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WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 5, p. 267, doi. 10.1038/jhg.2015.17
By:
- Valduga, Mylène;
- Philippe, Christophe;
- Lambert, Laetitia;
- Bach-Segura, Pascale;
- Schmitt, Emmanuelle;
- Masutti, Jean Pierre;
- François, Bénédicte;
- Pinaud, Patrick;
- Vibert, Mireille;
- Jonveaux, Philippe
Publication type:
Article
TCF12 microdeletion in a 72-year-old woman with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1897, doi. 10.1002/ajmg.a.37083
By:
- Piard, Juliette;
- Rozé, Virginie;
- Czorny, Alain;
- Lenoir, Marion;
- Valduga, Mylène;
- Fenwick, Aimée L.;
- Wilkie, Andrew O. M.;
- Maldergem, Lionel Van
Publication type:
Article
Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2618, doi. 10.1002/ajmg.a.36662
By:
- Piard, Juliette;
- Mignot, Brigitte;
- Arbez‐Gindre, Francine;
- Aubert, Didier;
- Morel, Yves;
- Roze, Virginie;
- McElreavy, Kenneth;
- Jonveaux, Philippe;
- Valduga, Mylène;
- Van Maldergem, Lionel
Publication type:
Article
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2594, doi. 10.1002/ajmg.a.36097
By:
- Auger, Julie;
- Bonnet, Céline;
- Valduga, Mylène;
- Philippe, Christophe;
- Bertolo‐Houriez, Emmanuelle;
- Beri‐Dexheimer, Mylène;
- Schweitzer, Cyril;
- Leheup, Bruno;
- Jonveaux, Philippe
Publication type:
Article
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35878
By:
- Mosca‐Boidron, Anne‐Laure;
- Valduga, Mylène;
- Thauvin‐Robinet, Christel;
- Lagarde, Nathalie;
- Marle, Nathalie;
- Henry, Céline;
- Pinoit, Jean‐Michel;
- Huet, Frédéric;
- Béri‐Deixheimer, Mylène;
- Ragon, Clémence;
- Gueneau, Lucie;
- Payet, Muriel;
- Callier, Patrick;
- Mugneret, Francine;
- Jonveaux, Philippe;
- Faivre, Laurence
Publication type:
Article
Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.
Published in:
Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01871
By:
- Sloboda, Natacha;
- Sorlin, Arthur;
- Valduga, Mylène;
- Beri-Dexheimer, Mylène;
- Bilbault, Claire;
- Fouyssac, Fanny;
- Becker, Aurélie;
- Lambert, Laëtitia;
- Bonnet, Céline;
- Leheup, Bruno
Publication type:
Article
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Published in:
Genes, 2022, v. 13, n. 11, p. 2027, doi. 10.3390/genes13112027
By:
- Kleinfinger, Pascale;
- Luscan, Armelle;
- Descourvieres, Léa;
- Buzas, Daniela;
- Boughalem, Aicha;
- Serero, Stéphane;
- Valduga, Mylène;
- Trost, Detlef;
- Costa, Jean-Marc;
- Vivanti, Alexandre J.;
- Lohmann, Laurence
Publication type:
Article
Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1375770
By:
- Boughalem, Aïcha;
- Ciorna-Monferrato, Viorica;
- Sloboda, Natacha;
- Guegan, Amélie;
- Page, François;
- Zimmer, Sophie;
- Benazra, Marion;
- Kleinfinger, Pascale;
- Lohmann, Laurence;
- Valduga, Mylène;
- Receveur, Aline;
- Martin, Fernando;
- Trost, Detlef
Publication type:
Article

Found: 8