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321 results on '"Messiaen, L."'

1. Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

Author

Steklov, M., Pandolfi, S., Baietti, M. F., Batiuk, A., Carai, P., Najm, P., Zhang, M., Jang, H., Renzi, F., Cai, Y., Asbagh, L. Abbasi, Pastor, T., De Troyer, M., Simicek, M., Radaelli, E., Brems, H., Legius, E., Tavernier, J., Gevaert, K., Impens, F., Messiaen, L., Nussinov, R., Heymans, S., Eyckerman, S., and Sablina, A. A.

Published
2018

5. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-Phenotype correlation

Author

Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Biervliet, J.P. Van, Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., and Messiaen, L.

Subjects
Neurofibroma -- Research, Neurofibromatosis -- Research, Chromosome deletion -- Research, Biological sciences
Abstract

A Study provides molecular evidence implicating the role of a specific 3-bp inframe deletion of the neurofibromatosis type 1 (NF1) gene in the determination of a clinical phenotype such as development of cutaneous, subcutaneous and superficial plexiform neurofibromas. Molecular analysis led to the identification of the same 3-bp inframe deletion (c.2970-2972 delAAT) in exon 17 of the NF1 gene in all affected subjects.

Published
2007

16. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

Author

Suerink, M., Ripperger, T., Messiaen, L., Menko, F.H., Bourdeaut, F., Colas, C., Jongmans, M., Goldberg, Y., Nielsen, M., Muleris, M., Kouwen, M.C.A. van, Slavc, I., Kratz, C., Vasen, H.F., Brugires, L., Legius, E., Wimmer, K., Suerink, M., Ripperger, T., Messiaen, L., Menko, F.H., Bourdeaut, F., Colas, C., Jongmans, M., Goldberg, Y., Nielsen, M., Muleris, M., Kouwen, M.C.A. van, Slavc, I., Kratz, C., Vasen, H.F., Brugires, L., Legius, E., and Wimmer, K.

Abstract

Item does not contain fulltext, Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome caused by biallelic germline mutations in one of four mismatch-repair genes. Besides very high tumour risks, CMMRD phenotypes are often characterised by the presence of signs reminiscent of neurofibromatosis type 1 (NF1). Because NF1 signs may be present prior to tumour onset, CMMRD is a legitimate differential diagnosis in an otherwise healthy child suspected to have NF1/Legius syndrome without a detectable underlying NF1/SPRED1 germline mutation. However, no guidelines indicate when to counsel and test for CMMRD in this setting. Assuming that CMMRD is rare in these patients and that expected benefits of identifying CMMRD prior to tumour onset should outweigh potential harms associated with CMMRD counselling and testing in this setting, we aimed at elaborating a strategy to preselect, among children suspected to have NF1/Legius syndrome without a causative NF1/SPRED1 mutation and no overt malignancy, those children who have a higher probability of having CMMRD. At an interdisciplinary workshop, we discussed estimations of the frequency of CMMRD as a differential diagnosis of NF1 and potential benefits and harms of CMMRD counselling and testing in a healthy child with no malignancy. Preselection criteria and strategies for counselling and testing were developed and reviewed in two rounds of critical revisions. Existing diagnostic CMMRD criteria were adapted to serve as a guideline as to when to consider CMMRD as differential diagnosis of NF1/Legius syndrome. In addition, counselling and testing strategies are suggested to minimise potential harms.

Published
2019

19. Evolution and expression of FOXL2

Author

Cocquet, J, Pailhoux, E, Jaubert, F, Servel, N, Xia, X, Pannetier, M, De Baere, E, Messiaen, L, Cotinot, C, Fellous, M, and Veitia, R A

Published
2002

28. Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Author

De Baere, E., Dixon, M., Small, K., Jabs, E., Leroy, B., Devriendt, K., Gillerot, Y., Mortier, G., Meire, F., Van Maldergem, L., Hjalgrim, H., Huang, S., Liebaers, I., De Paepe, A., Fellous, M., Veitia, R., and Messiaen, L.

