Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
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.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis
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.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients
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.
Published in British journal of dermatology (1951) (01.01.2019)
Published in British journal of dermatology (1951) (01.01.2019)
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The role of methylation, DNA polymorphisms and microRNAs on HLA-G expression in human embryonic stem cells
Verloes, A., Spits, C., Vercammen, M., Geens, M., LeMaoult, J., Sermon, K., Coucke, W., Van de Velde, H.
Published in Stem cell research (01.03.2017)
Published in Stem cell research (01.03.2017)
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Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations
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
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
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NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder
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.
Published in Clinical genetics (01.08.2018)
Published in Clinical genetics (01.08.2018)
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EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder
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.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
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.
Published in British journal of dermatology (1951) (01.06.2019)
Published in British journal of dermatology (1951) (01.06.2019)
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Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia
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
Published in Journal of medical genetics (01.10.2010)
Published in Journal of medical genetics (01.10.2010)
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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
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
Published in BMC health services research (21.04.2023)
Published in BMC health services research (21.04.2023)
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
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
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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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
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
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
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Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification
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.
Published in NeuroImage (Orlando, Fla.) (15.11.2014)
Published in NeuroImage (Orlando, Fla.) (15.11.2014)
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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome
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.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
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Fetal phenotypes in otopalatodigital spectrum disorders
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.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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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
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
Published in Human genetics (01.05.2010)
Published in Human genetics (01.05.2010)
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Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
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
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Dermatological manifestations in Noonan syndrome
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., Genevievé, D., Verloes, A., Cavé, H.
Published in British journal of dermatology (1951) (01.06.2019)
Published in British journal of dermatology (1951) (01.06.2019)
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Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations
Passemard, S, Titomanlio, L, Elmaleh, M, Afenjar, A, Alessandri, J-L, Andria, G, de Villemeur, T Billette, Boespflug-Tanguy, O, Burglen, L, Del Giudice, E, Guimiot, F, Hyon, C, Isidor, B, Mégarbané, A, Moog, U, Odent, S, Hernandez, K, Pouvreau, N, Scala, I, Schaer, M, Gressens, P, Gerard, B, Verloes, Alain
Published in Neurology (22.09.2009)
Published in Neurology (22.09.2009)
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