Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients von Baux, D., Vaché, C., Blanchet, C., Willems, M., Baudoin, C., Moclyn, M., Faugère, V., Touraine, R., Isidor, B., Dupin-Deguine, D., Nizon, M., Vincent, M., Mercier, S., Calais, C., García-García, G., Azher, Z., Lambert, L., Perdomo-Trujillo, Y., Giuliano, F., Claustres, M., Koenig, M., Mondain, M., Roux, A. F.

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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach von Liautard-Haag, C., Durif, G., VanGoethem, C., Baux, D., Louis, A., Cayrefourcq, L., Lamairia, M., Willems, M., Zordan, C., Dorian, V., Rooryck, C., Goizet, C., Chaussenot, A., Monteil, L., Calvas, P., Miry, C., Favre, R., Le Boette, E., Fradin, M., Roux, A. F., Cossée, M., Koenig, M., Alix-Panabière, C., Guissart, C., Vincent, M. C.

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Audiological findings in 100 USH2 patients von Abadie, C, Blanchet, C, Baux, D, Larrieu, L, Besnard, T, Ravel, P, Biboulet, R, Hamel, C, Malcolm, S, Mondain, M, Claustres, M, Roux, A-F

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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of abov... von Roux, A-F, Faugère, V, Le Guédard, S, Pallares-Ruiz, N, Vielle, A, Chambert, S, Marlin, S, Hamel, C, Gilbert, B, Malcolm, S, Claustres, M

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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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Ureteral sarcoma in a dog von Deschamps, J.-Y, Roux, F.A, Fantinato, M, Albaric, O

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Assessment of a blood preservation protocol for use in ferrets before transfusion von Pignon, C., Donnelly, T. M., Todeschini, C., Deschamps, J. Y., Roux, F. A.

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Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex von Roux, Anne-Francolse, Rommens, Johanna, McDowell, Cathy, Anson-Cartwright, Lynn, Bell, Sherllyn, Schappert, Keith, A.Flshman, Gerry, Musarella, Maria

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Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration von Buret, L, Rebillard, G, Brun, E, Angebault, C, Pequignot, M, Lenoir, M, Do-cruzeiro, M, Tournier, E, Cornille, K, Saleur, A, Gueguen, N, Reynier, P, Amati-Bonneau, P, Barakat, A, Blanchet, C, Chinnery, P, Yu-Wai-Man, P, Kaplan, J, Roux, A-F, Van Camp, G, Wissinger, B, Boespflug-Tanguy, O, Giraudet, F, Puel, J-L, Lenaers, G, Hamel, C, Delprat, B, Delettre, C

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome von Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J

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Genomic sequencing reveals the structure of the Kcnk6 and Map3k11 genes and their close vicinity to the Sipa1 gene on mouse chromosome 19 von Saridaki, A., Ferraz, C., Demaille, J., Scherer, G., Roux, A.-F.

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High magnetic field amplification for improving the sensitivity of Hall sensors von Leroy, P., Coillot, C., Roux, A.F., Chanteur, G.M.

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A heat shock gene at 14q22: mapping and expression von Roux, Anne-Françoise, Nguyen, T.T. Van, Squire, Jeremy A., Cox, Diane W.

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Physical and Transcription Map in the Region 14q24.3: Identification of Six Novel Transcripts von Roux, Anne-Françoise, Rommens, Johanna M., Read, Lynn, Duncan, Alessandra M.V., Cox, Diane W.

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Persistent Left Cranial Vena Cava Causing Oesophageal Obstruction and Consequent Megaoesophagus in a Dog von Larcher, T., Abadie, J., Roux, F.A., Deschamps, J.-Y., Wyers, M.

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SpαV/41 : a common spectrin polymorphism at the αIV-αV domain junction : relevance to the expression level of hereditary elliptocytosis due to α-spectrin variants located in trans... von ALLOISIO, N, MORLE, L, DELAUNAY, J, MARECHAL, J, ROUX, A.-F, DUCLUZEAU, M.-T, GUETARNI, D, POTHIER, B, BAKLOUTI, F, GHANEM, A, KASTALLY, R

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Molecular updates on Usher syndrome von Roux, A-F

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Changes in anion permeability following hypotonic challenge in rat brain endothelial cells: different responses in primary cultures and in immortalised RBE4 cells von von Weikersthal, S.F, Seetharaman, S, Wright, K.A, Roux, F.A, Barrand, M.A

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Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines von Humbertclaude, M, Tuffery-Giraud, Sylvie, Bareil, C., Thèze, C., Paulet, P, Desmet, D, Hamroun, D., Baux, David, Girardet, G, Collod-Béroud, Gwenaëlle, Khau van Kien, P., Roux, A.-F., Des Georges, M., Béroud, Christophe, Claustres, M.

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Genetic mutation databases: stakes and perspectives for orphan genetic diseases von Humbertclaude, V, Tuffery-Giraud, S, Bareil, C, Thèze, C, Paulet, D, Desmet, F-O, Hamroun, D, Baux, D, Girardet, A, Collod-Béroud, G, Khau Van Kien, P, Roux, A-F, des Georges, M, Béroud, C, Claustres, M

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