Search Results - "Stoetzel, C"

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort by Sathya Priya, C., Sen, P., Umashankar, V., Gupta, N., Kabra, M., Kumaramanickavel, G., Stoetzel, C., Dollfus, H., Sripriya, S.

“…Bardet–Biedl syndrome (BBS), a ciliopathy disorder with pleiotropic effect manifests primarily as retinal degeneration along with renal insufficiency,…”
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Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis by M'hamdi, O., Redin, C., Stoetzel, C., Ouertani, I., Chaabouni, M., Maazoul, F., M'rad, R., Mandel, J.L., Dollfus, H., Muller, J., Chaabouni, H.

“…Bardet–Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive…”
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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease by Muller, Jean, Stoetzel, C, Vincent, M. C, Leitch, C. C, Laurier, V, Danse, J. M, Hellé, S, Marion, V, Bennouna-Greene, V, Vicaire, S, Megarbane, A, Kaplan, J, Drouin-Garraud, V, Hamdani, M, Sigaudy, S, Francannet, C, Roume, J, Bitoun, P, Goldenberg, A, Philip, N, Odent, S, Green, J, Cossée, M, Davis, E. E, Katsanis, N, Bonneau, D, Verloes, A, Poch, O, Mandel, J. L, Dollfus, H

“…Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and…”
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Osteosclerotic bone dysplasia in siblings with a Fam20C mutation by Fradin, M, Stoetzel, C, Muller, J, Koob, M, Christmann, D, Debry, C, Kohler, M, Isnard, M, Astruc, D, Desprez, P, Zorres, C, Flori, E, Dollfus, H, Doray, B

“…Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. Osteosclerotic…”
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Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations by Schaefer, E., Lauer, J., Durand, M., Pelletier, V., Obringer, C., Claussmann, A., Braun, J.-J., Redin, C., Mathis, C., Muller, J., Schmidt-Mutter, C., Flori, E., Marion, V., Stoetzel, C., Dollfus, H.

“…Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial…”
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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly by Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., Redin, C., Bennouna Greene, V., Toutain, A., Perrin, L., Gérard, M., Caillard, S., Bei, X., Lewis, R.A., Christmann, D., Letsch, J., Kribs, M., Mutter, C., Muller, J., Stoetzel, C., Fischbach, M., Marion, V., Katsanis, N., Dollfus, H.

“…The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl…”
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Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia by Bennouna-Greene, V, Kremer, S, Stoetzel, C, Christmann, D, Schuster, C, Durand, M, Verloes, A, Sigaudy, S, Holder-Espinasse, M, Godet, J, Brandt, C, Marion, V, Danion, A, Dietemann, J-L, Dollfus, H

“…Bennouna‐Greene V, Kremer S, Stoetzel C, Christmann D, Schuster C, Durand M, Verloes A, Sigaudy S, Holder‐Espinasse M, Godet J, Brandt C, Marion V, Danion A,…”
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Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder by Fradin, M, Merklen-Djafri, C, Perrigouard, C, Aral, B, Muller, J, Stoetzel, C, Frouin, E, Flori, E, Doray, B, Dollfus, H, Lipsker, D

“…The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular…”
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Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing by Aliferis, K., Hellé, S., Gyapay, G., Duchatelet, S., Stoetzel, C., Mandel, J.-L., Dollfus, H.

“…Introduction: Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. Clinical…”
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Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies by Stoetzel, C., Riehm, S., Bennouna Greene, V., Pelletier, V., Vigneron, J., Leheup, B., Marion, V., Hellé, S., Danse, J.M., Thibault, C., Moulinier, L., Veillon, F., Dollfus, H.

“…Branchio‐oculo‐facial syndrome (BOFS) is an autosomal‐dominant condition characterized by three main features, respectively: branchial defects, ocular…”
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Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral Ectopia Lentis by Greene, V. Bennouna, Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J.L., Dollfus, H.

“…Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers leads progressively to lens dislocation. It is most often associated with…”
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Influence of nanoparticle reinforcement on the adhesion to dentin by Wagner, A, Stoetzel, C, Mueller, F, Neuhuber, W, Petschelt, A, Lohbauer, U

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Influence of HAp-nanoparticle reinforcement on the adhesion to dentin by Wagner, A, Belli, R, Stoetzel, C, Mueller, F.A, Hilpert, A, Petschelt, A, Lohbauer, U

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Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos by Thisse, B., Stoetzel, C., Gorostiza‐Thisse, C., Perrin‐Schmitt, F.

“…The twist gene is involved in the establishment of germ layers in Drosophila embryos: twist homozygous mutant embryos fail to form the ventral furrow at…”
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Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle by Dollfus, H, Stoetzel, C, Riehm, S, Lahlou Boukoffa, W, Bediard Boulaneb, F, Quillet, R, Abu-Eid, M, Speeg-Schatz, C, Francfort, JJ, Flament, J, Veillon, F, Perrin-Schmitt, F

“…The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome…”
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Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22 by Dollfus, Helene, Kumaramanickavel, Govindasamy, Biswas, Partha, Stoetzel, Corinne, Quillet, Renaud, Denton, Michael, Maw, Marion, Perrin-Schmitt, Fabienne

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The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart by Bourgeois, P, Stoetzel, C, Bolcato-Bellemin, A L, Mattei, M G, Perrin-Schmitt, F

“…The identification of a number of human genes has been established through cross homology with sequences characterized in other species such as flies, frogs,…”
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Ion adsorption behaviour of hydroxyapatite with different crystallinities by Stötzel, C., Müller, F.A., Reinert, F., Niederdraenk, F., Barralet, J.E., Gbureck, U.

“…This study aimed to correlate crystallinity of hydroxyapatite (HA) with the ion adsorption behaviour of the material. Hydroxyapatite powders of various…”
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Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome by Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cécile, Plewniak, Frédéric, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J.L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, Dollfus, Hélène

“…Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progressive retinal degeneration, obesity, cognitive impairment,…”
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The locations of the H-twist and H-dermo-1 genes are distinct on the human genome by Perrin-Schmitt, F., Bolcato-Bellemin, A.L., Bourgeois, P., Stoetzel, C., Danse, J.M.

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