10q26 deletion syndrome: a French cohort study

Autor: Thorn, Hugo, Odent, Sylvie, Levy, Jonathan, Tabet, Anne-Claude, Thevenon, Julien, Caignec, Cedric Le, Schaefer, Elise, Frebourg, Thierry, Schluth-Bolard, Caroline, Plutino, Morgane, Chehadeh, Salima El, Philippe, Anais, Scheidecker, Sophie, Calmels, Nadege, Schalk, Audrey, Goldenberg, Alice, Guerot, Anne-Marie, Meur, Nathalie Le, Cassinari, Kevin, Ruaud, Lyse, Rachid, Myriam, Januel, Louis, Bonnet-Dupeyron, Marie-Noëlle, Carneiro, Maryline, Bieth, Eric, Plaisancie, Julie, Coutton, Charles, Harbuz, Radu, Dieterich, Klaus, Nadeau, Gwenaël, Vieville, Gaelle, Fradin, Melanie, Poirsier, Celine, Spodenkiewicz, Marta, Landais, Emilie, Doco-Fenzy, Martine

Publikováno v: Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters. Eur J Hum Genet 30, 88–608 (2022).
54th European Society of Human Genetics (ESHG) Conference
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324, ⟨10.1038/s41431-021-01026-1⟩

International audience; 10q26 deletion syndrome (OMIM #609625) is a rare autosomal dominant genetic disorder with about 100 patients reported. Most cases are sporadic. Global development delay, short stature, microcephaly and typical facial appearanc

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Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.

Autor: Masurel‐Paulet, Alice, Drumare, Isabelle, Holder, Muriel, Cuisset, Jean‐Marie, Vallée, Louis, Defoort, Sabine, Bourgois, Béatrice, Pernes, Philippe, Cuvellier, Jean‐Christophe, Huet, Frédéric, Chehadeh, Salima El, Thevenon, Julien, Callier, Patrick, Thauvin, Christel, Faivre, Laurence, Andrieux, Joris

Publikováno v: American Journal of Medical Genetics. Part A; Jun2014, Vol. 164A Issue 6, p1537-1544, 8p

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

Autor: Thevenon, Julien, Callier, Patrick, Poquet, Hélène, Bache, Iben, Menten, Bjorn, Malan, Valérie, Cavaliere, Maria Luigia, Girod, Jean-Paul, Thauvin-Robinet, Christel, Chehadeh, Salima El, Pinoit, Jean-Michel, Huet, Frederic, Verges, Bruno, Petit, Jean-Michel, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Mugneret, Francine, Masurel-Paulet, Alice, Novelli, Antonio, Tümer, Zeynep

Publikováno v: Journal of Medical Genetics; Jan2014, Vol. 51 Issue 1, p21-27, 7p

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Autor: Gueneau L; EA 4271 GAD « Génétique et Anomalies du Développement », IFR 100 - Sante STIC, Université de Bourgogne, Dijon, France., Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Feb; Vol. 164A (2), pp. 522-7. Date of Electronic Publication: 2013 Dec 05.