Search Results - "Bouassida, Malek"

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling by Bouassida, Malek, Molina‐Gomes, Denise, Koraichi, Fairouz, Hervé, Bérénice, Lhuilier, Morgane, Duvillier, Clémence, Le Gall, Jessica, Gauthier‐Villars, Marion, Serazin, Valérie, Quibel, Thibaud, Dard, Rodolphe, Vialard, François

“…Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome…”
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Spermatogonial depletion and a spermatogenesis defect in the Dp(16)1Yey mouse model of Down syndrome by Dard, Rodolphe, Tutunaru, Anastasia, Bouassida, Malek, Balde Camara, Aissatu, Parizot, Estelle, Kassis, Nadim, Fortemps, Joanne, Cierniewski, Céline, Racine, Chrystèle, Clemente, Nathalie di, Vialard, Francois, Janel, Nathalie

“…Down syndrome (DS), or Trisomy 21, is the most common chromosomal disorder in humans. Men with DS are infertile. The DYRK1A gene on Hsa21 is involved in…”
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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review by Bouassida, Malek, Egloff, Matthieu, Levy, Jonathan, Chatron, Nicolas, Bernardini, Laura, Le Guyader, Gwenaël, Tabet, Anne-Claude, Schluth-Bolard, Caroline, Brancati, Francesco, Giuffrida, Maria Grazia, Dard, Rodolphe, Clorennec, Juliette, Coursimault, Juliette, Vialard, François, Hervé, Bérénice

“…Microduplications involving the MYT1L gene have mostly been described in series of patients with isolated schizophrenia. However, few reports have been…”
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