Overview of hospitalizations in women undergoing oocyte retrieval for ART in the French national health data system von Lemardeley, G, Pirrello, O, Dieterlé, S, Zebina, A, Astrugue, C, Jonveaux, P, Lucas-Samuel, S, Couchoud, C

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Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease von Allou, L., Julia, S., Amsallem, D., El Chehadeh, S., Lambert, L., Thevenon, J., Duffourd, Y., Saunier, A., Bouquet, P., Pere, S., Moustaïne, A., Ruaud, L., Roth, V., Jonveaux, P., Philippe, C.

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Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome von Guissart, Claire, Li, Xiuju, Leheup, Bruno, Drouot, Nathalie, Montaut-Verient, Bettina, Raffo, Emmanuel, Jonveaux, Philippe, Roux, Anne-Françoise, Claustres, Mireille, Fliegel, Larry, Koenig, Michel

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Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females von Philippe, C, Amsallem, D, Francannet, C, Lambert, L, Saunier, A, Verneau, F, Jonveaux, P

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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature von Nemos, C, Lambert, L, Giuliano, F, Doray, B, Roubertie, A, Goldenberg, A, Delobel, B, Layet, V, N'guyen, MA, Saunier, A, Verneau, F, Jonveaux, P, Philippe, C

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Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation von El Tannouri, R., Albuisson, E., Jonveaux, P., Luporsi, E.

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Fetal chromosome technique by microarray-based comparative genomic hybridization von Jonveaux, P

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Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation? von El Tannouri, R., Albuisson, E., Jonveaux, P., Luporsi, E.

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MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies von Lambert, L, Bienvenu, T, Allou, L, Valduga, M, Echenne, B, Diebold, B, Mignot, C, Héron, D, Roth, V, Saunier, A, Moustaïne, A, Jonveaux, P, Philippe, C

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A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations von Valduga, M., Philippe, C., Bach Segura, P., Thiebaugeorges, O., Miton, A., Beri, M., Bonnet, C., Nemos, C., Foliguet, B., Jonveaux, P.

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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum von Goizet, C, Boukhris, A, Maltete, D, Guyant-Maréchal, L, Truchetto, J, Mundwiller, E, Hanein, S, Jonveaux, P, Roelens, F, Loureiro, J, Godet, E, Forlani, S, Melki, J, Auer-Grumbach, M, Fernandez, J C, Martin-Hardy, P, Sibon, I, Sole, G, Orignac, I, Mhiri, C, Coutinho, P, Durr, A, Brice, A, Stevanin, G

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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests von Pujol, P., Lyonnet, D. Stoppa, Frebourg, T., Blin, J., Picot, M. C., Lasset, C., Dugast, C., Berthet, P., de Paillerets, B. Bressac, Sobol, H., Grandjouan, S., Soubrier, F., Buecher, B., Guimbaud, R., Lidereau, R., Jonveaux, P., Houdayer, C., Giraud, S., Olschwang, S., Nogue, E., Galibert, V., Bara, C., Nowak, F., Khayat, D., Nogues, C.

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Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature von Agopiantz, M., Corbonnois, P., Sorlin, A., Bonnet, C., Klein, M., Hubert, N., Pascal-Vigneron, V., Jonveaux, P., Cuny, T., Leheup, B., Weryha, G.

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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome von Jiang, Y.L., Rigolet, M., Bourc'his, D., Nigon, F., Bokesoy, I., Fryns, J.P., Hultén, M., Jonveaux, P., Maraschio, P., Mégarbané, A., Moncla, A., Viegas-Péquignot, E.

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Adverse obstetric and perinatal outcome with in vitro fertilization technology: A French nationwide population-based study von Pessione, F., De Mouzon, J., Deveaux, A., Epelboin, S., Gervoise-Boyer, M-J, Jimenez, C., Levy, R., Valentin, M., Viot, G., Bergere, M., Merlet, F., Jonveaux, P.

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Gene–disease relationship discovery based on model-driven data integration and database view definition von Yilmaz, S., Jonveaux, P., Bicep, C., Pierron, L., Smaïl-Tabbone, M., Devignes, M.D.

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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy von Rosas-Vargas, H, Bahi-Buisson, N, Philippe, C, Nectoux, J, Girard, B, N’Guyen Morel, M A, Gitiaux, C, Lazaro, L, Odent, S, Jonveaux, P, Chelly, J, Bienvenu, T

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Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? von Wiedemann, A., Leheup, B., Battaglia-Hsu, S.-F., Jonveaux, P., Jeannesson, E., Feillet, F.

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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations von Luciani, J J, de Mas, P, Depetris, D, Mignon-Ravix, C, Bottani, A, Prieur, M, Jonveaux, P, Philippe, A, Bourrouillou, G, de Martinville, B, Delobel, B, Vallee, L, Croquette, M-F, Mattei, M-G

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High Frequency of t(12;21) in Childhood B-Lineage Acute Lymphoblastic Leukemia von Romana, S.P., Poirel, H., Leconiat, M., Flexor, M.-A., Mauchauffé, M., Jonveaux, P., Macintyre, E.A., Berger, R., Bernard, O.A.

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