P-539 Effects of gender of chromosomal translocation's carrier on pre-implantation genetic testing for structural rearrangement (PGT-SR) outcomes

Authors: Houissa Ediss, H, Reignier, A, Lammers, J, Moradkhani, K, Freour, T, Loubersac, S

Source: Human reproduction. 37(Supplement 1)

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Inverted Segment Size and the Presence of Recombination Hot Spot Clusters Matter in Sperm Segregation Analysis

Authors: Bhatt, S. S., Manvelyan, M., Moradkhani, K., Hunstig, F., Mrasek, K., Puechberty, J., Lefort, G., Sarda, P., Weise, A., Liehr, T.

Source: CYTOGENETIC AND GENOME RESEARCH. 142(2):145-149

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Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Authors: Giardine, B., Borg, J., Viennas, E., Pavlidis, C., Moradkhani, K., Joly, P., Bartsakoulia, M., Riemer, C., Miller, W., Tzimas, G.

Source: NUCLEIC ACIDS RESEARCH. 42(D1):D1063-D1069

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Estimation of the difference in HbF expression due to loss of the 5' delta -globin BCL11A binding region

Authors: Ghedira, E.S., Lecerf, L., Faubert, E., Costes, B., Moradkhani, K., Bachir, D., Galacteros, F., Pissard, S.

Source: HAEMATOLOGICA -PAVIA THEN ROMA-. 98(2):305-308

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Pitfalls in the genetic diagnosis of Hb S

Authors: Moradkhani, K., Riou, J., Wajcman, H.

Source: CLINICAL BIOCHEMISTRY -OTTAWA THEN NEW YORK- PERGAMON PRESS THEN ELSEVIER SCIENCE. 46(4-5):291-299

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN327267125&indx=1&recIds=ETOCRN327267125

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia

Authors: Benmansour, I., Moradkhani, K., Moumni, I., Wajcman, H., Hafsia, R., Ghanem, A., Abbes, S., Prehu, C.

Source: BLOOD CELLS MOLECULES AND DISEASES. 50(2):110-114

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN324816482&indx=1&recIds=ETOCRN324816482

Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis

Authors: Bartolucci, P., Brugnara, C., Teixeira-Pinto, A., Pissard, S., Moradkhani, K., Jouault, H., Galacteros, F.

Source: BLOOD -NEW YORK-. 120(15):3136-3141

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Comparison of Two Known Chromosomal Rearrangements in the db-Globin Complex with Identical DNA Breakpoints But Causing Different Hb A2 Levels

Authors: Saller, E., Moradkhani, K., Dutly, F., Vinatier, I., Prehu, C., Frischknecht, H., Goossens, M.

Source: HEMOGLOBIN -NEW YORK-. 36(2):177-182

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Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the 'old' and update of the new mutations

Authors: Minucci, A., Moradkhani, K., Hwang, M. J., Zuppi, C., Giardina, B., Capoluongo, E.

Source: BLOOD CELLS MOLECULES AND DISEASES. 48(3):154-165

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Abnormal haemoglobins: detection & characterization
Haemoglobinopathies

Authors: Wajcman, H., Moradkhani, K.

Source: INDIAN JOURNAL OF MEDICAL RESEARCH. 134(4):538-546

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN302605451&indx=1&recIds=ETOCRN302605451

A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A− (68Val>Met, 126Asn>Asp)

Authors: Moradkhani, K., Bahuau, M., Préhu, C., Martin, N., Bimet, C., Galactéros, F., Wajcman, H.

Source: BLOOD CELLS MOLECULES AND DISEASES. 43(3):226-229

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN260472287&indx=1&recIds=ETOCRN260472287

Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants

Authors: Moradkhani, K., Préhu, C., Old, J., Henderson, S., Balamitsa, V., Luo, H. Y., Poon, M. C., Chui, D. H., Wajcman, H., Patrinos, G. P.

Source: ANNALS OF HEMATOLOGY. 88(6):535-543

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Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

Authors: Bhatt, S., Moradkhani, K., Mrasek, K., Puechberty, J., Manvelyan, M., Hunstig, F., Lefort, G., Weise, A., Lespinasse, J., Sarda, P.

Source: EUROPEAN JOURNAL OF HUMAN GENETICS. 17(1):44-50

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Hb Gerland [α55(E4)Val→Ala]: A Mutation Found on the α1-Globin Gene

Authors: Moradkhani, K., Riou, J., Francina, A., Wajcman, H., Prehu, C.

Source: HEMOGLOBIN -NEW YORK-. 32(5):478-484

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN238739614&indx=1&recIds=ETOCRN238739614

An α0-Thalassemia-Like Mutation: Hb Suan-Dok [α109(G16)Leu→Arg] Carried by a Recombinant -α3.7 Gene

Authors: Moradkhani, K., Mazurier, E., Giordano, P., Wajcman, H., Prehu, C.

Source: HEMOGLOBIN -NEW YORK-. 32(4):419-424

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN234086636&indx=1&recIds=ETOCRN234086636

Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Authors: Al-Sheikh, M., Moradkhani, K., Lopez, M., Wajcman, H., Préhu, C.

Source: BLOOD CELLS MOLECULES AND DISEASES. 40(2):160-165

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN223960776&indx=1&recIds=ETOCRN223960776

Hb Niigata [β1(Na1)Val→Leu] in a Romanian Individual Resulting from Another Nucleotide Substitution than that Found in the Japanese

Authors: Moradkhani, K., Henthorn, J., Riou, J., Phelan, L., Pré, hu, C., Wajcman, H.

Source: HEMOGLOBIN -NEW YORK-. 31(4):477-482

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Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm

Authors: Bhatt, S., Moradkhani, K., Mrasek, K., Puechberty, J., Lefort, G., Lespinasse, J., Sarda, P., Liehr, T., Hamamah, S., Pellestor, F.

Source: MOLECULAR HUMAN REPRODUCTION. 13(9/10):751-756

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN218430604&indx=1&recIds=ETOCRN218430604

Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms

Authors: Moradkhani, K., Puechberty, J., Blanchet, P., Coubes, C., Lallaoui, H., Lewin, P., Lefort, G., Sarda, P.

Source: PRENATAL DIAGNOSIS -JOHN WILEY AND SONS LIMITED-. 26(12):1179-1182

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN198877187&indx=1&recIds=ETOCRN198877187

Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: A Case Report

Authors: Moradkhani, K., Puechberty, J., Bhatt, S., Lespinasse, J., Vago, P., Lefort, G., Sarda, P., Hamamah, S., Pellestor, F.

Source: HUMAN REPRODUCTION. 21(12):3193-3198

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN198674197&indx=1&recIds=ETOCRN198674197