Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator von Lumaka, A., Cosemans, N., Lulebo Mampasi, A., Mubungu, G., Mvuama, N., Lubala, T., Mbuyi‐Musanzayi, S., Breckpot, J., Holvoet, M., de Ravel, T., Van Buggenhout, G., Peeters, H., Donnai, D., Mutesa, L., Verloes, A., Lukusa Tshilobo, P., Devriendt, K.

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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis von Lefebvre, M., Duffourd, Y., Jouan, T., Poe, C., Jean‐Marçais, N., Verloes, A., St‐Onge, J., Riviere, J.‐B., Petit, F., Pierquin, G., Demeer, B., Callier, P., Thauvin‐Robinet, C., Faivre, L., Thevenon, J.

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Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients von Bessis, D., Morice‐Picard, F., Bourrat, E., Abadie, C., Aouinti, S., Baumann, C., Best, M., Bursztejn, A.‐C., Capri, Y., Chiaverini, C., Coubes, C., Giuliano, F., Hadj‐Rabia, S., Jacquemont, M.‐L., Lacombe, D., Lyonnet, S., Mallet, S., Mazereeuw‐Hautier, J., Miquel, J., Molinari, N., Parfait, B., Pernet, C., Philip, N., Pinson, L., Pouvreau, N., Vial, Y., Sarda, P., Sigaudy, S., Verloes, A., Cavé, H., Geneviève, D.

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The role of methylation, DNA polymorphisms and microRNAs on HLA-G expression in human embryonic stem cells von Verloes, A., Spits, C., Vercammen, M., Geens, M., LeMaoult, J., Sermon, K., Coucke, W., Van de Velde, H.

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NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder von Lévy, J., Grotto, S., Mignot, C., Maruani, A., Delahaye‐Duriez, A., Benzacken, B., Keren, B., Haye, D., Xavier, J., Heulin, M., Charles, E., Verloes, A., Dupont, C., Pipiras, E., Tabet, A.‐C.

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Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia von Pérez, B, Mechinaud, F, Galambrun, C, Ben Romdhane, N, Isidor, B, Philip, N, Derain-Court, J, Cassinat, B, Lachenaud, J, Kaltenbach, S, Salmon, A, Désirée, C, Pereira, S, Menot, M L, Royer, N, Fenneteau, O, Baruchel, A, Chomienne, C, Verloes, A, Cavé, H

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Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations von Di Donato, N, Rump, A, Koenig, R, Der Kaloustian, V M, Halal, F, Sonntag, K, Krause, C, Hackmann, K, Hahn, G, Schrock, E, Verloes, A

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Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation von Bessis, D., Miquel, J., Bourrat, E., Chiaverini, C., Morice‐Picard, F., Abadie, C., Manna, F., Baumann, C., Best, M., Blanchet, P., Bursztejn, A.‐C., Capri, Y., Coubes, C., Giuliano, F., Guillaumont, S., Hadj‐Rabia, S., Jacquemont, M.‐L., Jeandel, C., Lacombe, D., Mallet, S., Mazereeuw‐Hautier, J., Molinari, N., Pallure, V., Pernet, C., Philip, N., Pinson, L., Sarda, P., Sigaudy, S., Vial, Y., Willems, M., Geneviève, D., Verloes, A., Cavé, H.

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EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder von Lévy, J., Haye, D., Marziliano, N., Casu, G., Guimiot, F., Dupont, C., Teissier, N., Benzacken, B., Gressens, P., Pipiras, E., Verloes, A., Tabet, A.‐C.

