Publications 2012 [GAD]

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

  • J. Vogt, NV. Morgan, P. Rehal, L. Faivre, LA. Brueton, K. Becker, JP. Fryns, S. Holder, L. Islam, E. Kivuva, SA. Lynch, R. Touraine, LC. Wilson, F. MacDonald, ER Maher. CHRNG Genotype Phenotype Correlations in the Multiple Pterygium syndromes. J Med Genet 2012;49:21-6. 
  • A. Delahaye, P. Bitoun, S. Drunat, M. Gérard-Blanluet, N. Chassaing, A. Toutain, A. Verloes, X. Gatelais, M. Legendre, L. Faivre, S. Passemard, A. Aboura, S. Kaltenbach, S. Quentin, C. Dupont, AC. Tabet, S. Amselem, J. Elion, P. Gressens, E. Pipiras, B. Benzacken. High frequency of genomic imbalances detected by array-CGH in patients with syndromic developmental eye anomalies. Eur J Hum Genet 2012;20:527-33.. 
  • C. Bonnet, A. Masurel-Paulet, A. Ali Khan, M. Béri-Dexheimer, P. Callier, F. Mugneret, C. Philippe, C. Thauvin-Robinet, L. Faivre, P. Jonveaux. Exploring the potential role of disease-causing mutation in a gene desert: duplication of non-coding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability. Hum Mut 2012;33:355-8. 
  • S. Whalen, D. Héron, T. Gaillon, O. Moldovan, M. Rossi, F. Devillard, F. Giuliano, G. Soares, M. Mathieu-Dramard, A. Afenjar, P. Charles, C. Mignot, L. Burglen, L. Van Maldergem, J. Piard, S. Aftimos, G. Mancini, P. Dias, N. Philip, A. Goldenberg, M. Le Merrer, M. Rio, D. Josifova, J.M. Van Hagen, D. Lacombe, P. Edery, S. Dupuis-Girod, A. Putoux, D. Sanlaville, R. Fischer, L. Drévillon, A. Briand-Suleau, C. Metay, M. Goossens, J. Amiel, A. Jacquette, I. Giurgea. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat 2012;33:64-72. 
  • L. Faivre, G. Collod-Beroud, L. Adès, E. Arbustini, A. Child, B. Loeys, C. Binquet, E. Gautier, K. Mayer, M. Arslan-Krichner, M. Grasso, C. Beroud, D. Hamroun, C. Bonithon-Kopp, H. Plauchu, PN. Robinson, J. De Backer, P. Coucke, U. Francke, O. Bouchot, JE. Wolf, C. Stheneur, N. Hanna, D. Detaint, A. De Paepe, C. Boileau, G. Jondeau G. The new Ghent criteria: What do they change? Clin Genet 2012;81(5):433-42. 
  • J. Piard, M. Holder-Espinasse, B. Aral, N. Gigot, M. Rio, M. Tardieu, E. Puzenat,A. Goldenberg, A. Toutain, J. Franques, K. Macdermot, D. Bessis, O. Boute, P. Callier, L. Gueneau, F. Huet, P. Vabres, B. Catteau, L. Faivre, C. Thauvin-Robinet. Systematic search for neutropenia should be part of the first screening in patients with poikiloderma. Eur J Med Genet, 2012;55:8-11. 
  • E. Lopez, P. Callier, V. Cormier-Daire, D. Lacombe, A. Moncla, A Bottani, S. Lambert, A. Goldenberg, B. Doray, L. Van Maldergem, D. Sanlaville, L. Gueneau, B. Aral, C. Thauvin-Robinet, L. Faivre. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q14.3q21.1. Am J Med Genet, 2012;158A:333-9. 
  • C. Thauvin-Robinet, S. Drunat, P. Saugier-Veber, V.Cusin, M. Cossée, A. Reeber, C. Cassini, P. Soichot, A. Masurel-Paulet, J.V. De Monléon, P. Sagot, F. Huet, L. Faivre, B. Gérard and the French Network of Molecular geneticist in neuromuscular disorder. Homozygous SMN1 exon 1-6 deletion: pitfalls in the diagnosis and genetic counselling in Spinal Muscular Atrophy. Am J Med Genet A 2012;158A:1735-41. 
  • J. Thevenon, E. Lopez, B. Keren, D. Heron, C. Mignot, C. Altuzara, M. Béri-Dexheimer, C. Bonnet, E. Magnin, L. Burglen, D. Minot, J. Vigneron, S. Morle, M. Anheim, P. Charles, A. Brice, L. Gallagher, J. Amiel, E. Haffen, C. Mach, C. Depienne, D. Doummar, M. Bonnet, L. Duplomb, V. Carmignac, P. Callier, A.L. Mosca-Boidron, V. Roze, B. Aral, F. Razavi, P. Jonveaux, L. Faivre,C. Thauvin-Robinet. Clinical spectrum of intragenic CAMTA1 rearrangements: From non- progressive congenital ataxia to intellectual disability. J Med Genet 2012;49:400-8. 
  • C. Patrat, A. Kaffel, L. Delaroche, J. Guibert, P. Jouannet, S. Epelboin, D. De Ziegler, J.P. Wolf, P. Fauque. Optimal timing for oocyte denudation and intracytoplasmic sperm injection. Obstet Gynecol Int 2012;2012:403531. 