Subjects
Gene mutations -- Research, Blepharoptosis -- Genetic aspects, Genital diseases, Female -- Genetic aspects, Genetic transcription -- Research, Genetic disorders -- Research, Biological sciences
Published
2001

33. The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach

Author

Korf, B. (Bruce), Ahmadian, R. (Reza), Allanson, J.E. (Judith), Aoki, Y. (Yoko), Bakker, A. (Annette), Wright, E.B. (Emma Burkitt), Denger, B. (Brian), Elgersma, Y. (Ype), Gelb, B.D. (Bruce), Gripp, K.W. (Karen), Kerr, B. (Bronwyn), Kontaridis, M. (Maria), Lázaro, C. (Conxi), Linardic, C. (Corinne), Lozano, R. (Reymundo), MacRae, C.A. (Calum), Messiaen, L. (Ludwine), Mulero-Navarro, S. (Sonia), Neel, B., Plotkin, S.R. (Scott R.), Rauen, K.A. (Katherine), Roberts, A.E., Silva, A.J. (Alcino), Sittampalam, S.G. (Sitta G.), Zhang, C. (Chao), Schoyer, L. (Lisa), Korf, B. (Bruce), Ahmadian, R. (Reza), Allanson, J.E. (Judith), Aoki, Y. (Yoko), Bakker, A. (Annette), Wright, E.B. (Emma Burkitt), Denger, B. (Brian), Elgersma, Y. (Ype), Gelb, B.D. (Bruce), Gripp, K.W. (Karen), Kerr, B. (Bronwyn), Kontaridis, M. (Maria), Lázaro, C. (Conxi), Linardic, C. (Corinne), Lozano, R. (Reymundo), MacRae, C.A. (Calum), Messiaen, L. (Ludwine), Mulero-Navarro, S. (Sonia), Neel, B., Plotkin, S.R. (Scott R.), Rauen, K.A. (Katherine), Roberts, A.E., Silva, A.J. (Alcino), Sittampalam, S.G. (Sitta G.), Zhang, C. (Chao), and Schoyer, L. (Lisa)

Published
2015
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34. Late abstracts 186–187