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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting von Soilly, A L, Robert-Viard, C, Besse, C, Bruel, A L, Gerard, B, Boland, A, Piton, A, Duffourd, Y, Muller, J, Poë, C, Jouan, T, El Doueiri, S, Faivre, L, Bacq-Daian, D, Isidor, B, Genevieve, D, Odent, S, Philip, N, Doco-Fenzy, M, Lacombe, D, Asensio, M L, Deleuze, J F, Binquet, C, Thauvin-Robinet, C, Lejeune, C

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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease von Muller, Jean, Stoetzel, C, Vincent, M. C, Leitch, C. C, Laurier, V, Danse, J. M, Hellé, S, Marion, V, Bennouna-Greene, V, Vicaire, S, Megarbane, A, Kaplan, J, Drouin-Garraud, V, Hamdani, M, Sigaudy, S, Francannet, C, Roume, J, Bitoun, P, Goldenberg, A, Philip, N, Odent, S, Green, J, Cossée, M, Davis, E. E, Katsanis, N, Bonneau, D, Verloes, A, Poch, O, Mandel, J. L, Dollfus, H

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) von Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A

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Updated diagnostic criteria for CHARGE syndrome: A proposal von Verloes, Alain

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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome von Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A.D.C., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., de Die-Smulders, C.E., Gardeitchik, T., van Putten, W.K., Perez, M.J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., Edery, P.

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Fetal phenotypes in otopalatodigital spectrum disorders von Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E., Hubert, C., Deves, S., Pilliod, J., Rooryck, C., Abel, C., Le Breton, F., Collardeau-Frachon, S., Cordier, M.P., Delezoide, A.L., Goldenberg, A., Loget, P., Melki, J., Odent, S., Patrier, S., Verloes, A., Viot, G., Blesson, S., Bessières, B., Lacombe, D., Arveiler, B., Goizet, C., Fergelot, P.

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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations von PASSEMARD, S, TITOMANLIO, L, GUIMIOT, F, HYON, C, ISIDOR, B, MEGARBANE, A, MOOG, U, ODENT, S, HERNANDEZ, K, POUVREAU, N, SCALA, I, SCHAER, M, ELMALEH, M, GRESSENS, P, GERARD, B, VERLOES, A, AFENJAR, A, ALESSANDRI, J.-L, ANDRIA, G, BILLETTE DE VILLEMEUR, T, BOESPFLUG-TANGUY, O, BURGLEN, L, DEL GIUDICE, E

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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families von Willems, M, Geneviève, D, Borck, G, Baumann, C, Baujat, G, Bieth, E, Edery, P, Farra, C, Gerard, M, Héron, D, Leheup, B, Le Merrer, M, Lyonnet, S, Martin-Coignard, D, Mathieu, M, Thauvin-Robinet, C, Verloes, A, Colleaux, L, Munnich, A, Cormier-Daire, V

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Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification von Germanaud, D., Lefèvre, J., Fischer, C., Bintner, M., Curie, A., des Portes, V., Eliez, S., Elmaleh-Bergès, M., Lamblin, D., Passemard, S., Operto, G., Schaer, M., Verloes, A., Toro, R., Mangin, J.F., Hertz-Pannier, L.

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene von Schwartz, Charles E, Tarpey, Patrick S, Lubs, Herbert A, Verloes, Alain, May, Melanie M, Risheg, Hiba, Friez, Michael J, Futreal, P Andrew, Edkins, Sarah, Teague, Jon, Briault, Sylvain, Skinner, Cindy, Bauer-Carlin, Astrid, Simensen, Richard J, Joseph, Sumy M, Jones, Julie R, Gecz, Josef, Stratton, Michael R, Raymond, F Lucy, Stevenson, Roger E

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases von Kerr, B, Delrue, M-A, Sigaudy, S, Perveen, R, Marche, M, Burgelin, I, Stef, M, Tang, B, Eden, O B, O’Sullivan, J, De Sandre-Giovannoli, A, Reardon, W, Brewer, C, Bennett, C, Quarell, O, M’Cann, E, Donnai, D, Stewart, F, Hennekam, R, Cavé, H, Verloes, A, Philip, N, Lacombe, D, Levy, N, Arveiler, B, Black, G

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