Les anémies hémolytiques constitutionnelles de causes multiples dévoilées par le séquençage haut-débit

Autor: Mansour-Hendili, Lamisse, Egee, Stéphane, Tarfi, Sihem, Badaoui, Bouchra, De Luna, Gonzalo, Noizat, Clara, Aissat, Abdelrazak, Gameiro, Christine, Faubert, Emmanuelle, Picard, Véronique, Moutereau, Stéphane, Makowski, Caroline, Barro, Claire, Garban, Frédéric, Jebali, Amna, Bartolucci, Pablo, Funalot, Benoît, Galacteros, Frédéric

Publikováno v: In Transfusion clinique et biologique November 2021 28(4) Supplement:S45-S45

A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

Autor: Mousty, Eve, Issa, Sarah, Grosjean, Frédéric, Col, Jean-Yves, Khau van Kien, Philippe, Perez, Marie-Josée, Petrov, Yuliya, Reboul, Dorothée, Faubert, Emmanuelle, Le Gac, Marie-Pascale, Bondurand, Nadège, Chiesa, Jean, Pingault, Véronique

Publikováno v: Prenatal Diagnosis
Prenatal Diagnosis, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩
Prenatal Diagnosis, Wiley, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩

International audience; What's already known about this topic? Waardenburg syndrome is a form of deafness associated with pigmentation abnormalities, two features that cannot been diagnosed in a fetus. Musculoskeletal abnormalities of the upper limbs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1bc257d79efd17617aee2852737e099d
https://hal.umontpellier.fr/hal-03579374

Federal Pharmacare could threaten your coverage quality.

Autor: Faubert, Emmanuelle

Publikováno v: Filipino Post. 3/14/2024, p6-6. 1/3p.

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

Autor: Issa, Sarah, Bondurand, Nadege, Faubert, Emmanuelle, Poisson, Sylvain, Lecerf, Laure, Nitschke, Patrick, Deggouj, Naima, Loundon, Natalie, Jonard, Laurence, David, Albert, Sznajer, Yves, Blanchet, Patricia, Marlin, Sandrine, Pingault, Veronique

Publikováno v: Human Mutation; May2017, Vol. 38 Issue 5, p581-593, 13p

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