-
1
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., and Leitch C.C. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425 (2003) 628-633
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
Hill, J.4
Hoskins, B.E.5
Leitch, C.C.6
-
2
-
-
0037371508
-
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., and Katsanis N. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. American Journal of Human Genetics 72 (2003) 650-658
-
(2003)
American Journal of Human Genetics
, vol.72
, pp. 650-658
-
-
Badano, J.L.1
Ansley, S.J.2
Leitch, C.C.3
Lewis, R.A.4
Lupski, J.R.5
Katsanis, N.6
-
3
-
-
19444377129
-
Lifting the lid on Pandora's box: The Bardet-Biedl syndrome
-
Beales P.L. Lifting the lid on Pandora's box: The Bardet-Biedl syndrome. Current Opinion in Genetics and Development 15 (2005) 315-323
-
(2005)
Current Opinion in Genetics and Development
, vol.15
, pp. 315-323
-
-
Beales, P.L.1
-
4
-
-
0033062278
-
New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
-
Beales P.L., Elcioglu N., Woolf A.S., Parker D., and Flinter F.A. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. Journal of Medical Genetics 36 (1999) 437-446
-
(1999)
Journal of Medical Genetics
, vol.36
, pp. 437-446
-
-
Beales, P.L.1
Elcioglu, N.2
Woolf, A.S.3
Parker, D.4
Flinter, F.A.5
-
5
-
-
33748994054
-
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians
-
Benzinou M., Walley A., Lobbens S., Charles M.A., Jouret B., Fumeron F., et al. Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. Diabetes 55 10 (2006) 2876-2882
-
(2006)
Diabetes
, vol.55
, Issue.10
, pp. 2876-2882
-
-
Benzinou, M.1
Walley, A.2
Lobbens, S.3
Charles, M.A.4
Jouret, B.5
Fumeron, F.6
-
6
-
-
0028841278
-
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci
-
Carmi R., Elbedour K., Stone E.M., and Sheffield V.C. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. American Journal of Medical Genetics 59 (1995) 199-203
-
(1995)
American Journal of Medical Genetics
, vol.59
, pp. 199-203
-
-
Carmi, R.1
Elbedour, K.2
Stone, E.M.3
Sheffield, V.C.4
-
7
-
-
33646562887
-
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase as a Bardet-Biedl syndrome gene (BBS11)
-
Chiang A.P., Beck J.S., Yen H.J., Tayeh M.K., Scheetz T.E., Swiderski R.E., et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase as a Bardet-Biedl syndrome gene (BBS11). Proceedings of the National Academy of Sciences USA 103 (2006) 6287-6292
-
(2006)
Proceedings of the National Academy of Sciences USA
, vol.103
, pp. 6287-6292
-
-
Chiang, A.P.1
Beck, J.S.2
Yen, H.J.3
Tayeh, M.K.4
Scheetz, T.E.5
Swiderski, R.E.6
-
8
-
-
4143115620
-
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)
-
Chiang A.P., Nishimura D., Searby C., Elbedour K., Carmi R., Ferguson A.L., et al. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). American Journal of Human Genetics 75 (2004) 475-484
-
(2004)
American Journal of Human Genetics
, vol.75
, pp. 475-484
-
-
Chiang, A.P.1
Nishimura, D.2
Searby, C.3
Elbedour, K.4
Carmi, R.5
Ferguson, A.L.6
-
9
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P., and Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analytical Biochemistry 162 (1987) 156-159
-
(1987)
Analytical Biochemistry
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
12
-
-
4444291840
-
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
-
Fan Y., Esmail M.A., Ansley S.J., Blacque O.E., Boroevich K., Ross A.J., et al. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nature Genetics 36 (2004) 989-993
-
(2004)
Nature Genetics
, vol.36
, pp. 989-993
-
-
Fan, Y.1
Esmail, M.A.2
Ansley, S.J.3
Blacque, O.E.4
Boroevich, K.5
Ross, A.J.6
-
13
-
-
20944445215
-
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
-