Author

Jaehne, J., Meyer, H. -J., Wittekind, Ch., Maschek, H., Pichlmayr, R., Jacobi, G., Weiermann, G., Vitzthum, H. Gräfin, Schwabe, D., Manegold, Ch., Krempien, B., Kaufmann, M., Bailly, M., Doré, J. -F., Fodstad, Ø., Kjønniksen, I., Brøgger, A., Flørenes, V. A., Pihl, A., Aamdal, S., Nesland, J. M., Geldof, A. A., Rao, B. R., De Giovanni, C., Lollini, P. -L., Del Re, B., Scotlandi, K., Nicoletti, G., Nanni, P., Van Muijen, G. N. P., Van Der Wiel-Miezenbeek, J. M., Cornelissen, L. M. H. A., Jansen, C. F. J., Ruiter, D. J., Kieler, J., Oda, Y., Tokuriki, Y., Tenang, E. M., Lamb, J. F., Galante, E., Zanoni, F., Galluzzi, D., Cerrotta, A., Martelli, G., Guzzon, A., Reduzzi, D., Barberá-Guillem, E., Barceló, J. R., Urcelay, B., Alonso-Varona, A. I., Vidal-Vanaclocha, F., Bassukas, I. D., Maurer-Schultze, B., Storeng, R., Manzotti, C., Pratesi, G., Schachert, G., Fidler, I. J., Grimstad, I. A., Rutt, G. Th., Riesinger, P., Frank, J., Neumann, G., Wissler, J. H., Bastert, G., Liebrich, W., Lehner, B., Gonzer, S., Schlag, P., Vehmeyer, K., Hajto, T., Gabius, H. -J., Funke, I., Schlimok, G., Bock, B., Dreps, A., Schweiberer, B., Riethmüller, G., Nicolai, U., Vykoupil, K. -F., Wolf, M., Havemann, K., Georgii, A., Bertrand, S., N'Guyen, M. -J., Siracky, J., Kysela, B., Siracka, E., Pflüger, E., Schirrmacher, V., Boyano, M. D., Hanania, N., Poupon, M. F., Sherbet, G. V., Lakshmi, M. S., Van Roy, F., Vleminckx, K., Fiers, W., Dragonetti, C., De Bruyne, G., Messiaen, L., Mareel, M., Kuhn, S., Choritz, H., Schmid, U., Bihl, H., Griesbach, A., Matzku, S., Eccles, S. A., Purvies, H. P., Miller, F. R., McEachern, D., Ponton, A., Waghorne, C., Coulombe, B., Kerbel, R. S., Breitman, M., Skup, D., Gingras, M. C., Jarolim, L., Wright, J. A., Greenberg, A. H., N'Guyen, M. J., Allavena, G., Melchiori, A., Aresu, O., Percario, M., Parodi, S., Schmidt, J., Kars, P., Chader, G., Albini, A., Zöller, M., Lissitzky, J. C., Bouzon, M., Martin, P. M., Grossi, I. M., Taylor, J. D., Honn, K. V., Koch, B., Baum, W., Giedl, J., Gabius, H. J., Kalden, J. R., Hakim, A. A., LadÁnyi, A., Timár, J., Moczar, E., Lapis, K., Müller, K., Wolf, M. F., Benz, B., Schumacher, K., Kemmner, W., Morgenthaler, J., Brossmer, R., Hagmar, B., Burns, G., Erkell§, L. J., Ryd, W., Paku, S., Rot, A., Hilario, E., Unda, F., Simón, J., Aliño, S. F., Sargent, N. S. E., Burger, M. M., Altevogt, P., Kowitz, A., Chopra, H., Bandlow, G., Nagel, G. A., Lotan, R., Carralero, D., Lotan, D., Raz, A., Skubitz, A. P. N., Koliakos, G. G., Furcht, L. T., Charonis, A. S., Hamann, A., Jablonski-Westrich, D., Jonas, P., Harder, R., Butcher, E. C., Thiele, H. G., Breillout, F., Antoine, E., Lascaux, V., Boxberger, H. -J., Paweletz, N., Bracke, M., Vyncke, B., Opdenakker, G., Castronovo, V., Foidart, J. -M., Camacho, M., Fras, A. Fabra, Llorens, A., Rutllant, M. L., Erkell, L. J., Brunner, G., Heredia, A., Imhoff, J. M., Burtin, P., Nakajima, M., Lunec, J., Parker, C., Fennelly, J. A., Smith, K., Roossien, F. F., La Rivière, G., Roos, E., Erdel, M., Trefz, G., Spiess, E., Ebert, W., Verhaegen, S., Remels, L., Verschueren, H., Dekegel, D., De Baetselier, P., Van Hecke, D., Hannecart-Pokorni, E., Falkvoll, K. H., Alonso, A., Baroja, A., Sebbag, U., Barbera-Guillem, E., Behrens, J., Mareel, M. M., Birchmeier, W., Waterhouse, P., Khokha, R., Chambers, A., Yagel, S., Lala, P. K., Denhardt, D. T., Hennes, R., Frantzen, F., Keller, R., Schwartz-Albiez, R., Fondaneche, M. C., Mignatti, P., Tsuboi, R., Robbins, E., Rifkin, D. B., Overall, C. M., Sacchi, A., Falcioni, R., Piaggio, G., Rizzo, M. G., Perrotti, N., Kennel, S. J., Girschick, H., Müller-Hermelink, H. K., Vollmers, H. P., Wenzel, A., Liu, S., Günthert, U., Wesch, V., Giles, M., Ponta, H., Herrlich, P., Stade, B., Hupke, U., Holzmann, B., Johnson, J. P., Sauer, A., Roller, E., Klumpp, B., Güttler, N., Lison, A., Walk, A., Redini, F., Moczar, M., Leoni, F., Da Dalt, M. G., Ménard, S., Canevari, S., Miotti, S., Tagliabue, E., Colnaghi, M. I., Ostmeier, H., Suter, L., Possati, L., Rosciani, C., Recanatini, E., Beatrici, V., Diambrini, M., Polito, M., Rothbächer, U., Eisenbach, L., Plaksin, D., Gelber, C., Kushtai, G., Gubbay, J., Feldman, M., Benke, R., Benedetto, A., Elia, G., Sala, A., Belardelli, F., Lehmann, J. M., Ladanyi, A., Hanisch, F. -G., Sölter, J., Jansen, V., Böhmer, G., Peter-Katalinic, J., Uhlenbruck, G., O'Connor, R., Müller, J., Kirchner, T., Bover, B., Tucker, G., Valles, A. M., Gavrilovic, J., Thiery, J. P., Kaufmann, A. M., Volm, M., Edel, G., Zühlsdorf, M., Voss, H., Wörmann, B., Hiddemann, W., De Neve, W., Van Den Berge, D., Van Loon, R., Storme, G., Zacharski, L. R., Wojtukiewicz, M. Z., Memoli, V., Kisiel, W., Kudryk, B. J., Stump, D., Piñol, G., Gonzalez-Garrigues, M., Fabra, A., Marti, F., Rueda, F., Lichtner, R. B., Khazaie, K., Timar, J., Greenzhevskaya, S. N., Shmalko, Yu. P., Hill, S. E., Rees, R. C., MacNeil, S., Millon, R., Muller, D., Eber, M., Abecassis, J., Betzler, M., Bahtsky, K. P., Umansky, V. Yu., Krivorotov, A. A., Balitskaya, E. K., Pridatko, O. E., Smelkova, M. I., Smirnov, I. M., Korczak, B., Fisher, C., Thody, A. J., Young, S. D., Hill, R. P., Frixen, U., Gopas, J., Segal, S., Hammerling, G., Bar-Eli, M., Rager-Zisman, B., Har-Vardi, I., Alon, Y., Hämmerling, G. J., Perez, M., Algarra, I., Collado, Ma. D., Peran, E., Caballero, A., Garrido, F., Turner, G. A., Blackmore, M., Stern, P. L., Thompson, S., Levin, I., Kuperman, O., Eyal, A., Kaneti, J., Notter, M., Knuth, A., Martin, M., Chauffert, B., Caignard, A., Hammann, A., Martin, F., Dearden, M. T., Pelletier, H., Dransfield, I., Jacob, G., Rogers, K., Pérez-Yarza, G., Cañavate, M. L., Lucas, R., Bouwens, L., Mantovani, G., Serri, F. G., Macciò, A., Zucca, M. V., Del Giacco, G. S., Pérez, M., Kärre, K., Apt, D., Traversari, C., Sensi, M., Carbone, G., Parmiani, G., Hainaut, P., Weynants, P., Degiovanni, G., Boon, T., Marquardt, P., Stulle, K., Wölfel, T., Herin, M., Van den Eynde, B., Klehmann, E., Büschenfelde, K. -H. Meyer zum, Samija, M., Gerenčer, M., Eljuga, D., Bašić, I., Heacock, C. S., Blake, A. M., D'Aleo, C. J., Alvarez, V. L., Gresser, I., Maury, C., Moss, J., Woodrow, D., von Ardenne, M., Krüger, W., Möller, P., Schachert, H. K., Itaya, T., Frost, P., Rodolfo, M., Salvi, C., Bassi, C., Huland, E., Huland, H., Sersa, G., Willingham, V., Hunter, N., Milas, L., Schild, H., von Hoegen, P., Mentges, B., Bätz, W., Suzuki, N., Mizukoshi, T., Sava, G., Ceschia, V., Zabucchi, G., Farkas-Himsley, H., Schaal, O., Klenner, T., Keppler, B., Alvarez-Diaz, A., Bizzari, J. P., Barbera-Guillem, F., Osterloh, B., Bartkowski, R., LÖhrke, H., Schwahn, E., Schafmayer, A., Goerttler, K., Cillo, C., Ling, V., Giavazzi, R., Vecchi, A., Luini, W., Garofalo, A., Iwakawa, M., Arundel, C., Tofilon, P., Giraldi, T., Perissin, L., Zorzet, S., Piccini, P., Pacor, S., Rapozzi, V., Fink, U., Zeuner, H., Dancygier, H., Classen, M., Lersch, C., Reuter, M., Hammer, C., Brendel, W., Mathé, G., Bourut, C., Chenu, E., Kidani, Y., Mauvernay, Y., Schally, A. V., Reizenstein, P., Gastiaburu, J., Comaru-Schally, A. M., Cupissol, D., Jasmin, C., Missot, J. L., Wingen, F., Schmähl, D., Pauwels-Vergely, C., Poupon, M. -F., Gasic, T. B., Ewaskiewicz, J. I., Gasic, G. J., Pápay, J., Mauvernay, R., Schally, A., Keiling, R., Hagipantelli, R., Busuttil, M., VoVan, M. L., Misset, J. L., Lévi, F., Musset, M., Ribaud, P., Hilgard, P., Reissmann, T., Stekar, J., Voegeli, R., Den Otter, W., Maas, H. A., Dullens, H. F. J., Merriman, R. L., Tanzer, L. R., Shackelford, K. A., Bemis, K. G., Campbell, J. B., and Matsumoto, K.

