Young,
Woods,
Parfrey,
Green,
Hefferton,
Davidson,
Héon,
Westall,
Carmi,
Elbedour,
Panton,
Mackeen,
Stone,
Sheffield,
Sheffield,
Iannaccone,
Mykytyn,
Persico,
Searby,
Baldi,
Jablonski,
Sheffield,
Woods,
Young,
Parfrey,
Hefferton,
Green,
Davidson,
Slavotinek,
Biesecker,
Grace,
Beales,
Summerbell,
Jebb,
Wright,
Parker,
Kopelman,
Beales,
Reid,
Griffiths,
Maher,
Flinter,
Woolf,
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- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Mykytyn, K., Nishimura, D.Y., Searby, C.C., Shastri, M., Yen, H.J., Beck, J.S., Braun, T., Streb, L.M., Cornier, A.S., Cox, G.F., Fulton, A.B., Carmi, R., Lüleci, G., Chandrasekharappa, S.C., Collins, F.S., Jacobson, S.G., Heckenlively, J.R., Weleber, R.G., Stone, E.M., Sheffield, V.C. Nat. Genet. (2002)
- Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Karmous-Benailly, H., Martinovic, J., Gubler, M.C., Sirot, Y., Clech, L., Ozilou, C., Auge, J., Brahimi, N., Etchevers, H., Detrait, E., Esculpavit, C., Audollent, S., Goudefroye, G., Gonzales, M., Tantau, J., Loget, P., Joubert, M., Gaillard, D., Jeanne-Pasquier, C., Delezoide, A.L., Peter, M.O., Plessis, G., Simon-Bouy, B., Dollfus, H., Le Merrer, M., Munnich, A., Encha-Razavi, F., Vekemans, M., Attié-Bitach, T. Am. J. Hum. Genet. (2005)
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- Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Mykytyn, K., Mullins, R.F., Andrews, M., Chiang, A.P., Swiderski, R.E., Yang, B., Braun, T., Casavant, T., Stone, E.M., Sheffield, V.C. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Energy metabolism in Bardet-Biedl syndrome. Grace, C., Beales, P., Summerbell, C., Jebb, S.A., Wright, A., Parker, D., Kopelman, P. Int. J. Obes. Relat. Metab. Disord. (2003)
- Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Iannaccone, A., Mykytyn, K., Persico, A.M., Searby, C.C., Baldi, A., Jablonski, M.M., Sheffield, V.C. Am. J. Med. Genet. A (2005)
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- The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Kim, J.C., Badano, J.L., Sibold, S., Esmail, M.A., Hill, J., Hoskins, B.E., Leitch, C.C., Venner, K., Ansley, S.J., Ross, A.J., Leroux, M.R., Katsanis, N., Beales, P.L. Nat. Genet. (2004)
- Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Kulaga, H.M., Leitch, C.C., Eichers, E.R., Badano, J.L., Lesemann, A., Hoskins, B.E., Lupski, J.R., Beales, P.L., Reed, R.R., Katsanis, N. Nat. Genet. (2004)
- Efficacy, safety and cycle control of five oral contraceptive regimens containing norgestimate and ethinyl estradiol. LaGuardia, K.D., Shangold, G., Fisher, A., Friedman, A., Kafrissen, M. Contraception. (2003)
- Artificial baroreflex: clinical application of a bionic baroreflex system. Yamasaki, F., Ushida, T., Yokoyama, T., Ando, M., Yamashita, K., Sato, T. Circulation (2006)
- Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Badano, J.L., Ansley, S.J., Leitch, C.C., Lewis, R.A., Lupski, J.R., Katsanis, N. Am. J. Hum. Genet. (2003)
- Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Héon, E., Westall, C., Carmi, R., Elbedour, K., Panton, C., Mackeen, L., Stone, E.M., Sheffield, V.C. Am. J. Med. Genet. A (2005)
- A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. Young, T.L., Woods, M.O., Parfrey, P.S., Green, J.S., Hefferton, D., Davidson, W.S. Am. J. Hum. Genet. (1999)
- Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Beales, P.L., Badano, J.L., Ross, A.J., Ansley, S.J., Hoskins, B.E., Kirsten, B., Mein, C.A., Froguel, P., Scambler, P.J., Lewis, R.A., Lupski, J.R., Katsanis, N. Am. J. Hum. Genet. (2003)
- Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Sheffield, V.C. Pediatr. Res. (2004)
- Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Slavotinek, A.M., Biesecker, L.G. Am. J. Med. Genet. (2000)
- Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Yen, H.J., Tayeh, M.K., Mullins, R.F., Stone, E.M., Sheffield, V.C., Slusarski, D.C. Hum. Mol. Genet. (2006)
- MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. Kim, J.C., Ou, Y.Y., Badano, J.L., Esmail, M.A., Leitch, C.C., Fiedrich, E., Beales, P.L., Archibald, J.M., Katsanis, N., Rattner, J.B., Leroux, M.R. J. Cell. Sci. (2005)
- The inhibition of inducible nitric oxide synthase in ovine sepsis model. Enkhbaatar, P., Murakami, K., Traber, L.D., Cox, R., Parkinson, J.F., Westphal, M., Esechie, A., Morita, N., Maybauer, M.O., Maybauer, D.M., Burke, A.S., Schmalstieg, F.C., Hawkins, H.K., Herndon, D.N., Traber, D.L. Shock (2006)
- Intracellular pH regulation of human colonic crypt cells. Teleky, B., Hamilton, G., Cosentini, E., Bischof, G., Riegler, M., Koperna, T., Feil, W., Schiessel, R., Wenzl, E. Pflugers Arch. (1994)
- Safety evaluation of BSS plus in pediatric intraocular surgery. Burke, M.J., Parks, M.M., Calhoun, J.H., Diamond, J.G., deFaller, J.M. Journal of pediatric ophthalmology and strabismus. (1981)
- Dichroic properties of bis(benzoxazolyl)stilbene and bis(benzoxazolyl)thiophene dispersed into oriented polyethylene films: a combined experimental and density functional theory approach. Pucci, A., Cappelli, C., Bronco, S., Ruggeri, G. The journal of physical chemistry. B, Condensed matter, materials, surfaces, interfaces & biophysical. (2006)
- Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Badano, J.L., Leitch, C.C., Ansley, S.J., May-Simera, H., Lawson, S., Lewis, R.A., Beales, P.L., Dietz, H.C., Fisher, S., Katsanis, N. Nature (2006)
- Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Woods, M.O., Young, T.L., Parfrey, P.S., Hefferton, D., Green, J.S., Davidson, W.S. Genomics (1999)
- 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., Holder, M., Kaplan, J., Bitoun, P., Lacombe, D., Verloes, A., Bonneau, D., Perrin-Schmitt, F., Brandt, C., Besancon, A.F., Mandel, J.L., Cossée, M., Dollfus, H. Eur. J. Hum. Genet. (2005)
- Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome. Hoang, E.H., Whitehead, J.L., Dosé, A.C., Burnside, B. Genomics (1998)
- A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? Slavotinek, A.M., Dutra, A., Kpodzo, D., Pak, E., Nakane, T., Turner, J., Whiteford, M., Biesecker, L.G., Stratton, P. Am. J. Med. Genet. A (2004)
- Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome. Hamacher, M., Pippirs, U., Köhler, A., Müller, H.W., Bosse, F. Mamm. Genome (2001)
- Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Beales, P.L., Reid, H.A., Griffiths, M.H., Maher, E.R., Flinter, F.A., Woolf, A.S. Nephrol. Dial. Transplant. (2000)
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