Fath M.A., Mullins R.F., Searby C., Nishimura D.Y., Wei J., Rahmouni K., et al. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Human Molecular Genetics 14 (2005) 1109-1118
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 1109-1118
-
-
Fath, M.A.1
Mullins, R.F.2
Searby, C.3
Nishimura, D.Y.4
Wei, J.5
Rahmouni, K.6
-
14
-
-
0242408534
-
Energy metabolism in Bardet-Biedl syndrome
-
Grace C., Beales P., Summerbell C., Jebb S.A., Wright A., Parker D., et al. Energy metabolism in Bardet-Biedl syndrome. International Journal of Obesity and Related Metabolic Disorders 27 (2003) 1319-1324
-
(2003)
International Journal of Obesity and Related Metabolic Disorders
, vol.27
, pp. 1319-1324
-
-
Grace, C.1
Beales, P.2
Summerbell, C.3
Jebb, S.A.4
Wright, A.5
Parker, D.6
-
15
-
-
0017239088
-
Spontaneous heritable changes leading to increased adipose conversion in 3T3 cells
-
Green H., and Kehinde O. Spontaneous heritable changes leading to increased adipose conversion in 3T3 cells. Cell 7 (1976) 105-113
-
(1976)
Cell
, vol.7
, pp. 105-113
-
-
Green, H.1
Kehinde, O.2
-
16
-
-
0018575815
-
Formation of normally differentiated subcutaneous fat pads by an established preadipose cell line
-
Green H., and Kehinde O. Formation of normally differentiated subcutaneous fat pads by an established preadipose cell line. Journal of Cell Physiology 101 (1979) 169-171
-
(1979)
Journal of Cell Physiology
, vol.101
, pp. 169-171
-
-
Green, H.1
Kehinde, O.2
-
17
-
-
0016178461
-
An established pre-adipose cell line and its differentiation in culture
-
Green H., and Meuth M. An established pre-adipose cell line and its differentiation in culture. Cell 3 (1974) 127-133
-
(1974)
Cell
, vol.3
, pp. 127-133
-
-
Green, H.1
Meuth, M.2
-
19
-
-
0032818978
-
ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterization by rapid nucleotide exchange and a nuclear localization signal
-
Jacobs S., Schilf C., Fliegert F., Koling S., Weber Y., Schurmann A., et al. ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterization by rapid nucleotide exchange and a nuclear localization signal. FEBS Letters 456 (1999) 384-388
-
(1999)
FEBS Letters
, vol.456
, pp. 384-388
-
-
Jacobs, S.1
Schilf, C.2
Fliegert, F.3
Koling, S.4
Weber, Y.5
Schurmann, A.6
-
20
-
-
0033822064
-
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
-
Katsanis N., Beales P.L., Woods M.O., Lewis R.A., Green J.S., Parfrey P.S., et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genetics 26 (2000) 67-70
-
(2000)
Nature Genetics
, vol.26
, pp. 67-70
-
-
Katsanis, N.1
Beales, P.L.2
Woods, M.O.3
Lewis, R.A.4
Green, J.S.5
Parfrey, P.S.6
-
22
-
-
2342501364
-
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
-
Li J.B., Gerdes J.M., Haycraft C.J., Fan Y., Teslovich T.M., May-Simera H., et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell 117 (2004) 541-552
-
(2004)
Cell
, vol.117
, pp. 541-552
-
-
Li, J.B.1
Gerdes, J.M.2
Haycraft, C.J.3
Fan, Y.4
Teslovich, T.M.5
May-Simera, H.6
-
23
-
-
0030982940
-
Obese gene expression at in vivo levels by fat pads derived from s.c. implanted 3T3-F442A preadipocytes
-
Mandrup S., Loftus T.M., MacDougald O.A., Kuhajda F.P., and Lane M.D. Obese gene expression at in vivo levels by fat pads derived from s.c. implanted 3T3-F442A preadipocytes. Proceedings of National Academy of Science USA 94 (1997) 4300-4305
-
(1997)
Proceedings of National Academy of Science USA
, vol.94
, pp. 4300-4305
-
-
Mandrup, S.1
Loftus, T.M.2
MacDougald, O.A.3
Kuhajda, F.P.4
Lane, M.D.5
-
24
-
-
0034967274
-
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
-
Mykytyn K., Braun T., Carmi R., Haider N.B., Searby C.C., Shastri M., et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genetics 28 (2001) 188-191
-
(2001)
Nature Genetics
