Search Results - "M-O Rethore"

An ovarian dysgerminoma in Down syndrome. Hypothesis about the association by Satgé, D, Honoré, L, Sasco, A J, Vekemans, M, Chompret, A, Réthoré, M-O

“…An 11-year-old girl with Down syndrome (DS) was operated for a stage I right ovary dysgerminoma. She is in good health 33 years later. Some data in the…”
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De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder by Lespinasse, James, Bugge, M., Réthoré, M.O., North, M.O., Lundsteen, C., Kirchhoff, M.

“…A 23‐year‐old obese woman with a psychotic disorder was found to have a de novo apparently balanced complex chromosomal rearrangement involving chromosomes 1,…”
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Eleven new cases of del(9p) and features from 80 cases by Huret, J L, Leonard, C, Forestier, B, Rethoré, M O, Lejeune, J

“…We report 11 cases of del(9p) and review 69 previously published ones. Of the 80 cases, 39 have a del(9p) as the sole anomaly. The symptoms are typical and…”
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Differences in purine metabolism in patients with Down's syndrome by Peeters, M A, Megarbane, A, Cattaneo, F, Rethore, M O, Lejeune, J

“…Three enzymes intervening in de novo purine synthesis, as well as cystathionine B-synthetase, have been mapped to chromosome 21. In order to gain a better…”
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Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene by ION, R, TELVI, L, CHAUSSAIN, J.-L, BARBET, J. P, NUNES, M, SAFAR, A, RETHORE, M.-O, FELLOUS, M, MCELREAVEY, K

“…In 46,XY individuals, testes are determined by the activity of the SRY gene (sex-determining region Y), located on the short arm of the Y chromosome. The other…”
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Cystathionine beta synthase: gene dosage effect in trisomy 21 by Chadefaux, B, Rethoré, M O, Raoul, O, Ceballos, I, Poissonnier, M, Gilgenkranz, S, Allard, D

“…The enzymatic activity of cystathionine beta synthase has been studied in fibroblasts of nine patients with regular trisomy 21. An excess of CBS activity was…”
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In vivo folic acid supplementation partially corrects in vitro methotrexate toxicity in patients with Down syndrome by Peeters, M A, Rethore, M O, Lejeune, J

“…Patients with Down syndrome have been found to have characteristic in vivo and in vitro methotrexate toxicity. The in vitro methotrexate toxicity…”
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DNA polymorphism analysis in families with recurrence of free trisomy 21 by PANGALOS, C. G, CONOVER TALBOT, C. JR, BINKERT, F, BOUE, J, CORBIN, E, CROQUETTE, M. F, GILGENKRANTZ, S, DE GROUCHY, J, BERTHEAS, M. F, PRIEUR, M, RAOUL, O, SERVILLE, F, LEWIS, J. G, SIFFROI, J. P, THEPOT, F, LEJEUNE, J, ANTONARAKIS, S. E, ADELSBERGER, F. A, PETERSEN, M. B, SERRE, J.-L, RETHORE, M.-O, DE BLOIS, M.-C, PARENT, P, SCHINZEL, A. A

“…We used DNA polymorphic markers on the long arm of human chromosome 21 in order to determine the parental and meiotic origin of the extra chromosome 21 in…”
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Excessive glutamine sensitivity in Alzheimer's disease and Down syndrome lymphocytes by Peeters, Marie A., Salabelle, Aline, Attal, Nadine, Rethore, Marie-Odile, Mircher, Clothilde, Laplane, Dominique, Lejeune, Jérôme

“…In addition to clinical and neuropathological similarities between Alzheimer's disease and Down syndrome there are genetic and biochemical data which suggest…”
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Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases by Lespinasse, J., Réthoré, M.O., North, M.O., Bovier-Lapierre, M., Lundsteen, C., Fert-Ferrer, S., Bugge, M., Kirchoff, M.

“…Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of…”
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Regional mapping of liver type 6 phosphofructokinase isoenzyme on chromosome 21 by CHADEFAUX, B, RETHORE, M. O, ALLARD, D

“…Among several cases of partial monosomies and full and partial trisomies 21, the enzymatic activity of phosphofructokinase (PFK) is increased only in…”
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Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221 by CHADEFAUX, B, ALLARD, D, RETHORE, M. O, RAOUL, O, POISONNIER, M, GILGENKRANTZ, S, CHERUY, C, JEROME, H

“…The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies…”
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Pure partial trisomy of the short arm of chromosome 5 by RETHORE, M. O, DE BLOIS, M. C, PEETERS, M, POPOWSKI, P, PANGALOS, C, LEJEUNE, J

“…We describe a male infant with multiple dysmorphic features who is trisomic for chromosome segment 5p13.32---5p14.2 as a result of recombination aneusomy. His…”
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The 50th anniversary of the discovery of trisomy 21: The past, present, and future of research and treatment of Down syndrome by Mégarbané, André, Ravel, Aimé, Mircher, Clotilde, Sturtz, Franck, Grattau, Yann, Rethoré, Marie-Odile, Delabar, Jean-Maurice, Mobley, William C

“…Trisomy 21 or Down syndrome is a chromosomal disorder resulting from the presence of all or part of an extra Chromosome 21. It is a common birth defect, the…”
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Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21) by Telvi, L, Folhen, M, Raoul, O, Feingold, J, Ponsot, G, Pompidou, A, Rethoré, M O, Lejeune, J

“…A male infant with static antenatal encephalopathy and epilepsy was found to have a duplication of 5p12---5pter and deficiency of 10p13---10pter. Each of his…”
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Reflection analysis: a new optical method. Evidence of mitotic inter-chromosomal RNA by Lejeune, J, de Blois, M C, Rethoré, M O, Ravel, A

“…Giemsa-stained chromosomes, epi-illuminated with white light produced a brilliant image. The chromatids were yellow-green and the areas between the chromosomes…”
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Inverted neurons in agyria: a Golgi study of a case with abnormal chromosome 17 by BORDARIER, C, ROBAIN, O, RETHORE, M.-O, DULAC, O, DHELLEMES, C

“…An anatomoclinical observation of agyria is reported. The karyotype revealed a partial deletion of the short arm of chromosome 17. The etiology of agyria is…”
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Homocysteine and the methotrexate toxicity in trisomy 21 by LEJEUNE, J, PEETERS, M, RETHORE, M.-O, DE BLOIS, M.-C

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Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region by Chettouh, Z, Croquette, M F, Delobel, B, Gilgenkrants, S, Leonard, C, Maunoury, C, Prieur, M, Rethoré, M O, Sinet, P M, Chery, M

“…We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to…”
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A 23-year-old woman with down syndrome, type 1 neurofibromatosis, and breast carcinoma by Satgé, Daniel, Sasco, Annie J., Goldgar, David, Vekemans, Michel, Réthoré, Marie-Odile

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