1 - 25 of 33 results for author:"Stoetzel C." in Literature citations
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| BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Marion V., Mockel A., De Melo C., Obringer C., Claussmann A., Simon A., Messaddeq N., Durand M., Dupuis L., Loeffler J.P. et al. Cell Metab. 16:363-377(2012) · Mapped (7) |
| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A. et al. |
| Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. Marion V., Stutzmann F., Gerard M., De Melo C., Schaefer E., Claussmann A., Helle S., Delague V., Souied E., Barrey C. et al. J. Med. Genet. 49:317-321(2012) · Mapped (3) |
| Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Bloch-Zupan A., Jamet X., Etard C., Laugel V., Muller J., Geoffroy V., Strauss J.P., Pelletier V., Marion V., Poch O. et al. Am. J. Hum. Genet. 89:773-781(2011) · UniProtKB (2) · Mapped (3) |
| A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. Aliferis K., Stoetzel C., Pelletier V., Helle S., Angioi-Duprez K., Vigneron J., Leheup B., Marion V., Dollfus H. Ophthalmic Genet. 32:250-255(2011) · Mapped (5) |
| TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Davis E.E., Zhang Q., Liu Q., Diplas B.H., Davey L.M., Hartley J., Stoetzel C., Szymanska K., Ramaswami G., Logan C.V. et al. |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Otto E.A., Hurd T.W., Airik R., Chaki M., Zhou W., Stoetzel C., Patil S.B., Levy S., Ghosh A.K., Murga-Zamalloa C.A. et al. |
| Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Fradin M., Stoetzel C., Muller J., Koob M., Christmann D., Debry C., Kohler M., Isnard M., Astruc D., Desprez P. et al. Clin. Genet. 80:177-183(2011) · Mapped (1) |
| Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. Greene V.B., Stoetzel C., Pelletier V., Perdomo-Trujillo Y., Liebermann L., Marion V., De Korvin H., Boileau C., Dufier J.L., Dollfus H. Ophthalmic Genet. 31:47-51(2010) · Mapped (8) |
| Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E., Danse J.M., Mandel J.-L., Dollfus H. Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009) · UniProtKB (2) · Mapped (1) |
| Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Leitch C.C., Zaghloul N.A., Davis E.E., Stoetzel C., Diaz-Font A., Rix S., Alfadhel M., Lewis R.A., Eyaid W., Banin E. et al. |
| Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Stoetzel C., Muller J., Laurier V., Davis E.E., Zaghloul N.A., Vicaire S., Jacquelin C., Plewniak F., Leitch C.C., Sarda P. et al. Am. J. Hum. Genet. 80:1-11(2007) · UniProtKB (1) · Mapped (8) |
| Bardet-Biedl syndrome: a unique family for a major gene (BBS10). Dollfus H., Muller J., Stoetzel C., Laurier V., Bonneau D., Megarbane A., Poch O., Mandel J.L. Med Sci (Paris) 22:901-904(2006) · Mapped (2) |
| BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Stoetzel C., Laurier V., Davis E.E., Muller J., Rix S., Badano J.L., Leitch C.C., Salem N., Chouery E., Corbani S. et al. |
| Differential regulation of TIMP-1, -2, and -3 mRNA and protein expressions during mouse incisor development. Yoshiba N., Yoshiba K., Stoetzel C., Perrin-Schmitt F., Cam Y., Ruch J.V., Hosoya A., Ozawa H., Lesot H. Cell Tissue Res. 324:97-104(2006) · Mapped (14) |
| BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. Stoetzel C., Laurier V., Faivre L., Megarbane A., Perrin-Schmitt F., Verloes A., Bonneau D., Mandel J.-L., Cossee M., Dollfus H. J. Hum. Genet. 51:81-84(2006) · UniProtKB (1) |
| Frequent genomic abnormalities at TWIST in human pediatric osteosarcomas. Entz-Werle N., Stoetzel C., Berard-Marec P., Kalifa C., Brugiere L., Pacquement H., Schmitt C., Tabone M.D., Gentet J.C., Quillet R. et al. Int. J. Cancer 117:349-355(2005) · Mapped (1) |
| Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Hichri H., Stoetzel C., Laurier V., Caron S., Sigaudy S., Sarda P., Hamel C., Martin-Coignard D., Gilles M., Leheup B. et al. Eur. J. Hum. Genet. 13:607-616(2005) · UniProtKB (5) |
| Temporospatial gene expression and protein localization of matrix metalloproteinases and their inhibitors during mouse molar tooth development. Yoshiba N., Yoshiba K., Stoetzel C., Perrin-Schmitt F., Cam Y., Ruch J.V., Lesot H. Dev. Dyn. 228:105-112(2003) · Mapped (25) |
| Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Dollfus H., Stoetzel C., Riehm S., Lahlou Boukoffa W., Bediard Boulaneb F., Quillet R., Abu-Eid M., Speeg-Schatz C., Francfort J.J., Flament J. et al. Clin. Genet. 63:117-120(2003) · UniProtKB (1) |
| Natural Twist protein variants in a panel of eleven non-human primates: possible implications of Twist gene-tree for primate species tree. Gachot-Neveu H., Stoetzel C., Quillet R., Dollfus H., Perrin-Schmitt F. Dev. Genes Evol. 212:496-503(2002) · UniProtKB (11) · Mapped (1) |
| Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. Dollfus H., Kumaramanickavel G., Biswas P., Stoetzel C., Quillet R., Denton M., Maw M., Perrin-Schmitt F. J. Med. Genet. 38:470-472(2001) · Mapped (7) |
| Differential expression of laminin-5 subunits during incisor and molar development in the mouse. Yoshiba K., Yoshiba N., Aberdam D., Meneguzzi G., Perrin-Schmitt F., Stoetzel C., Ruch J.V., Lesot H. Int. J. Dev. Biol. 44:337-340(2000) · Mapped (11) |
| The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Bourgeois P., Bolcato-Bellemin A.L., Danse J.M., Bloch-Zupan A., Yoshiba K., Stoetzel C., Perrin-Schmitt F. Hum. Mol. Genet. 7:945-957(1998) · Mapped (1) |
| Expression and localization of laminin-5 subunits in the mouse incisor. Yoshiba N., Yoshiba K., Aberdam D., Meneguzzi G., Perrin-Schmitt F., Stoetzel C., Ruch J.V., Lesot H. Cell Tissue Res. 292:143-149(1998) · Mapped (33) |