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Your search keyword '"Messiaen, L."' showing total 15 results
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15 results on '"Messiaen, L."'

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

Author

Mantripragada, K.K., Thuresson, A.-C., Piotrowski, A., Diaz de Stahl, T., Menzel, U., Grigelionis, G., Ferner, R.E., Griffiths, S., Bolund, L., Mautner, V., Nordling, M., Legius, E., Vetrie, D., Dahl, N., Messiaen, L., Upadhyaya, M., Bruder, C.E.G., and Dumanski, J.P.

Subjects
Neurofibromatosis -- Diagnosis, DNA microarrays -- Usage, DNA microarrays -- Methods, Health
Published
2006

2. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Author

Sharp, A. M., Messiaen, L. M., Page, G., Antignac, C., Gubler, M-C., Onuchic, L. F., Somlo, S., Germino, G. G., and Guay-Woodford, L. M.

Subjects
Polycystic kidney disease -- Genetic aspects, Polycystic kidney disease -- Research, Human chromosome abnormalities -- Research, Human chromosome abnormalities -- Identification and classification, Health
Published
2005

3. Independent NF1 mutations in two large families with spinal neurofibromatosis. (Letter to JMG)

Author

Messiaen, L., Riccardi, V., Peltonen, J., Maertens, O., Callens, T., Karvonen, S.L., Leisti, E-L, Koivunen, J., Vandenbroucke, I., Stephens, K., and Poyhonen, M.

Subjects
Gene mutations -- Physiological aspects -- Case studies -- Analysis -- Health aspects, Neural crest -- Abnormalities -- Research -- Case studies -- Analysis -- Physiological aspects -- Health aspects, Genetic research -- Analysis -- Case studies -- Physiological aspects -- Health aspects, Human embryo -- Genetic aspects -- Health aspects -- Research -- Case studies -- Analysis -- Physiological aspects, Neurofibromatosis -- Research -- Health aspects -- Genetic aspects -- Case studies -- Diagnosis -- Analysis -- Physiological aspects, Medical genetics -- Research -- Case studies -- Health aspects -- Analysis -- Physiological aspects, Health, Diagnosis, Physiological aspects, Analysis, Case studies, Genetic aspects, Research, Abnormalities, Health aspects
Abstract

The neurofibromatoses are a group of neurocutaneous disorders that show extreme clinical heterogeneity and are characterised by growth abnormalities in tissues derived from the embryonic neural crest. (1 2) Two [...]

Published
2003

4. Evolution and expression of FOXL2. (Letter to JMG)

Author

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

Subjects
Genetic disorders -- Research -- Genetic aspects, Syndromes -- Genetic aspects -- Research, Ovaries -- Abnormalities -- Research, Eyelids -- Abnormalities -- Research -- Genetic aspects, Blepharoptosis -- Genetic aspects -- Research, Health
Abstract

Mutations in the FOXL2 gene have recently been shown to cause the blepharophimosis-ptosis-epicanthus in-versus syndrome (BPES), a rare genetic disease (MIM 110100). (1) In type I BPES eyelid abnormalities are [...]

Published
2002

7. Multiple Myofibromas and an Epidermal Verrucous Nevus in a Child with Neurofibromatosis Type 1

Author

Schepper, S. De, Janssens, S., Messiaen, L., Broecke, C. Van den, and Naeyaert, J.-M.

Abstract

AbstractNeurofibromatosis type 1 (NF1) is a common neurocutaneous autosomal dominant genetic disorder affecting primarily tissues derived from the embryonic neural crest. Two hallmark features of NF1 are the wide range of potentially affected tissues and the enormous phenotypic variability of disease traits even among patients from the same family. We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus. To our knowledge this association has never been described before.Copyright © 2004 S. Karger AG, Basel

Published
2004

8. A new type of autosomal recessive spondyloepiphyseal dysplasia tarda<FNR HREF="fn1"></FNR><FN ID="fn1">JGL and JWS are visiting senior Research Scholars at Greenwood Genetic Center, Greenwood, South Carolina.</FN>

Author

Leroy, J.G., Leroy, B.P., Emmery, L.V., and Messiaen, L.

Abstract

Repeated occurrence of a hitherto unrecognized form of spondyloepiphyseal dysplasia tarda (SED tarda) has been studied in two independent families. Because parental consanguinity was also present in one family, autosomal recessive inheritance is proposed. The onset was in late childhood. The slowly evolving disorder shared several features of the already known types of SED tarda. The radiographic abnormalities were limited to the spine and proximal femora. The patients' hands were normal. The entity described is set apart not only from the X-linked and autosomal-dominant forms of SED tarda but also from the already delineated autosomal recessive types by significant clinical and radiographic differences. Final genotypic characterization must await the results of genetic linkage studies and of appropriate molecular genetics investigations. © 2003 Wiley-Liss, Inc.

