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15. Chromosome 21, Trisomy 21, and Alzheimer’s Disease

Author

Sinet, P.-M., Rahmani, Z., Blouin, J.-L., Nicole, A., Ceballos, I., Creau-Goldberg, N., Turleau, C., de Grouchy, J., Huret, J.-L., Poissonnier, M., Delabar, J.-M., Christen, Yves, editor, Sinet, Pierre Marie, editor, and Lamour, Yvon, editor

Published
1988
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16. Abstracts of Selected Posters

Author

Albanese, R., Antoine, J. L., Dutrillaux, B., Ashley, T., Avivi, L., Kariv, I., Barigozzi, C., Baratelli, L., Profeta, S., Bartram, C. R., de Klein, A., Hagemeijer, A., Grosveld, G., Bootsma, D., Bennett, Michael D., Smith, J. B., Ward, J. P., Heslop-Harrison, J. S., Blin, N., Kopun, M., Buys, C. H. C. M., Koerts, T., van der Veen, A. Y., de Leij, L., Civitelli, M. V., Capanna, E., Couturier, J., Arnason, U., Mandahl, N., Créau-Goldberg, N., Turleau, C., Cochet, C., de Grouchy, J., Dietrich, A. J. J., Delhanty, J. D. A., Mazzullo, H. A., Cooke, H. M. G., Dotan, A., Dresser, M. E., Moses, M. J., Evans, E. P., Burgoyne, P. B., Ferraro, M., Lavia, P., Fonatsch, C., Kirchner, H. H., Pajunk, A., Schaadt, M., Burrichter, H., Diehl, V., Ford, J. H., Roberts, C. G., Friebe, B., Vogel, R., Friedländer, M., Gamperl, R., Amtmann, E., Pfister, H., Gebhart, E., Wagner, H., Goetz, P., Chandley, A. C., Speed, R. M., Goyanes, V. J., Schvartzman, J. B., Graeven, U., Weh, H. J., Hossfeld, D. K., Greenblatt, I. M., Gripenberg, U., Söderlund, V., Wahlberg, C., Blomqvist, L., Guichaoua, M. R., Delafontaine, D., Taillemite, J. L., Luciani, J. M., Naaf, T., Grunert, D., Schmid, M., Hameister, H., Sperling, K., Hamers, A., Jongbloet, P., Peeters, G., Geraedts, J., Hartley-Asp, B., Heneen, W. K., Hens, L., Kirsch-Volders, M., Susanne, C., Herbst, E. W., Winking, H., Claussen, C. P., Putz, B., Sellin, D., Kolbus, U., Gropp, A., Bennett, M. D., Heyting, C., Koperdraad, F., Redeker, E. J. W., Holmquist, G., Goldman, M., Jaworska, Halina, Johannisson, R., Kerem, B., Goitein, R., Richier, C., Marcus, M., Cedar, H., Koch, H., Hoehn, H., Kubbies, Manfred, Rabinovitch, Peter S., Kunz, W., Franz, G., Lacadena, J. R., Cermeno, M. C., Orellana, J., Santos, J. L., Lemeunier, F., Derbin, C., Lin, C. C., Hoar, D. I., Hoo, J. J., Macgregor, H. C., Sims, S., Horner, H. A., Pellatt, P., Mackay, J. M., Fox, D. P., Brunt, P. W., Johnston, A. W., Magenis, R. E., Chamberlin, J., Allen, L., Tomar, D., Olson, S., Donlon, T., Marlekaj, P., Balcini, A., Fantoni, A., de Capoa, A., Martinsson, T., Dahllöf, B., Levan, G., Matsukuma, S., Utakoji, T., del Mazo, J., Avila, J., Miller, D. A., Feinstein, S. I., Miller, O. J., Morita, T., Delarbre, C., Gachelin, G., Kourilsky, P., Moritz, K., Moriwaki, K., Miyashita, N., Imai, H. T., Wang, C. H., Bonhomme, F., Murer-Orlando, M., Peterson, A. C., Neitzel, H., Bogenberger, J., Fittler, F., Gaenge, M., Schulze, C., Nietzel, H., Nürnberger, F., Höhn, H., van Ommen, G. J. B., Baas, F., Arnberg, A. C., Pearson, P. L., De Vijilder, J. J. M., Bakker, E., Hofker, M., Wapenaar, M. C., Parrington, J. M., West, L. F., Povey, S., Pasquali, F., Casalone, R., Bernasconi, P., Paul, J., Froster-Iskenius, U., Schwinger, E., Moje, W., Pearson, P. O., Beverstock, G. C., Veenema, H., v.d Kamp, J. J., Petitpierre, E., Philip, J., Lundsteen, C., van der Ploeg, M., van Prooijen-Knegt, A. C., Bauman, J. G. J., van Duijn, P., Puertas, M. J., de la Pena, A., Estades, B., Merino, F., Rao, S. R. V., Vasantha, K., Thelma, B. K., Juyal, R. C., Jhanwar, S. C., Ratomponirina, Ch, Hamilton, A., Rumpler, Y., Moses, M., Raveh, D., Ben-Zeoev, A., Redi, C. A., Garagna, S., Italy, C. N. R., Robert-Nicoud, M., Streichhan, I., Möhr, E., Westermann, R., Grossbach, U., Sandberg, P., Levan, A., Schäfer, Mireille, Schempp, W., Scheres, J. M. J. C., Hustinx, T. W. J., Holdrinet, R. S. G., Tice, R. R., Schwarzacher, T., Finch, R. A., Searle, J. B., Sharma, T., Sen, S., Cheong, N., Siebert, E., Loidl, J., Slater, R. M., de Kraker, J., Voute, P. A., Delemarre, J. F. M., Smeets, D. F. C. M., Smits, A. P. T., Solleder, E., Inglin, B., Geile, B., Somssich, I., Schwarz, E., Speit, G., Mehnert, K., Vogel, W., Stahl, A., Hartung, M., Devictor, M., Guichaoua, M., Stoll, C., Roth, M.-P., Dott, B., Tabor, A., Madsen, M., Tommerup, N., Traut, W., Chavin-Colin, F., Junien, C., Vekemans, M., Esseltine, D., Venegas, W., Lasne, Cl, Chouroulinkov, I., Vidal, F., Navarro, J., Templado, C., Egozcue, J., Viegas-Péquignot, E., Malfoy, B., Taillandier, E., Leng, M., Viinikka, Y., Spielmann, H., Boldin, S., Volobouev, V. T., Webb, G. C., Krumins, E., Wegner, R.-D., Lüdtke, E.-L., Weith, A., Westerman, M., Thomson, R., Sinclair, A., Yacobi, Y. Z., Feldman, M., Yoon, J. S., Bennett, M. D., editor, Gropp, A., editor, and Wolf, U., editor