Published
1988
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35. Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

Author

Mills, J. R., Moyer, A. M., Kipp, B. R., Poplawski, A. B., Messiaen, L. M., and Babovic‐Vuksanovic, D.

Subjects
ACOUSTIC neuroma, MENINGIOMA, MOSAICISM, RARE diseases, NEUROFIBROMATOSIS 2
Abstract

A 28-year-old female with PIK3CA-related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma ( VS), as well as 3 small (<2 cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 ( NF2) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA c. 2740G>A (p. Gly914Arg) mutation, confirming the diagnosis of PIK3CA-related overgrowth, but no mutations in NF2 were detected. Although VS has not previously been reported in PIK3CA-related segmental overgrowth, meningiomas have, raising the question of whether this patient's VS and meningiomas represent coincidental NF2 or phenotypic extension of her overgrowth syndrome. Genetic analysis of the VS revealed a heterozygous NF2 mutation c. 784C>T (p. Arg262Ter) and loss of a portion of 22q, including NF2, SMARCB1, and LZTR1 genes. These results suggest that the patient has 2 different mosaic disorders, NF2 and PIK3CA-related overgrowth. The PIK3CA mutation was also present in the VS. Confirmation of the clinical diagnosis of mosaic NF2 in this patient has implications for monitoring and highlights the possibility of co-occurrence of mosaicism for multiple rare disorders in a single patient. [ABSTRACT FROM AUTHOR]