  • J.C. Pont, C. Patrat, P. Fauque, M.L. Camp, V. Gayet, J.P. Wolf. [Pre-washing catheter dramatically improves the post intrauterine insemination pregnancy rate]. Gynecol Obstet Fertil 2012;40:356-9. 
  • S. Thomas, M. Legendre, S. Saunier, B. Bessières, C. Alby, M. Bonnière, A. Toutain, L. Loeuillet, K. Szymanska, F. Jossic, D. Gaillard, M.T. Yacoubi, S. Mougou-Zerelli, A. David, M.A. Barthez, Y. Ville, C. Bole-Feysot, P. Nitschke, S. Lyonnet, A. Munnich, C.A. Johnson, F. Encha-Razavi, V. Cormier-Daire, C. Thauvin-Robinet, M. Vekemans, T. Attié-Bitach. TCTN3 Mutations Cause Mohr-Majewski Syndrome. Am J Hum Genet 2012;91:372-8.
  • F. Zufferey, E.H Sherr, N.D. Beckmann, E. Hanson, A.M. Maillard, L. Hippolyte, A. Macé, C. Ferrari, Z. Kutalik, J. Andrieux, E. Aylward, M. Barker, R. Bernier, S. Bouquillon, P. Conus, B. Delobel, W.A. Faucett, R.P. Goin-Kochel, E. Grant, L. Harewood, J.V. Hunter, S. Lebon, D.H. Ledbetter, C.L. Martin, K. Männik, D. Martinet, P. Mukherjee, M.B. Ramocki, S.J. Spence, K.J. Steinman, J. Tjernagel, J.E.Spiro, A. Reymond, J.S. Beckmann, W.K. Chung, S. Jacquemont, Simons VIP Consortium, 16p11.2 European Consortium (L. Faivre, P. Callier). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 2012;49:660-8.
  • J.B. Courcet, L. Faivre, P. Malzac, A. Masurel-Paulet, P. Callier, L. Lambert, M. Lemesle, E. Lopez, J. Thevenon, N. Gigot, L. Jego, C. Ragon, N. Marle, A.L. Mosca-Boidron, F. Huet, C. Philippe, A. Moncla, C. Thauvin-Robinet.The DYRK1A gene is a cause of Angelman-like syndrome with severe microcephaly. J Med Genet 2012;49:731-6. 
  • A. Putoux, S. Nampoothiri, N. Laurent, V. Cormier-Daire, P.L. Beales, A. Schinzel, D. Barthoisi, C. Alby, S. Thomas, N. Elkhartoufi, A. Ichkou, J. Litzler, A. Munnich, F. Encha-Razavi, R. Jannan, L. Faivre, N. Boddaert, A. Rauch, M. Vekemans, T. Attié-Bitach. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosum syndrome. J Med Genet 2012;49:713-20.
  • V. Carmignac, J. Thevenon, L. Adès, B. Callewaert, S. Julia, C. Thauvin-Robinet, L. Gueneau, JB. Courcet, E. Lopez, K. Holman, M. Renard, H. Plauchu, G. Plessis, J. De Backer, A. Child, G. Arno, L. Duplomb, P. Callier, B. Aral, P. Vabres, N. Gigot, E. Arbustini, M. Grasso, PN. Robinson, C. Goizet, C. Baumann, M. Di Rocco, J. Sanchez Del Pozo, F. Huet, G. Jondeau, G. Collod-Beroud, C. Beroud, J. Amiel, V. Cormier-Daire, JB. Rivière, C. Boileau, A. De Paepe, L. Faivre. Am J Hum Genet 2012;91:950-7.
  • P. Vabres. [A hypothesis on the pathogeny of rounded and linear epidermal nevi (nevoid acanthosis nigricans)]. Ann Dermatol Venereol 2012;139:177-9. 
  • F. Huet, C. Bensignor, M. Polak, J.C. Carel. [Results of early growth hormone treatment in children with hypopituitarism]. Bull Acad Natl Med 2012;196:117-23.
  • F. Coron, T. Rousseau, G. Jondeau, E. Gautier, C. Binquet, L. Gouya, V. Cusin, S. Odent, Y. Dulac, H. Plauchu, P. Collignon, M.A. Delrue, B. Leheup, L. Joly, F. Huet, J. Thevenon, G. Mace, C. Cassini, C. Thauvin-Robinet, J.E. Wolf, N. Hanna, P. Sagot, C. Boileau, L. Faivre. What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome? Prenat Diagn 2012;32:1318-23.
  • Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012;131:1761-73. 
  • Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Mönnich M, Yan Y, Xu W, Gil-Rodríguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Lüdecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ. RAD21 mutations cause a human cohesinopathy. Am J Hum Genet 2012;90:1014-27.
  • Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance; Eur J Hum Genet 2012;20:1024-31. 
  • Piard J, Verloes A, Cavé H, Peuchmaur M, Bennaceur S, Leheup B. Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines). Am J Med Genet A 2012;158A(6):1406-10. 
  • Ramanah R, Martin A, Guigue V, Arbez-Gindre F, Piard J, Terrosi P, Alanio E, Favre R, Gaillard D, Riethmuller D. Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis. Ultrasound Obstet Gynecol 2012;40:724-5. 
  • J. Piard, C. Collet, F. Arbez-Gindre, A. Nirhy-Lanto, L. Van Maldergem. Coronal craniosynostosis and radial ray hypoplasia: A third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia. Eur J Med Genet 2012;55:719-22