The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.

Autor: Bouassida, Malek¹ (AUTHOR) malekbouassida94@hotmail.com, Molina‐Gomes, Denise¹ (AUTHOR), Koraichi, Fairouz¹ (AUTHOR), Hervé, Bérénice¹ (AUTHOR), Lhuilier, Morgane¹ (AUTHOR), Duvillier, Clémence² (AUTHOR), Le Gall, Jessica³ (AUTHOR), Gauthier‐Villars, Marion³ (AUTHOR), Serazin, Valérie¹ (AUTHOR), Quibel, Thibaud² (AUTHOR), Dard, Rodolphe^1,4 (AUTHOR), Vialard, François^1,4 (AUTHOR) francois.vialard@uvsq.fr

Publikováno v: Molecular Genetics & Genomic Medicine. Apr2024, Vol. 12 Issue 4, p1-7. 7p.

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2p25.3 microduplications involving MYT1L:further phenotypic characterization through an assessment of 16 new cases and a literature review

Autor: 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

Publikováno v: European Journal of Human Genetics: EJHG; August 2023, Vol. 31 Issue: 8 p895-904, 10p

Spermatogonial depletion and a spermatogenesis defect in the Dp(16)1Yey mouse model of Down syndrome.

Autor: Dard R; R Dard, genetics, CHI de Poissy-Saint-Germain-en-Laye, Poissy, France., Tutunaru A; A Tutunaru, BFA, Université de Paris, Paris, France., Bouassida M; M Bouassida, Rhuma, BREED, Jouy-en-Josas, France., Balde Camara A; A Balde Camara, Rhuma, BREED, Jouy-en-Josas, France., Parizot E; E Parizot, BFA, Univ Paris Diderot-Sorbonne Paris Cité, Paris, France., Kassis N; N Kassis, BFA, Univ Paris Diderot-Sorbonne Paris Cité, Paris, France., Fortemps J; J Fortemps, pathology, CHI Poissy-Saint-Germain-en-Laye, Saint-Germain-en-Laye, France., Cierniewski C; C Cierniewski, pathology, CHI Poissy-Saint-Germain-en-Laye, Saint-Germain-en-Laye, France., Racine C; C Racine, inserm, Sorbonne Universite, Paris, France., Clemente ND; N Clemente, inserm, Sorbonne Universite, Paris, France., Vialard F; F Vialard, GIG, UFR des Sciences de la Santé, Montigny le bretonneux, France., Janel N; N Janel, BFA, Univ Paris Diderot-Sorbonne Paris Cité, Paris, France.

Publikováno v: Reproduction (Cambridge, England) [Reproduction] 2023 Dec 01. Date of Electronic Publication: 2023 Dec 01.