Published
2018
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37. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Author

Vogt, J. (Julia), Bengesser, K. (Kathrin), Claes, K.B.M. (Kathleen B.M.), Wimmer, K. (Katharina), Mautner, V.-F. (Victor-Felix), Minkelen, R. (Rick) van, Legius, E. (Eric), Brems, H. (Hilde), Upadhyaya, M. (Meena), Högel, J. (Josef), Lázaro, C. (Conxi), Rosenbaum, T. (Thorsten), Bammert, S. (Simone), Messiaen, L. (Ludwine), Cooper, D.N. (David), Kehrer-Sawatzki, H. (Hildegard), Vogt, J. (Julia), Bengesser, K. (Kathrin), Claes, K.B.M. (Kathleen B.M.), Wimmer, K. (Katharina), Mautner, V.-F. (Victor-Felix), Minkelen, R. (Rick) van, Legius, E. (Eric), Brems, H. (Hilde), Upadhyaya, M. (Meena), Högel, J. (Josef), Lázaro, C. (Conxi), Rosenbaum, T. (Thorsten), Bammert, S. (Simone), Messiaen, L. (Ludwine), Cooper, D.N. (David), and Kehrer-Sawatzki, H. (Hildegard)

Abstract

Background: Genomic disorders are caused by copy number changes that may exhibit recurrent breakpoints processed by nonallelic homologous recombination. However, region-specific disease-associated copy number changes have also been observed which exhibit non-recurrent breakpoints. The mechanisms underlying these non-recurrent copy number changes have not yet been fully elucidated. Results: We analyze large NF1 deletions with non-recurrent breakpoints as a model to investigate the full spectrum of causative mechanisms, and observe that they

Published
2014
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39. Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.

Author

Kalamarides, M, Acosta, MT, Babovic-Vuksanovic, D, Carpen, O, Cichowski, K, Evans, DG, Giancotti, F, Hanemann, CO, Ingram, D, Lloyd, AC, Mayes, DA, Messiaen, L, Morrison, H, North, K, Packer, R, Pan, D, Stemmer-Rachamimov, A, Upadhyaya, M, Viskochil, D, Wallace, MR, Hunter-Schaedle, K, Ratner, N, Kalamarides, M, Acosta, MT, Babovic-Vuksanovic, D, Carpen, O, Cichowski, K, Evans, DG, Giancotti, F, Hanemann, CO, Ingram, D, Lloyd, AC, Mayes, DA, Messiaen, L, Morrison, H, North, K, Packer, R, Pan, D, Stemmer-Rachamimov, A, Upadhyaya, M, Viskochil, D, Wallace, MR, Hunter-Schaedle, K, and Ratner, N

Abstract

The 2011 annual meeting of the Children's Tumor Foundation, the annual gathering of the neurofibromatosis (NF) research and clinical communities, was attended by 330 participants who discussed integration of new signaling pathways into NF research, the appreciation for NF mutations in sporadic cancers, and an expanding pre-clinical and clinical agenda. NF1, NF2, and schwannomatosis collectively affect approximately 100,000 persons in US, and result from mutations in different genes. Benign tumors of NF1 (neurofibroma and optic pathway glioma) and NF2 (schwannoma, ependymoma, and meningioma) and schwannomatosis (schwannoma) can cause significant morbidity, and there are no proven drug treatments for any form of NF. Each disorder is associated with additional manifestations causing morbidity. The research presentations described in this review covered basic science, preclinical testing, and results from clinical trials, and demonstrate the remarkable strides being taken toward understanding of and progress toward treatments for these disorders based on the close interaction among scientists and clinicians.

Published
2012

40. Gonosomal mosaicism for an NF1 deletion in a sperm donor:evidence of the need for coordinated, long-term communication of health information among relevant parties

Author

Callum, P, Messiaen, L M, Bower, P V, Skovby, F, Iger, J, Timshel, S, Sims, C A, Falk, R E, Callum, P, Messiaen, L M, Bower, P V, Skovby, F, Iger, J, Timshel, S, Sims, C A, and Falk, R E

Abstract

Screening of gamete donors can reduce but cannot eliminate the risks for medical problems in donor-conceived offspring. We present a case of gonosomal mosaicism discovered in an anonymous sperm donor after receiving two reports of neurofibromatosis type 1 (NF1) in donor-conceived offspring, to illustrate that long-term, systematic investigation of health issues in donors and offspring can be invaluable to the welfare of these individuals.

