, J.P. Wolf, J.P. Renard, V. Duranthon, E. Heard. Eutherian mammals use diverse strategies to initiate X-chromosome inactivation during development. Nature 2011;472:370-4. Erratum in: Nature 2011;474:239-40.
  • M. Saint-Jean, C. Léauté-Labrèze, J. Mazereeuw-Hautier, N. Bodak, D. Hamel-Teillac, I. Kupfer-Bessaguet, J.P. Lacour, M. Naouri, P. Vabres, S. Hadj-Rabia, J.M. Nguyen, J.F. Stalder, S. Barbarot; Groupe de Recherche Clinique en Dermatologie Pédiatrique. Propranolol for treatment of ulcerated infantile hemangiomas. J Am Acad Dermatol 2011;64:827-32.
  • L. Sillard, C. Léauté-Labreze, J. Mazereeuw-Hautier, V. Viseux, S. Barbarot, P. Vabres, D. Bessis, L. Martin, G. Lorette, F. Berthier, J.P. Lacour. Medial fronto-facial capillary malformations. J Pediatr 2011;158:836-41.
  • 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. [Epub ahead of print].