Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
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
Published in Scientific reports (01.12.2017)
Published in Scientific reports (01.12.2017)
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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
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.
Published in Scientific reports (06.07.2022)
Published in Scientific reports (06.07.2022)
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Audiological findings in 100 USH2 patients
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
Published in Clinical genetics (01.11.2012)
Published in Clinical genetics (01.11.2012)
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Journal Article
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 above 90
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
Published in Journal of medical genetics (01.09.2006)
Published in Journal of medical genetics (01.09.2006)
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Ureteral sarcoma in a dog
Deschamps, J.-Y, Roux, F.A, Fantinato, M, Albaric, O
Published in Journal of small animal practice (01.12.2007)
Published in Journal of small animal practice (01.12.2007)
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Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome
Guissart, Claire, Li, Xiuju, Leheup, Bruno, Drouot, Nathalie, Montaut-Verient, Bettina, Raffo, Emmanuel, Jonveaux, Philippe, Roux, Anne-Françoise, Claustres, Mireille, Fliegel, Larry, Koenig, Michel
Published in Human molecular genetics (15.01.2015)
Published in Human molecular genetics (15.01.2015)
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Assessment of a blood preservation protocol for use in ferrets before transfusion
Pignon, C., Donnelly, T. M., Todeschini, C., Deschamps, J. Y., Roux, F. A.
Published in Veterinary record (15.03.2014)
Published in Veterinary record (15.03.2014)
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Journal Article
Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex
Roux, A F, Rommens, J, McDowell, C, Anson-Cartwright, L, Bell, S, Schappert, K, Fishman, G A, Musarella, M
Published in Human molecular genetics (01.02.1994)
Published in Human molecular genetics (01.02.1994)
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Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration
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
Published in Cell death discovery (07.03.2016)
Published in Cell death discovery (07.03.2016)
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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
ALLOISIO, N, MORLE, L, DELAUNAY, J, MARECHAL, J, ROUX, A.-F, DUCLUZEAU, M.-T, GUETARNI, D, POTHIER, B, BAKLOUTI, F, GHANEM, A, KASTALLY, R
Published in The Journal of clinical investigation (01.06.1991)
Published in The Journal of clinical investigation (01.06.1991)
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Journal Article
Persistent Left Cranial Vena Cava Causing Oesophageal Obstruction and Consequent Megaoesophagus in a Dog
Larcher, T., Abadie, J., Roux, F.A., Deschamps, J.-Y., Wyers, M.
Published in Journal of comparative pathology (01.08.2006)
Published in Journal of comparative pathology (01.08.2006)
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Journal Article
Changes in anion permeability following hypotonic challenge in rat brain endothelial cells: different responses in primary cultures and in immortalised RBE4 cells
von Weikersthal, S.F, Seetharaman, S, Wright, K.A, Roux, F.A, Barrand, M.A
Published in FEBS letters (17.11.1997)
Published in FEBS letters (17.11.1997)
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Journal Article
Spectrin Oran (αII/21), a new spectrin variant concerning the αII domain and causing severe elliptocytosis in the homozygous state
ALLOISIO, N, MORLE, L, POTHIER, B, ROUX, A.-F, MARECHAL, J, DUCLUZEAU, M.-T, BENHADJI-ZOUAOUI, Z, DELAUNAY, J
Published in Blood (01.04.1988)
Published in Blood (01.04.1988)
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Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines
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.
Published in Pathologie biologie (Paris) (01.10.2010)
Published in Pathologie biologie (Paris) (01.10.2010)
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Spectrin Tunis (SpαI/78), an elliptocytogenic variant, is due to the CGG→TGG codon change (Arg→Trp) at position 35 of the αI domain
MORLE, L, ROUX, A. F, GODET, J, FORGET, B. G, DENOROY, L, GARBARZ, M, DHERMY, D, KASTALLY, R, DELAUNAY, J
Published in Blood (01.08.1989)
Published in Blood (01.08.1989)
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