Published
2012

43. Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the automated laser fluorescent DNA sequencer

Author

Sermon, K., Lissens, W., Messiaen, L., Mary-Louise Bonduelle, Mark Vandervorst, Andre Van Steirteghem, Ingeborg Liebaers, Reproductie en Genetica, Embryologie en Menselijke Genetica, Observerende Klinische wetenschappen, Verloskunde en prenatale, CRGA - artsen, and Vrije Universiteit Brussel

Subjects
PGD, Marfan syndrome, lipids (amino acids, peptides, and proteins)
Abstract

OBJECTIVE: To develop and apply clinical preimplantation genetic diagnosis (PGD) for Marfan syndrome. DESIGN: Case report. SETTING: Centers for medical genetics and reproductive medicine in university hospitals. PATIENT(S): One couple in which the husband was affected with Marfan syndrome. INTERVENTION(S): The couple underwent three intracytoplasmic sperm injection cycles. MAIN OUTCOME MEASURE(S): The correct diagnosis was obtained for embryos in three PGD cycles. RESULT(S): Although all the PGD cycles were followed by ET, no pregnancy ensued. CONCLUSION(S): This assay can provide a reliable and accurate preimplantation diagnosis of Marfan syndrome.

Published
1999

44. Planning the Human Variome Project: The Spain Report

Author

Kaput, J, Cotton, R, Hardman, L, Watson, M, Al Aqeel, A, Al-Aama, J, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, A, Bapat, B, Bernstein, I, Bhak, J, Bleoo, S, Blocker, H, Brenner, S, Burn, J, Bustamante, M, Calone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, Y, Chung, Y, Claustres, M, Cutting, G, Dalgleish, R, den Dunnen, J, Diaz, C, Dobrowolski, S, dos Santos, M, Ekong, R, Flanagan, S, Flicek, P, Furukawa, Y, Genuardi, Maurizio, Ghang, H, Golubenko, M, Greenblatt, M, Hamosh, A, Hancock, J, Hardison, R, Harrison, T, Hoffmann, R, Horaitis, R, Howard, H, Barash, C, Izagirre, N, Jung, J, Kojima, T, Laradi, S, Lee, Y, Lee, J, Gil-da-Silva-Lopes, V, Macrae, F, Maglott, D, Marafie, M, Marsh, S, Matsubara, Y, Messiaen, L, Moslein, G, Netea, M, Norton, M, Oefner, P, Oetting, W, O'Leary, J, de Ramirez, A, Paalman, M, Parboosingh, J, Patrinos, G, Perozzi, G, Phillips, I, Povey, S, Prasad, S, Qi, M, Quinzani, Dario, Ramesar, R, Richards, C, Savige, J, Scheible, D, Scott, R, Seminara, D, Shephard, E, Sijmons, R, Smith, T, Sobrido, M, Tanaka, T, Tavtigian, S, Taylor, G, Teague, J, Topel, T, Ullman-Cullere, M, Utsunomiya, J, van Kranen, H, Vihinen, M, Webb, E, Weber, Bertram, Yeager, M, Yeom, Y, Yim, S, Yoo, H, Genuardi, M (ORCID:0000-0002-7410-8351), Quin, D, Weber, T, Kaput, J, Cotton, R, Hardman, L, Watson, M, Al Aqeel, A, Al-Aama, J, Al-Mulla, F, Alonso, S, Aretz, S, Auerbach, A, Bapat, B, Bernstein, I, Bhak, J, Bleoo, S, Blocker, H, Brenner, S, Burn, J, Bustamante, M, Calone, R, Cambon-Thomsen, A, Cargill, M, Carrera, P, Cavedon, L, Cho, Y, Chung, Y, Claustres, M, Cutting, G, Dalgleish, R, den Dunnen, J, Diaz, C, Dobrowolski, S, dos Santos, M, Ekong, R, Flanagan, S, Flicek, P, Furukawa, Y, Genuardi, Maurizio, Ghang, H, Golubenko, M, Greenblatt, M, Hamosh, A, Hancock, J, Hardison, R, Harrison, T, Hoffmann, R, Horaitis, R, Howard, H, Barash, C, Izagirre, N, Jung, J, Kojima, T, Laradi, S, Lee, Y, Lee, J, Gil-da-Silva-Lopes, V, Macrae, F, Maglott, D, Marafie, M, Marsh, S, Matsubara, Y, Messiaen, L, Moslein, G, Netea, M, Norton, M, Oefner, P, Oetting, W, O'Leary, J, de Ramirez, A, Paalman, M, Parboosingh, J, Patrinos, G, Perozzi, G, Phillips, I, Povey, S, Prasad, S, Qi, M, Quinzani, Dario, Ramesar, R, Richards, C, Savige, J, Scheible, D, Scott, R, Seminara, D, Shephard, E, Sijmons, R, Smith, T, Sobrido, M, Tanaka, T, Tavtigian, S, Taylor, G, Teague, J, Topel, T, Ullman-Cullere, M, Utsunomiya, J, van Kranen, H, Vihinen, M, Webb, E, Weber, Bertram, Yeager, M, Yeom, Y, Yim, S, Yoo, H, Genuardi, M (ORCID:0000-0002-7410-8351), Quin, D, and Weber, T