Published
1984
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18. Deletion of the SIM1 gene (6q 16.2) in a patient with a Prader-Willi-like phenotype. (Letter to JMG)

Author

Faivre, L., Cormier-Daire, V., Lapierre, J.M., Colleaux, L., Jacquemont, S., Genevieve, D., Saunier, P., Munnich, A., Turleau, C., Romana, S., Prieur, M., Blois, M.C. De, and Vekemans, M.

Subjects
Prader-Willi syndrome -- Genetic aspects -- Physiological aspects, Human chromosome abnormalities -- Physiological aspects -- Genetic aspects, Chromosome deletion -- Physiological aspects -- Genetic aspects, Health
Abstract

Apart from Prader-Willi syndrome, which is a well delineated imprinting disorder of the 15q11-q12 region, other chromosome anomalies have been described in a small number of patients with features reminiscent [...]

Published
2002

19. Trisomy 18q-. Trisomy mapping of chromosome 18 revisited

Author

J. de Grouchy, Turleau C, R. Narbouton, D. Asensi, and F. Chavin-Colin

Subjects
Male, Pathology, medicine.medical_specialty, Microretrognathia, Trisomy, Chromosomal translocation, Translocation, Genetic, Chromosome 18, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosomes, Human, 16-18, business.industry, Infant, Newborn, Chromosome Mapping, Congenital malformations, Syndrome, medicine.disease, Phenotype, Dysplasia, Female, Small mouth, business, Chromosomes, Human, 13-15
Abstract

Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less sever vital prognosis.

Published
2008
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21. Molecular cytogenetic screening in CHARGE association

Author

Sanlaville, D., Lapierre, J.M., Genevieve, D., Ozilou, C., Le Lorc'h, M., Brisset, S., Gosset, P., Baumann, C., Amiel, J., Lyonnet, S., Turleau, C., Vekemans, M., and Romana, S.P.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Human chromosome abnormalities -- Research, Biological sciences
Published
2001

24. Two cases of Xq28 functional disomy detected using subtelomeric probes screening

Author

de Blois, M.C., Sanlaville, D., Prieur, M., Lapierre, J.M., Ozilou, C., Gosset, P., Munnich, A., Cormier-Daire, V., Romana, S.P., Vekemans, M., and Turleau, C.

