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21 results on '"Mortier G"'

1. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Author

van Bon, B.W.M., Mefford, H.C., Menten, B., Koolen, D.A., Sharp, A.J., Nillesen, W.M., Innis, J.W., de Ravel, T.J.L., Mercer, C.L., Fichera, M., Stewart, H., Connell, L.E., Ounap, K., Lachlan, K., Castle, B., Van der Aa, N., van Ravenswaaij, C., Nobrega, M.A., Serra-Juhe, C., Simonic, I., de Leeuw, N., Pfundt, R., Bongers, E.M., Baker, C., Finnemore, P., Huang, S., Maloney, V.K., Crolla, J.A., van Kalmthout, M., Elia, M., Vandeweyer, G., Fryns, J.P., Janssens, S., Foulds, N., Reitano, S., Smith, K., Parkel, S., Loeys, B., Woods, C.G., Oostra, A., Speleman, F., Pereira, A.C., Kurg, A., Willatt, L., Knight, S.J.L., Vermeesch, J.R., Romano, C., Barber, J.C., Mortier, G., Perez-Jurado, L.A., Kooy, F., Brunner, H.G., Eichler, E.E., Kleefstra, T., and de Vries, B.B.A.

Subjects
Chromosome deletion -- Research, Mental retardation -- Genetic aspects, Mental retardation -- Development and progression, Mental retardation -- Patient outcomes, Mental retardation -- Research, Epilepsy -- Genetic aspects, Epilepsy -- Development and progression, Epilepsy -- Patient outcomes, Epilepsy -- Research, Health
Published
2009

2. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Author

Willaert, A., Malfait, F., Symoens, S., Gevaert, K., Kayserilli, H., Megarbane, A., Mortier, G., Leroy, J.G., Coucke, P.J., and De Paepe, A.

Subjects
Osteogenesis imperfecta -- Genetic aspects, Osteogenesis imperfecta -- Causes of, Osteogenesis imperfecta -- Research, Gene mutations -- Research, Hydroxylation -- Research, Health
Published
2009

4. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Author

Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesompele, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L., Janssens, S., De Paepe, A., De Moor, B., Moreau, Y., Marynen, P., Fryns, J.P., Mortier, G., Devriendt, K., Speleman, F., and Vermeesch, J.R.

Subjects
Chromosome abnormalities -- Research, Chromosome abnormalities -- Complications and side effects, Mental retardation -- Causes of, Mental retardation -- Genetic aspects, Birth defects -- Causes of, Birth defects -- Genetic aspects, Health
Published
2006

5. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

Author

Thauvin-Robinet, C., Cossee, M., Cormier-Daire, V., Van Maldergem, L., Toutain, A., Alembik, Y., Bieth, E., Layet, V., Parent, P., David, A., Goldenberg, A., Mortier, G., Heron, D., Sagot, P., Bouvier, A.M., Huet, F., Cusin, V., Donzel, A., Devys, D., Teyssier, J.R., and Faivre, L.

Subjects
Gene mutations -- Research, Genotype -- Analysis, Molecular genetics -- Research, Multiple abnormalities -- Development and progression, Multiple abnormalities -- Genetic aspects, Phenotype -- Analysis, X chromosome -- Analysis, X chromosome -- Physiological aspects, Health
Published
2006

6. 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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10. International Symposium on bone vascularization

Author

Burkhardt, R., Bartl, R., Frisch, B., Jäger, K., Mahl, G., Hill, W., Kettner, G., Bonnel, F., Teissier, J., Allieu, Y., Cazelas, A., Farkas, T., Zimmermann, I., Siko, P., Viola, T., Marin, D. Robles, Broseta, R., Berlanga, J. L., Aranda, M., Marti, M., Andreu, P., Wang, Gwo -Jaw, Hubbard, S. L., Regor, S. I., Miller, E. D., Stamp, W. G., Wang, G. J., Rawles, G. J., Paolaggi, J. B., Le Parc, J. M., Durigon, M., Barres, D., Paolaggi, F., Blotman, F., Colette, C., Monnier, L., Baldet, P., Simon, L., Bouteiller, G., Arlet, J., Blasco, A., Vigoni, F., Eleftérion, A., Trias, A., Téot, L., Tétreault, L., Pooley, J., Walder, D. N., Griss, P., Mohr, M., Ishida, Y., Gaucher, A., Bertrand, A., Wiederkehr, P., Hocquard, C., Raul, P., Adolphe, J., Mess, D., Pavel, D., Barmada, R., Schuind, F., Schoutens, A., Verhas, W., Verschaeren, A., Steib, J. P., Lang, G., Moysses, B., Kleinklaus, K., Ram, M., Theron, J., Collette, M., Ficat, P., Durroux, R., Horvath, E., Boussaton, M., Senie, J. N., Brookes, M., Heatley, F. W., Connoily, J. F., Chakkalakal, D., Kelbel, M., Pfister, U., Gregg, P. J., Clayton, C. B., Ions, G. K., Smith, S. R., Schmelzeisen, H., Perren, S. M., Rahn, B., Albrektsson, T., Albrektsson, T., McCarthy, I. D., Hughes, S. P. F., Tothill, P., Hooper, G., Tøndevold, E., Bülow, J., Light, T. R., McKinstry, M. R., Schnitzer, J., Ogden, J., Vicente, P., Gunst, M. A., Rahn, B. A., Lüthy, U., Perren, S. M., McCarthy, I., Wootton, R., Arnoldi, C., Bünger, C., Kery, L., Driessens, M. F., Mortier, G., Vanhoutte, P. M., Tran, M. A., Lac, Dang Tran, Berlan, M., Solomon, S., Schnitzler, C. M., Seftel, H., Mendelsohn, D., Kundig, H., Van Vuren, J. P., Spence, R. K., Alavi, A., Barker, C. F., Grossman, R. G., Slaven, B., Steinberg, M. E., Lane, J., Benoit, J., Danon, H., Lortat-Jacob, A., Dupont, J. Y., Durigon, M., Spencer, J. D., Cabannes, R., Sombo, F., Habermann, E. T., Hartzband, M. A., Zollinger, H., Kubik, St., Schreiber, A., Fauchier, Ch., Jacqueline, F., Remagen, W., Saint-André, J. M., Vizkelety, T., Malcolm, A. J., Warda, E., Dell, P. C., Burchardt, H., Luethi, U. K., Stroud, R. D., Rahn, B. A., Brown, S. A., Bauer, G., Hanson, L. I., Palmer, J., Stromqvist, B., Hayken, G. D., Steinberg, D. R., Baixe, J. M., Brighton, C. T., Tooze, S. E., Bassett, C. A. L., Schink, M. M., Mitchell, S. N., Judet, H., Gilbert, A., Jude, J., Skinner, H. B., Penix, A. R., Cook, S. D., Haddad, R. J., Nedjar, C., Ficat, C., Blockx, P. P. G., Bauer, C. H., Décamps, J. L., Bünger, E. H., Bülow, J., Djurhuus, J. C., Chappard, D., Laurent, J. L., Alexandre, C., Riffat, G., Christensen, S. B., Reimann, I., Henriksen, O., Berlabga, J. L., Andrianne, Y., Burny, F., Donkerwolcke, M., Saric, O., Taberly, Pradere, Regis, Bru, Bouzet, Mazières, and Arlet

