Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders von Jacquemont, M-L, Sanlaville, D, Redon, R, Raoul, O, Cormier-Daire, V, Lyonnet, S, Amiel, J, Le Merrer, M, Heron, D, de Blois, M-C, Prieur, M, Vekemans, M, Carter, N P, Munnich, A, Colleaux, L, Philippe, A

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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia von Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

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Detection of severe hemophilia A during neonatal screening von Boumahni, B, Jacquemont, M-L, Stoven, C

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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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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy von Leroy, C., Jacquemont, M.-L., Doray, B., Lamblin, D., Cormier-Daire, V., Philippe, A., Nusbaum, S., Patrat, C., Steffann, J., Colleaux, L., Vekemans, M., Romana, S., Turleau, C., Malan, V.

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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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Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, s... von Luu, M., Vabres, P., Devilliers, H., Loffroy, R., Phan, A., Martin, L., Morice-Picard, F., Petit, F., Willems, M., Bessis, D., Jacquemont, M. L., Maruani, A., Chiaverini, C., Mirault, T., Clayton-Smith, J., Carpentier, M., Fleck, C., Maurer, A., Yousfi, M., Parker, V. E. R., Semple, R. K., Bardou, M., Faivre, L.

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A Comparative Study of Maize and Miscanthus Regarding Cell-Wall Composition and Stem Anatomy for Conversion into Bioethanol and Polymer Composites von Brancourt-Hulmel, M., Arnoult, S., Cézard, L., El Hage, F., Gineau, E., Girones, J., Griveau, Y., Jacquemont, M.-P., Jaffuel, S., Mignot, E., Mouille, G., Lapierre, C., Legée, F., Méchin, V., Navard, P., Vo, L.T.T., Reymond, M.

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WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis von Zhang, H., Koruyucu, M., Seymen, F., Kasimoglu, Y., Kim, J.-W., Tinawi, S., Zhang, C., Jacquemont, M.L., Vieira, A.R., Simmer, J.P., Hu, J.C.C.

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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations von Lehman, N., Mazery, A.C., Visier, A., Baumann, C., Lachesnais, D., Capri, Y., Toutain, A., Odent, S., Mikaty, M., Goizet, C., Taupiac, E., Jacquemont, M.L., Sanchez, E., Schaefer, E., Gatinois, V., Faivre, L., Minot, D., Kayirangwa, H., Sang, K.‐H.L.Q., Boddaert, N., Bayard, S., Lacombe, D., Moutton, S., Touitou, I., Rio, M., Amiel, J., Lyonnet, S., Sanlaville, D., Picot, M.C., Geneviève, D.

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A genome-wide DNA methylation signature for SETD1B-related syndrome von Krzyzewska, I M, Maas, S M, Henneman, P, Lip, K V D, Venema, A, Baranano, K, Chassevent, A, Aref-Eshghi, E, van Essen, A J, Fukuda, T, Ikeda, H, Jacquemont, M, Kim, H-G, Labalme, A, Lewis, S M E, Lesca, G, Madrigal, I, Mahida, S, Matsumoto, N, Rabionet, R, Rajcan-Separovic, E, Qiao, Y, Sadikovic, B, Saitsu, H, Sweetser, D A, Alders, M, Mannens, M M A M

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Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review von Rhamati, L., Marcolla, A., Guerrot, A.M., Lerosey, Y., Goldenberg, A., Serey-Gaut, M., Rio, M., Cormier Daire, V., Baujat, G., Lyonnet, S., Rubinato, E., Jonard, L., Rondeau, S., Rouillon, I., Couloignier, V., Jacquemont, M.L., Dupin Deguine, D., Moutton, S., Vincent, M., Isidor, B., Ziegler, A., Marie, J.P., Marlin, S.

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Simultaneous determination of tryptophan and kynurenine in serum by HPLC with UV and fluorescence detection von Vignau, J., Jacquemont, M.-C., Lefort, A., Imbenotte, M., Lhermitte, M.

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Troubles de la déglutition chez une fillette de deux ans atteinte d’un syndrome de Kabuki von Gargouri, L., Martinez-Vinson, C., Ackermann, O., Jacquemont, M.-L., Viala, J., Bellaiche, M., Hugot, J.-P., Cézard, J.-P.

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Découverte d’une hémophilie A sévère lors du test de dépistage néonatal von Boumahni, B., Jacquemont, M.-L., Stoven, C.

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Dermatological manifestations in Noonan syndrome 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., Genevievé, D., Verloes, A., Cavé, H.

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Dermatological manifestations in cardiofaciocutaneous syndrome 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., Geneviéve, D.

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心脸皮肤综合症中的皮肤表现 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., Geneviéve, D.

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PELVIS/SACRAL syndrome avec hémangiome livédoïde et bride amniotique von Bourrat, E., Lemarchand-Venencie, F., Jacquemont, M.-L., El Ghoneimi, A., Wassef, M., Leger, J., Morel, P.

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GM3 synthase deficiency in non-Amish patients von Heide, Solveig, Jacquemont, Marie-Line, Cheillan, David, Renouil, Michel, Tallot, Marilyn, Schwartz, Charles E., Miquel, Juliette, Bintner, Marc, Rodriguez, Diana, Darcel, Françoise, Buratti, Julien, Haye, Damien, Passemard, Sandrine, Gras, Domitille, Perrin, Laurence, Capri, Yline, Gérard, Bénédicte, Piton, Amélie, Keren, Boris, Thauvin-Robinet, Christel, Duffourd, Yannis, Faivre, Laurence, Poe, Charlotte, Pervillé, Anne, Héron, Delphine, Thévenon, Julien, Arnaud, Lionel, LeGuern, Eric, La Selva, Lorita, Vetro, Annalisa, Guerrini, Renzo, Nava, Caroline, Mignot, Cyril

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