Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene
Kaltenbach, S, Capri, Y, Rossignol, S, Denjoy, I, Soudée, S, Aboura, A, Baumann, C, Verloes, A
Published in Clinical genetics (01.07.2013)
Published in Clinical genetics (01.07.2013)
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Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis
Vialard, F., Simoni, G., Aboura, A., De Toffol, S., Molina Gomes, D., Marcato, L., Serero, S., Clement, P., Bouhanna, P., Rouleau, E., Grimi, B., Selva, J., Gaetani, E., Maggi, F., Joseph, A., Benzacken, B., Grati, F. R.
Published in Prenatal diagnosis (01.05.2011)
Published in Prenatal diagnosis (01.05.2011)
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Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study
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.
Published in Clinical genetics (01.03.2014)
Published in Clinical genetics (01.03.2014)
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2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Jaillard, S, Dubourg, C, Gérard-Blanluet, M, Delahaye, A, Pasquier, L, Dupont, C, Henry, C, Tabet, A-C, Lucas, J, Aboura, A, David, V, Benzacken, B, Odent, S, Pipiras, E
Published in Journal of medical genetics (01.12.2009)
Published in Journal of medical genetics (01.12.2009)
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Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients
Portnoï, M.F., Aboura, A., Tachdjian, G., Bouchard, P., Dewailly, D., Bourcigaux, N., Frydman, R., Reyss, Anne-Céline, Brisset, Sophie, Christin-Maitre, S.
Published in Human reproduction (Oxford) (01.09.2006)
Published in Human reproduction (Oxford) (01.09.2006)
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Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement?
VIGUIE, F, ABOURA, A, BOUSCARY, D, RAMOND, S, DELMER, A, TACHDJIAN, G, MARIE, J. P, CASADEVALL, N
Published in Leukemia (01.08.2005)
Published in Leukemia (01.08.2005)
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Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3
Delahaye, A, Toutain, A, Aboura, A, Dupont, C, Tabet, A.C, Benzacken, B, Elion, J, Verloes, A, Pipiras, E, Drunat, S
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
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3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome
Dupont, C, Guimiot, F, Perrin, L, Marey, I, Smiljkovski, D, Le Tessier, D, Lebugle, C, Baumann, C, Bourdoncle, P, Tabet, A-C, Aboura, A, Benzacken, B, Dupont, J-M
Published in Clinical genetics (01.08.2012)
Published in Clinical genetics (01.08.2012)
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Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis
Guimiot, F., Dupont, C., Fuentes‐Duarte, A., Aboura, A., Bazin, A., Khung‐Savatovsky, S., Tillous‐Borde, I., Delezoide, A.‐L., Azancot, A.
Published in American journal of medical genetics. Part A (01.01.2013)
Published in American journal of medical genetics. Part A (01.01.2013)
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Terminal 14q32.33 deletion: Genotype–phenotype correlation
Maurin, M‐L., Brisset, S., Le Lorc'h, M., Poncet, V., Trioche, P., Aboura, A., Labrune, P., Tachdjian, G.
Published in American journal of medical genetics. Part A (01.11.2006)
Published in American journal of medical genetics. Part A (01.11.2006)
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Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: Case report
Brisset, S., Izard, V., Misrahi, M., Aboura, A., Madoux, S., Ferlicot, S., Schoevaert, D., Soufir, J.C., Frydman, R., Tachdjian, G.
Published in Human reproduction (Oxford) (01.08.2005)
Published in Human reproduction (Oxford) (01.08.2005)
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Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation
Mabboux, P., Brisset, S., Aboura, A., Pineau, D., Koubi, V., Joannidis, S., Labrune, P., Tachdjian, G.
Published in American journal of medical genetics. Part A (01.04.2007)
Published in American journal of medical genetics. Part A (01.04.2007)
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Prenatal Diagnosis of 18q-Syndrome: A Case of Fetal Mosaicism with a Normal Karyotype in Chorionic Villi
Anselem, O., Bazin, A., Mechler, C., Blin, G., Garel, C., Aboura, A., Moutard, M.-L., Mandelbrot, L.
Published in Fetal diagnosis and therapy (01.10.2010)
Published in Fetal diagnosis and therapy (01.10.2010)
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Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15
L'Herminé, A. Coulomb, Aboura, A., Brisset, S., Cuisset, L., Castaigne, V., Labrune, P., Frydman, R., Tachdjian, G.
Published in Prenatal diagnosis (01.11.2003)
Published in Prenatal diagnosis (01.11.2003)
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Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype
Kanafani, S., Aboura, A., Pipiras, E., Carbillon, L., Tabet, A. C., Largillière, C., Garel, C., Gressens, P., Bucourt, M., Cedrin‐Durnerin, I., Lachassinne, E., Roumegoux, C., Uzan, M., Hugues, J. N., Wolf, J. P., Benzacken, B.
Published in Prenatal diagnosis (01.03.2007)
Published in Prenatal diagnosis (01.03.2007)
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De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern
Tachdjian, G., Aboura, A., Benkhalifa, M., Creveaux, I., Foix-Hélias, L., Gadisseux, J.F., Boespflug-Tanguy, O., Mohammed, M., Labrune, P.
Published in American journal of medical genetics. Part A (15.12.2004)
Published in American journal of medical genetics. Part A (15.12.2004)
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Journal Article
Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo-fetal development anomalies
Tabet, A. C., Aboura, A., Dauge, M. C., Audibert, F., Coulomb, A., Batallan, A., Couturier-Turpin, M. H., Feldmann, G., Tachdjian, G.
Published in Prenatal diagnosis (01.08.2001)
Published in Prenatal diagnosis (01.08.2001)
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Journal Article
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)
Coulomb L'Herminé, A., Aboura, A., Simon-Bouy, B., Robin, F., Audibert, F., Strouk, N., Capron, F., Frydman, R., Tachdjian, G.
Published in Prenatal diagnosis (01.08.2002)
Published in Prenatal diagnosis (01.08.2002)
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Journal Article
Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature
Tachdjian, G, Perreaux, F, Aboura, A, Chevalier, P, Portnoi, M-F, Esteva, B, Trioche, P, Labrune, P
Published in Clinical genetics (01.02.2002)
Published in Clinical genetics (01.02.2002)
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