Published
1982
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11. Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Author

Mortier, G. R., Messiaen, Ludwine M., Espeel, Marc, Smets, Koen J., Vanzieleghem, Bart D., Roels, Frank, and De Paepe, Anne M.

Abstract

Abstract: We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic examination revealed punctate epiphyses and coronal clefting of the thoracic spine. The hand radiographs showed some similarities to the brachytelephalangic type of chondrodysplasia punctata. However, the disorder did not fit well with any known entity of chondrodysplasia punctata or other condition characterized by punctate epiphyses.

Published
1998
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13. Benzene poisoning as a possible cause of transverse myelitis

Author

Herregods, P, Chappel, R, and Mortier, G

Abstract

A case of transverse myelitis in a 25-year-old patient was described. The transverse myelitis was caused by toxic cause, probably as a result of benzene poisoning. This diagnosis was based on:1. The differential diagnosis.2. The patient's occupation.3. The abnormal high urinary phenol levels.4. The coincidence of decreasing urinary phenol values with an amelioration of the clinical condition of patient.After consulting the literature, we think that this case of transverse myelitis based on a benzene poisoning is the first ever described.

Published
1984
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14. CT of the temporal bone in the CHARGE association

Author

Lemmerling, M., Dhooge, I., Mollet, P., Mortier, G., Van Cauwenberge, P., and Kunnen, M.

Abstract

Abstract: We reviewed the CT examinations of the temporal bone, performed with 1-mm-thick contiguous sections, of seven patients with the CHARGE association. We found abnormalities of the incus and stapes, with ossicular chain fixation, absence of the stapedius muscle and oval window, hypoplasia or dysplasia of the vestibule and absence of the semicircular canals in all ears. The pyramidal eminence and tympanic sinus were absent and there were anomalies of the cochlea in 13 of 14 ears. Absence of the semicircular canals is the most specific change in patients with the CHARGE association.

Published
1998
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16. The mutation spectrum in Holt-Oram syndrome

Author

Leheup, B., Cross, S.J., Mortier, G., Ching, Y-H., Ravenswaaij, C. van, Li, Q. Yi, Gardiner, C-A., Armstrong-Buisseret, L., Brook, J.D., Spranger, S., Newbury-Ecob, R., Lyonnet, S., Bonnet, D., Penttinen, M., and Jonveaux, P.

Published
2000

17. Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

Author

Faivre, L., Merrer, M. Le, Cusin, V., Munnich, A., Maroteaux, P., Cormier-Daire, V., Megarbane, A., Gilbert, B., and Mortier, G.

Abstract

Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDM is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13-q12 by homozygosity mapping in four consanguineous families. Here, we show linkage of the disease gene to chromosome 9p13-q12 in four of five consanguineous AMDM families and its exclusion in a fifth family with two children affected with a mild form of the disease. This study suggests that genetic heterogeneity accounts for the variable clinical and radiological severity of AMDM.

Published
2000

20. 6C.01

Author

Picard, H. Louis Dit, Latreche, S., Thurairajasingam, N., Auzan, C., Fiquet, B., Frayssinet, R., Garnier, A., Jendruchova, V., Lobbedez, T., Martorell, L., Mortier, G., Pela, I., Taque, S., Vargas-Poussou, R., Clauser, E., and Jeunemaitre, X.

Abstract

Familial hyperkalaemic hypertension (FHHt) also known as Gordon syndrome is a rare form of hypertension.

Published
2015
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