Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability von Thuresson, Ann‐Charlotte, Soussi Zander, Cecilia, Zhao, Jin J., Halvardson, Jonatan, Maqbool, Khurram, Månsson, Else, Stenninger, Eric, Holmlund, Ulrika, Öhrner, Ylva, Feuk, Lars

Volltext

Beckwith-Wiedemann Syndrome Revisited von Zander, Cecilia Soussi

Volltext

Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay von Thuresson, Ann‐Charlotte, Brazina, Jan, Akram, Talia, Albrecht, Julia, Dahl, Niklas, Soussi Zander, Cecilia, Caldecott, Keith W.

Volltext

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability von Zhao, Jin J., Halvardson, Jonatan, Zander, Cecilia S., Zaghlool, Ammar, Georgii‐Hemming, Patrik, Månsson, Else, Brandberg, Göran, Sävmarker, Helena E., Frykholm, Carina, Kuchinskaya, Ekaterina, Thuresson, Ann‐Charlotte, Feuk, Lars

Volltext

Mutations in HECW2 are associated with intellectual disability and epilepsy von Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Feuk, Lars

Volltext

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures von Thierry, Gaelle, Bénéteau, Claire, Pichon, Olivier, Flori, Elisabeth, Isidor, Bertrand, Popelard, Françoise, Delrue, Marie-Ange, Duboscq-Bidot, Laetitia, Thuresson, Ann-Charlotte, van Bon, Bregje W.M., Cailley, Dorothée, Rooryck, Caroline, Paubel, Agathe, Metay, Corinne, Dusser, Anne, Pasquier, Laurent, Béri, Mylène, Bonnet, Céline, Jaillard, Sylvie, Dubourg, Christèle, Tou, Bassim, Quéré, Marie-Pierre, Soussi-Zander, Cecilia, Toutain, Annick, Lacombe, Didier, Arveiler, Benoit, de Vries, Bert B.A., Jonveaux, Philippe, David, Albert, Le Caignec, Cédric

Volltext

Changes in mortality and causes of death in the Swedish Down syndrome population von Englund, Annika, Jonsson, Björn, Zander, Cecilia Soussi, Gustafsson, Jan, Annerén, Göran

Volltext

Proximal Deletion 12q with a New Insight to Growth Retardation von Sobol, Maria, Thuresson, Ann-Charlotte, Palmberg, Nathalie, Soussi Zander, Cecilia

Volltext

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content von Takahashi, Junko, Fujigasaki, Hiroto, Zander, Cecilia, El Hachimi, Khalid H., Stevanin, Giovanni, Dürr, Alexandra, Lebre, Anne‐Sophie, Yvert, Gaël, Trottier, Yvon, Thé, Hugues de, Hauw, Jean‐Jacques, Duyckaerts, Charles, Brice, Alexis

Volltext

Breast-cancer stromal cells with TP53 mutations von Roukos, Dimitrios H

Volltext

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development von Thuresson, A‐C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton Smith, J., Soussi Zander, C.

Volltext

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions von LEBRE, Anne-Sophie, JAMOT, Laure, CAMONIS, Jacques H, BRICE, Alexis, TAKAHASHI, Junko, SPASSKY, Nathalie, LEPRINCE, Corinne, RAVISE, Nicole, ZANDER, Cécilia, FUJIGASAKI, Hiroto, KUSSEL-ANDERMANN, Polonka, DUYCKAERTS, Charles

Volltext

Breast-cancer stromal cells with TP53 mutations von Zander, Cecilia Soussi, Soussi, Thierry

Volltext

Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method von Lindblad, Kerstin, Nylander, Per-Olof, De bruyn, An, Sourey, Daniel, Zander, Cecilia, Engström, Christer, Holmgren, Gösta, Hudson, Tom, Chotai, Jayanti, Mendlewicz, Julien, Van Broeckhoven, Christine, Schalling, Martin, Adolfsson, Rolf

Volltext

Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development von Thuresson, Ann-Charlotte, Van Buggenhout, Griet, Sheth, Frenny, Kamate, Mahesh, Andrieux, Joris, Clayton Smith, Jill, Soussi Zander, Cecilia

Volltext

Breast-cancer stromal cells with TP53 mutations von Zalcman, Gérard, Bergot, Emmanuel, Hainaut, Pierre

Volltext

Breast-Cancer Stromal Cells with TP53 Mutations von Campbell, Ian G, Qiu, Wen, Polyak, Kornelia, Haviv, Izhak

Volltext

SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family von Fujigasaki, Hiroto, Verma, Ishwar C., Camuzat, Agnès, Margolis, Russell L., Zander, Cecilia, Lebre, Anne-Sophie, Jamot, Laure, Saxena, Renu, Anand, Ish, Holmes, Susan E., Ross, Christopher A., Dürr, Alexandra, Brice, Alexis

Volltext

Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay von Thuresson, Ann-Charlotte, Brazina, Jan, Akram, Talia, Albrecht, Julia, Dahl, Niklas, Soussi Zander, Cecilia, Caldecott, Keith W

Volltext bestellen

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity von Latouche, Morwena, Fragner, Pascal, Martin, Elodie, El Hachimi, Khalid H., Zander, Cecilia, Sittler, Annie, Ruberg, Merle, Brice, Alexis, Stevanin, Giovanni

Volltext