, vol.28
, pp. 188-191
-
-
Mykytyn, K.1
Braun, T.2
Carmi, R.3
Haider, N.B.4
Searby, C.C.5
Shastri, M.6
-
25
-
-
2942625562
-
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., et al. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proceedings of National Academy of Sciences 101 (2004) 8664-8669
-
(2004)
Proceedings of National Academy of Sciences
, vol.101
, pp. 8664-8669
-
-
Mykytyn, K.1
Mullins, R.F.2
Andrews, M.3
Chiang, A.P.4
Swiderski, R.E.5
Yang, B.6
-
26
-
-
0036699538
-
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., et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics 31 (2002) 435-438
-
(2002)
Nature Genetics
, vol.31
, pp. 435-438
-
-
Mykytyn, K.1
Nishimura, D.Y.2
Searby, C.C.3
Shastri, M.4
Yen, H.J.5
Beck, J.S.6
-
27
-
-
9344261783
-
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
-
Nishimura D.Y., Fath M., Mullins R.F., Searby C., Andrews M., Davis R., et al. Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proceedings of National Academy of Science USA 101 (2004) 16588-16593
-
(2004)
Proceedings of National Academy of Science USA
, vol.101
, pp. 16588-16593
-
-
Nishimura, D.Y.1
Fath, M.2
Mullins, R.F.3
Searby, C.4
Andrews, M.5
Davis, R.6
-
28
-
-
0035311942
-
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
-
Nishimura D.Y., Searby C.C., Carmi R., Elbedour K., Van Maldergem L., Fulton A.B., et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Human Molecular Genetics 10 (2001) 865-874
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 865-874
-
-
Nishimura, D.Y.1
Searby, C.C.2
Carmi, R.3
Elbedour, K.4
Van Maldergem, L.5
Fulton, A.B.6
-
29
-
-
28144460266
-
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
-
Nishimura D.Y., Swiderski R.E., Searby C.C., Berg E.M., Ferguson A.L., Hennekam R., et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. American Journal of Human Genetics 77 (2005) 1021-1033
-
(2005)
American Journal of Human Genetics
, vol.77
, pp. 1021-1033
-
-
Nishimura, D.Y.1
Swiderski, R.E.2
Searby, C.C.3
Berg, E.M.4
Ferguson, A.L.5
Hennekam, R.6
-
30
-
-
0034535853
-
Adipocyte differentiation and gene expression
-
Ntambi J.M., and Young-Cheul K. Adipocyte differentiation and gene expression. Journal of Nutrition 130 (2000) S3122-S3126
-
(2000)
Journal of Nutrition
, vol.130
-
-
Ntambi, J.M.1
Young-Cheul, K.2
-
34
-
-
0033812186
-
Mutations in MKKS cause Bardet-Biedl syndrome
-
Slavotinek A.M., Stone E.M., Mykytyn K., Heckenlively J.R., Green J.S., Heon E., et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nature Genetics 26 (2000) 15-16
-
(2000)
Nature Genetics
, vol.26
, pp. 15-16
-
-
Slavotinek, A.M.1
Stone, E.M.2
Mykytyn, K.3
Heckenlively, J.R.4
Green, J.S.5
Heon, E.6
-
35
-
-
33646354641
-
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., et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature Genetics 38 (2006) 521-524
-
(2006)
Nature Genetics
, vol.38
, pp. 521-524
-
-
Stoetzel, C.1
Laurier, V.2
Davis, E.E.3
Muller, J.4
Rix, S.5
Badano, J.L.6
-
36
-
-
33845995129
-
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., 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. American Journal of Human Genetics 80 1 (2007) 1-11
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.1
, pp. 1-11
-
-
Stoetzel, C.1
Muller, J.2
Laurier, V.3
Davis, E.E.4
Zaghloul, N.A.5
Vicaire, S.6
-
37
-
-
0034019637
-
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
-
Stone D.L., Slavotinek A., Bouffard G.G., Banerjee-Basu S., Baxevanis A.D., Barr M., et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nature Genetics 25 (2000) 79-82
-
(2000)
Nature Genetics
, vol.25
, pp. 79-82
-
-
Stone, D.L.1
Slavotinek, A.2
Bouffard, G.G.3
Banerjee-Basu, S.4
Baxevanis, A.D.5
Barr, M.6
|