Search Results - "Moradkhani, K"

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications by Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt‐Marie, Tammimies, Kristiina

“…Background Variable size deletions affecting 12q12 have been found in individuals with neurodevelopmental disorders (NDDs) and distinct facial and physical…”
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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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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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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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Mosaic maternal uniparental isodisomy for chromosome 7q21-qter by Reboul, M-P, Tandonnet, O, Biteau, N, Belet-de Putter, C, Rebouissoux, L, Moradkhani, K, Vu, PY, Saura, R, Arveiler, B, Lacombe, D, Taine, L, Iron, A

“…Uniparental disomy (UPD) for several human chromosomes is associated with clinical abnormalities. We report the case of a 2‐year‐old boy with severe…”
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P-539 Effects of gender of chromosomal translocation's carrier on pre-implantation genetic testing for structural rearrangement (PGT-SR) outcomes by Houissa Ediss, H, Reignier, A, Lammers, J, Moradkhani, K, Freour, T, Loubersac, S

“…Abstract Study question Do the outcomes of PGT-SR cycles vary according to the gender of chromosomal translocation’s carrier? Summary answer The rate of…”
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Estimation of the difference in HbF expression due to loss of the 5'  -globin BCL11A binding region by Ghedira, E. S., Lecerf, L., Faubert, E., Costes, B., Moradkhani, K., Bachir, D., Galacteros, F., Pissard, S.

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Chronic hemolytic anemia due to novel  -globin chain variants: critical location of the mutation within the gene sequence for a dominant effect by Prehu, C., Moradkhani, K., Riou, J., Bahuau, M., Launay, P., Martin, N., Wajcman, H., Goossens, M., Galacteros, F.

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Original Article: Mosaic maternal uniparental isodisomy for chromosome 7q21-qter by M-P Reboul, Tandonnet, O, Biteau, N, Belet-de Putter, C, Rebouissoux, L, Moradkhani, K, Vu, P Y, Saura, R, Arveiler, B, Lacombe, D, Taine, L, Iron, A

“…Reboul M-P, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A. Mosaic maternal…”
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Les atteintes rénales, les ulcères cutanés et le priapisme sont associés à un pourcentage élevé de globules rouges denses au cours de la drépanocytose by Bartolucci, P., Brugnara, C., Teixeira-Pinto, A., Pissard, S., Moradkhani, K., Jouault, H., Prehu, C., Galacteros, F.

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The common fragile site FRA16C does not map within the 16q smallest region of overlap number 2 frequently lost in breast carcinoma by Taine, Laurence, Rocca-Serra, Philippe, El Moneim, Azza Abd, Verdier, Nathalie, Moradkhani, Kamran, Saura, Robert, Gorry, Philippe, Longy, Michel, Bonnet, Françoise

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