Subjects
Human genetics -- Research, Human chromosome abnormalities -- Research, Mental retardation -- Genetic aspects, Face -- Abnormalities, Genetic disorders -- Diagnosis, DNA probes -- Usage, Genetic screening -- Usage, Biological sciences
Published
2001

33. Chromosome 21, Trisomy 21, and Alzheimer’s Disease

Author

Sinet, P.-M., primary, Rahmani, Z., additional, Blouin, J.-L., additional, Nicole, A., additional, Ceballos, I., additional, Creau-Goldberg, N., additional, Turleau, C., additional, de Grouchy, J., additional, Huret, J.-L., additional, Poissonnier, M., additional, and Delabar, J.-M., additional

Published
1988
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38. An excess of chromosome 1 breakpoints in male infertility

Author

Bache, Iben, Assche, E.V., Cingöz, Sultan, Bugge, Merete, Tümer, Zeynep A, Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K, Niebuhr, Anita, Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondom-Nielsen, K., Bruun-Pedersen, G., Croquette, M.F., Dahoun, S., Dallapiccola, B., Davison, V., Delobel, B., Duba, H.C., Duprez, L., Ferguson-Smith, M., Fitzpatrick, D.R., Grace, E., Hansmann, I., Hulten, M., Jensen, P.K., Jonveaux, P., Kristoffersen, U., Lopez-Pajares, I., McGowan-Jordan, J., Murken, J., Orera, M., Parkin, T., Passarge, E., Ramos, C., Rasmussen, K., Schempp, W., Schubert, R., Schwinger, E., Shabtai, F., Smith, K., Stallings, R., Stefanova, M., Tranebjærg, Lisbeth, Turleau, C., van der Hagen, C.B., Vekemans, M., Vokac, N.K., Wagner, K., Wahlstroem, J., Zelante, L, Tommerup, Niels, Bache, Iben, Assche, E.V., Cingöz, Sultan, Bugge, Merete, Tümer, Zeynep A, Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K, Niebuhr, Anita, Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondom-Nielsen, K., Bruun-Pedersen, G., Croquette, M.F., Dahoun, S., Dallapiccola, B., Davison, V., Delobel, B., Duba, H.C., Duprez, L., Ferguson-Smith, M., Fitzpatrick, D.R., Grace, E., Hansmann, I., Hulten, M., Jensen, P.K., Jonveaux, P., Kristoffersen, U., Lopez-Pajares, I., McGowan-Jordan, J., Murken, J., Orera, M., Parkin, T., Passarge, E., Ramos, C., Rasmussen, K., Schempp, W., Schubert, R., Schwinger, E., Shabtai, F., Smith, K., Stallings, R., Stefanova, M., Tranebjærg, Lisbeth, Turleau, C., van der Hagen, C.B., Vekemans, M., Vokac, N.K., Wagner, K., Wahlstroem, J., Zelante, L, and Tommerup, Niels

Published
2004

42. Molecular detection of constitutional deletions in patients with retinoblastoma

Author

Véronique Blanquet, N. Créau-Goldberg, Jean de Grouchy, and Turleau C

Subjects
Genetics, Cloning, Male, Chromosomes, Human, Pair 13, Retinoblastoma, Eye Neoplasms, Breakpoint, Chromosome Mapping, Karyotype, Biology, medicine.disease, Molecular biology, Pedigree, Complementary DNA, medicine, Humans, Female, Chromosome Deletion, Genes, Retinoblastoma, DNA Probes, Gene, Asymptomatic carrier, Genetics (clinical), Southern blot
Abstract

The recent cloning of the retinoblastoma (RB) gene as well as the identification of intragenic polymorphisms afford the necessary tools for the analysis of rearrangements using molecular hybridization. We searched for constitutional deletions by Southern blotting in 67 in dependent patients with normal karyotype comprising 15 familial and 52 sporadic cases. Among the latter, 33 were bilaterally and 19 unilaterally affected. We detected 6 deletions using cDNA probes covering almost all of the RB gene, as well as a genomic probe of the 5′ part of the gene. With this approach, the incidence of detectable deletions was around 10%. No hot spots for deletion breakpoints were found. Asymptomatic carriers were detected in 2 families. The effectiveness of genetic counselling was largely improved by this approach.

Published
1991

45. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men*

Author

Gekas, J., primary, Thepot, F., additional, Turleau, C., additional, Siffroi, J.P., additional, Dadoune, J.P., additional, Briault, S., additional, Rio, M., additional, Bourouillou, G., additional, Carré-Pigeon, F., additional, Wasels, R., additional, Benzacken, B., additional, and Association des Cytogeneticiensde Langue Francaise, The, additional

Published
2001
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