Published
2004
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9. Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

Author

Loeys, B., Nuytinck, L., Van Acker, P., Walraedt, S., Bonduelle, M., Sermon, K., Hamel, B., Sanchez, A., Messiaen, L., and De Paepe, A.

Abstract

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 FBN1mutation 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 FBN1gene will increase requests for prenatal diagnosis. PGD appears to be an acceptable alternative for couples facing ethical reproductive dilemmas. Copyright © 2002 John Wiley & Sons, Ltd.

Published
2002
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10. Carrier Screening for Cystic Fibrosis in a Prenatal Setting

Author

Delvaux, I., van Tongerloo, A., Messiaen, L., Van Loon, C., De Bie, S., Mortier, G., and De Paepe, A.

Abstract

Maternal prenatal cystic fibrosis (CF) screening was offered from September, 1997, to April, 1999, at the Ghent University Hospital, to couples undergoing prenatal diagnosis (amniocentesis) for reasons not related to CF. Fifteen minutes were devoted to explaining CF, CF screening, and the study protocol. The purpose was to assess the short- and long-term knowledge of CF, the attitude towards carrier screening, and carriership. A total of 314 couples entered the pilot study; 13 female CF carriers were identified. None of their partners carried an identifiable mutation. Our survey results show that information about CF and CF screening can be given effectively as part of antenatal care because most couples recalled important medical and genetic issues, valued the genetic test for CF, and seemed to cope well with the results. Risk estimates and actual numbers were more difficult to process and recall. From the small number of couples in which the woman alone was found to be a carrier, there was little or no evidence of marked distress.

Published
2001
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12. Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

Author

Messiaen, L., Callens, Tom, De Paepe, A., Craen, Margarita, and Mortier, Geert

Abstract

Abstract: Neurofibromatosis type 1 (NF1), characterised by peripheral neurofibromas, café-au-lait spots and iris Lisch nodules, is one of the most common inherited disorders. We have analysed exons 35 to 49 in 21 unrelated NF1 patients using reverse transcription-polymerase chain reaction and protein truncation analysis. In two unrelated patients we found skipping of exon 37 at the cDNA level. Sequence analysis of genomic DNA revealed the presence of a C6792A transversion in one patient and a C6792G transversion in a second patient; both transversions change the codon for tyrosine to a nonsense codon. Sequencing of the exonic sequences as well as the branch sites, and the 3′ and 5′ splice sites of exons 36, 37 and 38 did not reveal any additional sequence abnormality. This is the first report showing that nonsense mutations in the NF1 gene can induce the skipping of a constitutive exon.

Published
1997
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13. Anin vitro model for chick embryonic notochords

Author

Ghanem, E., Messiaen, L., and Ridder, L.

Abstract

A two step method to obtain mesenchymal free 3.5 day old chick embryonic notochordsin vitro is presented. 1.) Notochords are isolated by mechanical microdissection from the embryos below the head and above the leg-buds. 2.) The dissected notochords are trypsinized to eliminate contaminating mesenchymal cells, while the perinotochordal sheath (PNS) is retained. After isolation and trypsinization, notochords are cut in standard 8mm lengths, explantedin vitro and incubated at 37°C. Immediately before incubation and after 3 and 6 daysin vitro, notochords are fixed and stained to follow the morphological changes. The total DNA content of notochords is measured before and during maintenancein vitro to evaluate their metabolic activities. Results show that during thein vitro period, the isolated mesenchymal free notochordal fragments can conserve their characteristic architecture. The total DNA content measurements indicate proliferative activity and a high viability of the notochords in ourin vitro system. In the present study, an isolation andin vitro method is offered which might be an effective tool to study the metabolic activities of chick embryonic notochordsin vitro in comparison toin vivo behaviour, in order to study the underlying mechanism of notochord regression.

Published
1995
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14. Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly

Author

Courtens, W., Tjalma, W., Messiaen, L., Vamos, E., Martin, J.J., Bogaert, E. Van, Keersmaekers, G., Meulyzer, P., and Wauters, J.

Abstract

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed. Am. J. Med. Genet. 77:188–197, 1998. © 1998 Wiley-Liss, Inc.

Published
1998
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15. Late abstracts 186–187

Author

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

Published
1988
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