Search Results - "Puechberty, J"

Chromoanagenesis, the mechanisms of a genomic chaos by Pellestor, F., Gaillard, JB, Schneider, A., Puechberty, J., Gatinois, V.

“…Designated under the name of chromoanagenesis, the phenomena of chromothripsis, chromanasynthesis and chromoplexy constitute new types of complex…”
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Complex chromosomal rearrangements: origin and meiotic behavior by Pellestor, F, Anahory, T, Lefort, G, Puechberty, J, Liehr, T, Hédon, B, Sarda, P

“…Complex chromosomal rearrangements (CCRs) describe structural rearrangements, essentially translocations, involving at least three breakpoints on two or more…”
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Discordant sex in monozygotic XXY/XX twins: a case report by Tachon, G., Lefort, G., Puechberty, J., Schneider, A., Jeandel, C., Boulot, P., Prodhomme, O., Meyer, P., Taviaux, S., Touitou, I., Pellestor, F., Geneviève, D., Gatinois, V.

“…We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive…”
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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation by Guissart, C, Dubucs, C, Raynal, C, Girardet, A, Tran Mau Them, F, Debant, V, Rouzier, C, Boureau-Wirth, A, Haquet, E, Puechberty, J, Bieth, E, Dupin Deguine, D, Khau Van Kien, P, Brechard, M.P, Pritchard, V, Koenig, M, Claustres, M, Vincent, M.C

“…Abstract Background Analysis of cell-free foetal DNA (cff-DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases; in particular,…”
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Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study by Marle, N., Martinet, D., Aboura, A., Joly-Helas, G., Andrieux, J., Flori, E., Puechberty, J., Vialard, F., Sanlaville, D., Fert Ferrer, S., Bourrouillou, G., Tabet, A.C., Quilichini, B., Simon-Bouy, B., Bazin, A., Becker, M., Stora, H., Amblard, S., Doco-Fenzy, M., Molina Gomes, D., Girard-Lemaire, F., Cordier, M.P., Satre, V., Schneider, A., Lemeur, N., Chambon, P., Jacquemont, S., Fellmann, F., Vigouroux-Castera, A., Molignier, R., Delaye, A., Pipiras, E., Liquier, A., Rousseau, T., Mosca, A.L., Kremer, V., Payet, M., Rangon, C., Mugneret, F., Aho, S., Faivre, L., Callier, P.

“…Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de…”
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O-27 Chromosomal analysis of induced pluripotent stem cells derived from senescent cells of elderly persons by Pellestor, F, Lapasset, L, Becker, F, Puechberty, J, Sarda, P, Lemaitre, J.M, Lefort, G

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Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis by Bhatt, S S, Manvelyan, M, Moradkhani, K, Hunstig, F, Mrasek, K, Puechberty, J, Lefort, G, Sarda, P, Weise, A, Liehr, T, Pellestor, F

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Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: A Case Report by Moradkhani, K., Puechberty, J., Bhatt, S., Lespinasse, J., Vago, P., Lefort, G., Sarda, P., Hamamah, S., Pellestor, F.

“…t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian…”
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P-58 When transmission modifies the complexity of familial chromosome rearrangements by Gatinois, V, Lefort, G, Coubes, C, Puechberty, J, Schneider, A, Taviaux, T, Tournaire, M, Di Nicola, M, Girard, M, Sarda, P, Pellestor, F

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Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses by Mosca, A. L., Pinson, L., Andrieux, J., Copin, H., Bigi, N., Puechberty, J., Sarda, P., Receveur, A., Sevestre, H., Pigeonnat, S., Marle, N., Payet, M., Ragon, C., Rousseau, T., Thauvin-Robinet, C., Masurel-Paulet, A., Schneider, A., Laurent, N., Sagot, P., Mugneret, F., Lefort, G., Faivre, L., Callier, P.

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Meiotic segregation of rare Robertsonian translocations: sperm analysis of three t(14q;22q) cases by Moradkhani, K., Puechberty, J., Bhatt, S., Vago, P., Janny, L., Lefort, G., Hamamah, S., Sarda, P., Pellestor, F.

“…BACKGROUND: The t(14;22) remains one of the rare Robertsonian translocations observed in human, with an occurrence estimated at 1.2%. Three cases of rare…”
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Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure by Puechberty, J, Rittore, C, Philibert, L, Lefort, G, Burlet, G, Bénos, P, Reyftmann, L, Sarda, P, Touitou, I

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Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm by Bhatt, S., Moradkhani, K., Mrasek, K., Puechberty, J., Lefort, G., Lespinasse, J., Sarda, P., Liehr, T., Hamamah, S., Pellestor, F.

“…Paracentric inversions (PAI) are structural chromosomal rearrangements generally considered to be harmless. Nevertheless, cases of viable recombinants have…”
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Segregation analysis of two paracentric inversions using a new approach of breakpoint characterization by Bhatt, S, Puechberty, J, Thomas, L, Sarda, P, Hamamah, S, Pellestor, F

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Site-Specific Retrotransposition of L1 Elements within Human Alphoid Satellite Sequences by Laurent, A.M., Puechberty, J., Prades, C., Gimenez, S., Roizès, G.

“…In the course of a search for microsatellites as centromeric polymorphic markers at the 3′ ends ofAluor L1 elements, we observed a much higher frequency of L1…”
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Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations by Schluth-Bolard, C., Diguet, F., Rollat-Farnier, P. A., Amiel, J., Belaud-Rotureau, M. A., Benzacken, B., Callier, P., Chatron, N., Collignon, P., Demeer, Bénédicte, Doco-Fenzy, M., Faivre, L., Gilbert-Dussardier, B., Guerrot, A. M., Jaillard, S., Keren, B., Kremer, V., Lacombe, D., Lebbar, A., Le Caignec, C., Lespinasse, J., Malan, V., Mathieu-Dramard, M., Missirian, C., Moncla, A., Odent, S., Pebrel-Richard, C., Paquis, V., Portnoi, M. F., Puechberty, J., Rooryck-Thambo, C., Satre, V., Tabet, A. C., Touraine, R., Toutain, A., Vekemans, M., Verloes, A., Edery, P., Sanlaville, D.

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Congenital linear streaks on the face and neck and microphthalmia in an infant girl by Kluger, Nicolas, Bouissou, Antoine, Tauzin, Laurent, Puechberty, Jacques, Dereure, Olivier

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A 19-allele polymorphic marker within the centromere of human chromosome 5 by Prades, C, Laurent, A M, Yurov, Y, Puechberty, J, Roizès, G

“…We have detected and characterized a highly polymorphic marker that maps to the centromere of human chromosome 5. The localization was established by both…”
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The meiotic segregation of paracentric inversions: how breakpoint mapping can make the difference by Pellestor, F, Bhatt, S, Puechberty, J, Lefort, G, Liehr, T, Sarda, P, Hamamah, S

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Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure. Authors' reply by PUECHBERTY, J, RITTORE, C, PHILIBERT, L, LEFORT, G, BURLET, G, BENOS, P, REYFTMANN, L, SARDA, P, TOUITOU, I

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