Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum
Abdelhedi, Fatma, El Khattabi, Laila, Cuisset, Laurence, Tsatsaris, Vassilis, Viot, Geraldine, Druart, Luc, Lebbar, Aziza, Dupont, Jean-Michel
Published in American journal of clinical pathology (01.08.2014)
Published in American journal of clinical pathology (01.08.2014)
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Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11
WENTZEL, Christian, RAJCAN-SEPAROVIC, Evica, PORTNOI, Marie-France, STATTIN, Eva-Lena, VINCENT-DELORME, Catherine, KANT, Sarina G, STEINRATHS, Michelle, MARLIN, Sandrine, GIURGEA, Irina, THURESSON, Ann-Charlotte, RUIVENKAMP, Claudia A. L, CHANTOT-BASTARAUD, Sandra, METAY, Corinne, ANDRIEUX, Joris, ANNEREN, Göran, GIJSBERS, Antoinet C. J, DRUART, Luc, HYON, Capucine
Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
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Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations
Haddad, Véronique, Aboura, Azzedine, Tosca, Lucie, Guediche, Narjes, Mas, Anne‐Elisabeth, L'Herminé, Aurore Coulomb, Druart, Luc, Picone, Olivier, Brisset, Sophie, Tachdjian, Gérard
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
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Genotype–phenotype correlation in 13q13.3–q21.3 deletion
Tosca, Lucie, Brisset, Sophie, Petit, François M, Metay, Corinne, Latour, Stéphanie, Lautier, Benoît, Lebas, Axel, Druart, Luc, Picone, Olivier, Mas, Anne-Elisabeth, Prévot, Sophie, Tardieu, Marc, Goossens, Michel, Tachdjian, Gérard
Published in European journal of medical genetics (01.09.2011)
Published in European journal of medical genetics (01.09.2011)
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Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12
Cacheux, V, Martasek, P, Fougerousse, F, Delfau, M H, Druart, L, Tachdjian, G, Grandchamp, B
Published in Human genetics (01.11.1994)
Published in Human genetics (01.11.1994)
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Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations
Haddad, Véronique, Aboura, Azzedine, Tosca, Lucie, Guediche, Narjes, Mas, Anne-Elisabeth, L'Herminé, Aurore Coulomb, Druart, Luc, Picone, Olivier, Brisset, Sophie, Tachdjian, Gérard
Published in American Journal of Medical Genetics Part A (01.04.2012)
Published in American Journal of Medical Genetics Part A (01.04.2012)
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Prenatal diagnosis of a (X;X) translocation by fluorescence in situ hybridization and laser scanning image cytometry
Tachdjian, G, Cacheux, V, Kiefer, H, Druart, L, Lapierre, J M, Oury, J F, Blot, P, Metezeau, P
Published in Fetal diagnosis and therapy (01.11.1995)
Published in Fetal diagnosis and therapy (01.11.1995)
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