Abstract

The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols Spain, in May 2008. Hum Mutat 30, 496-510, 2009. (C) 2009 Wiley-Liss, Inc.

Published
2009

45. Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

Author

Mantripragada, Kiran K, Thuresson, Ann-Charlotte, Piotrowski, Arek, Diaz De Ståhl, Teresita, Menzel, Uwe, Grigelionis, Gintautas, Ferner, R, Griffiths, Sian, Bolund, Lars, Mautner, Victor, Nordling, M, Legius, E, Vetrie, D, Dahl, Niklas, Messiaen, L, Upadhyaya, M, Bruder, C E G, Dumanski, Jan P, Mantripragada, Kiran K, Thuresson, Ann-Charlotte, Piotrowski, Arek, Diaz De Ståhl, Teresita, Menzel, Uwe, Grigelionis, Gintautas, Ferner, R, Griffiths, Sian, Bolund, Lars, Mautner, Victor, Nordling, M, Legius, E, Vetrie, D, Dahl, Niklas, Messiaen, L, Upadhyaya, M, Bruder, C E G, and Dumanski, Jan P

Abstract

Background: Segmental duplications flanking the neurofibromatosis type 1 ( NF1) genelocus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report theconstruction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11,using a non- redundant approach for array design. The average resolution of analysis for the array is similar to 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1gene. Methods: We performed a comprehensive array- CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in26 cases, whereas 13 samples showed atypical deletion profiles. Results: The size of the atypical deletions, contained within the segment covered by the array, ranged from 6 kb to 1.6 Mb and their breakpoints could be accurately determined. Moreover, 10 atypical deletions were observed to share a common breakpoint either on the proximal or distal end of thedeletion. The deletions identified by array- CGH were independently confirmed using multiplex ligation- dependent probe amplification. Bioinformatic analysis of the entire locus identified 33segmental duplications. Conclusions: We show that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1 in five atypical deletions, might represent a novel hot spot for deletions. Our array constitutes a novel and reliable tool offering significantly improved diagnostics for this common disorder.

Published
2006
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46. Report of the Sixth International Workshop on Human Chromosome 3 Mapping 1995 - Held on 23-24 October 1995 - Minneapolis, Minnesota

Author

Naylor, SL, Carritt, B, Boileau, C, Beroud, C, Alexander, C, Allderdice, P, Alimov, A, Ashworth, T, Bonifas, J, Bugert, P, Buys, CHCM, Chipperfield, MA, Deng, G, Drabkin, H, Gemmill, RM, Grompe, M, Joensuu, T, Jonasdottir, A, Gizatullin, R, Krois, L, Leach, RJ, Lott, ST, Killary, A, Messiaen, L, OConnell, P, Opalka, B, Plaetke, R, Sankila, EM, Smith, DI, Strachen, T, van den Berg, Anke, Zabarovsky, E, Stem Cell Aging Leukemia and Lymphoma (SALL), and Translational Immunology Groningen (TRIGR)

Published
1996

47. ATYPICAL TERATOID RHABDOID TUMOR (ATRT)

Author

Hasselblatt, M., primary, Kordes, U., additional, Wolff, J., additional, Jeibmann, A., additional, Fruhwald, M., additional, Paulus, W., additional, Hasselblatt, M., additional, Isken, S., additional, Siebert, R., additional, Schneppenheim, R., additional, Benesch, M., additional, Fleischhack, G., additional, Gruhn, B., additional, Schlegel, P.-G., additional, Witt, O., additional, Holter, W., additional, Reiter, A., additional, Urban, C., additional, Fruhwald, M. C., additional, Lafay-Cousin, L., additional, Huang, A., additional, Hawkins, C., additional, Fryer, C., additional, Bouffet, E., additional, Kruchko, C., additional, Propp, J., additional, McCarthy, B., additional, Dolecek, T., additional, Kerl, K., additional, Unland, R., additional, Jurgens, H., additional, Kieran, M. W., additional, Roberts, C. W. M., additional, Biegel, J. A., additional, MacConaill, L. E., additional, Rich, B. E., additional, Ligon, K. L., additional, Chi, S., additional, Kondo, A., additional, Shimoji, K., additional, Ogino, I., additional, Junya, F., additional, Sakaguchi, S., additional, Miyajima, M., additional, Arai, H., additional, Alimova, I., additional, Knipstein, J., additional, Harris, P., additional, Venkataraman, S., additional, Marquez, V., additional, Birks, D., additional, Foreman, N., additional, Vibhakar, R., additional, Bartelheim, K., additional, Warmuth-Metz, M., additional, Kortmann, R.-D., additional, Gerss, J., additional, Rizzo, D., additional, Freneaux, P., additional, Brisse, H., additional, Parfait, B., additional, Doz, F., additional, Dufour, C., additional, Stephan, J.-L., additional, Edan, C., additional, Ranchere-Vince, D., additional, Peuchmaur, M., additional, Delattre, O., additional, Bourdeaut, F., additional, Soh, S. Y., additional, Chan, M. Y., additional, Seow, W. T., additional, Chang, K., additional, Ng, W. H., additional, Tan, A. M., additional, Yamasaki, K., additional, Tanaka, C., additional, Okada, K., additional, Fujisaki, H., additional, Osugi, Y., additional, Hara, J., additional, Matsusaka, Y., additional, Sakamoto, H., additional, Inoue, T., additional, Batchelder, P., additional, DeMasters, B. K., additional, Handler, M., additional, Sumerauer, D., additional, Vasovcak, P., additional, Puchmajerova, A., additional, Zapotocky, M., additional, Vicha, A., additional, Kyncl, M., additional, Zamecnik, J., additional, Sedlacek, Z., additional, Kodet, R., additional, Geludkova, O., additional, Kumirova, E., additional, Korshunov, A., additional, Kushel, Y., additional, Melikyan, A., additional, Shishkina, L., additional, Ryzhova, M., additional, Ozerova, V., additional, Gorbatyh, S., additional, Popov, V., additional, Pavlova, E., additional, Scherbenko, O., additional, Borodina, I., additional, Donson, A., additional, Dunham, C., additional, Algar, E., additional, Popovski, D., additional, Muscat, A., additional, Ashley, D., additional, Modena, P., additional, Sardi, I., additional, Brenca, M., additional, Giunti, L., additional, Maestro, R., additional, Buccoliero, A. M., additional, Pollo, B., additional, Genitori, L., additional, Giangaspero, F., additional, Massimino, M., additional, Amani, V., additional, Griesinger, A., additional, Bemis, L., additional, Schittone, S., additional, Puccetti, D., additional, Wargowski, D., additional, Messiaen, L., additional, Patel, N., additional, Salamat, S., additional, Rusinak, D., additional, Iskandar, B., additional, Lun, X., additional, Jayanthan, A., additional, Forsyth, P., additional, and Narendran, A., additional

Published
2012
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50. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Author

Loeys, B.L., Nuytinck, L., Acker, P. van, Walraedt, S., Bonduelle, M., Sermon, K., Hamel, B.C.J., Sanchez, A., Messiaen, L., Paepe, A. de, Loeys, B.L., Nuytinck, L., Acker, P. van, Walraedt, S., Bonduelle, M., Sermon, K., Hamel, B.C.J., Sanchez, A., Messiaen, L., and Paepe, A. de

Abstract

Item does not contain fulltext, Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2-3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous striae to ectopia lentis and aortic dilatation leading to dissection. Prenatal diagnosis was until recently mainly performed in familial cases by linkage analysis. However, mutation detection has become available with thorough screening methods. The phenotypic variability observed in MFS makes reproductive options difficult, as molecular diagnosis cannot predict clinical severity of the disease. Data are presented on 15 prenatal and/or preimplantation genetic diagnoses (PGD) in nine families, originating from Belgium, the Netherlands, Spain and France. In four families data from linkage analysis were used, whereas in five other families the causative FBN1 mutation was characterised. Four PGD cycles in two couples led to one ongoing pregnancy. In addition, two amniocenteses and nine chorionic villus (CV) samplings were performed. In five pregnancies an affected fetus was diagnosed. In one of them, the couple chose to continue the pregnancy and an affected child was born, whereas the other four couples decided to terminate the pregnancy. It is expected that the greater availability of mutation testing of the FBN1 gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas.

Published
2002

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