-
1
-
-
1442274810
-
Establishing a connection between cilia and Bardet-Biedl Syndrome
-
Mykytyn K, Sheffield VC: Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med 2004; 10: 106-109.
-
(2004)
Trends Mol Med
, vol.10
, pp. 106-109
-
-
Mykytyn, K.1
Sheffield, V.C.2
-
2
-
-
0036699538
-
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
-
Mykytyn K, Nishimura DY, Searby CC et al: Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet 2002; 31: 435-438.
-
(2002)
Nat Genet
, vol.31
, pp. 435-438
-
-
Mykytyn, K.1
Nishimura, D.Y.2
Searby, C.C.3
-
3
-
-
0035311942
-
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
-
Nishimura DY, Searby CC, Carmi R et al: Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001; 10: 865-874.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 865-874
-
-
Nishimura, D.Y.1
Searby, C.C.2
Carmi, R.3
-
4
-
-
0031855921
-
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype
-
Young T-L, Woods MO, Parfrey PS et al: Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am J Med Genet 1998; 78: 461-467.
-
(1998)
Am J Med Genet
, vol.78
, pp. 461-467
-
-
Young, T.-L.1
Woods, M.O.2
Parfrey, P.S.3
-
5
-
-
0034967274
-
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
-
Mykytyn K, Braun T, Carmi R et al: Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 2001; 28: 188-191.
-
(2001)
Nat Genet
, vol.28
, pp. 188-191
-
-
Mykytyn, K.1
Braun, T.2
Carmi, R.3
-
6
-
-
0033358082
-
A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31
-
Young T-L, Penney L, Woods MO et al: A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. Am J Hum Genet 1999; 64: 900-904.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 900-904
-
-
Young, T.-L.1
Penney, L.2
Woods, M.O.3
-
7
-
-
0033812186
-
Mutations in MKKS cause Bardet-Biedl syndrome
-
Slavotinek AM, Stone EM, Mykytyn K et al: Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 2000; 26: 15-16.
-
(2000)
Nat Genet
, vol.26
, pp. 15-16
-
-
Slavotinek, A.M.1
Stone, E.M.2
Mykytyn, K.3
-
8
-
-
0033822064
-
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
-
Katsanis N, Beales PL, Woods MO et al: Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 2000; 26: 67-70.
-
(2000)
Nat Genet
, vol.26
, pp. 67-70
-
-
Katsanis, N.1
Beales, P.L.2
Woods, M.O.3
-
9
-
-
0037371508
-
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
-
Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N: Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 2003; 72: 650-658.
-
(2003)
Am J Hum Genet
, 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
-
10
-
-
0142104970
-
Basel body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley SJ, Badano JL, Blacque OE et al: Basel body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003; 425: 628-633.
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
-
11
-
-
1842579395
-
The oligogenic properties of Bardet-Biedl syndrome
-
Katsanis N: The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet 2004; 13: R65-R71.
-
(2004)
Hum Mol Genet
, vol.13
-
-
Katsanis, N.1
-
12
-
-
0035425580
-
Cohen syndrome: Essential features, natural history, and heterogeneity
-
Kivitie-KaElio S, Norio R: Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet 2001; 102: 125-135.
-
(2001)
Am J Med Genet
, vol.102
, pp. 125-135
-
-
Kivitie-Kallio, S.1
Norio, R.2
-
13
-
-
0030722254
-
Refined mapping of the Cohen syndrome gene by linkage disequilibrium
-
Kolehmainen J, Norio R, Kivitie-Kallio S, Tahvanainen E, de la Chapelle A, Lehesjoki AE: Refined mapping of the Cohen syndrome gene by linkage disequilibrium. Eur J Hum Genet 1997; 5: 206-213.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 206-213
-
-
Kolehmainen, J.1
Norio, R.2
Kivitie-Kallio, S.3
Tahvanainen, E.4
de la Chapelle, A.5
Lehesjoki, A.E.6
-
14
-
-
0028240980
-
Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping
-
Reed PW, Davies JL, Copeman JB et al: Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping. Nat Genet 1994; 7: 390-395.
-
(1994)
Nat Genet
, vol.7
, pp. 390-395
-
-
Reed, P.W.1
Davies, J.L.2
Copeman, J.B.3
-
15
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Misener S, Krawetz SA (eds): Totowa, NJ: Humana Press
-
Rozen S, Skaletsky HJ: Primer3 on the WWW for general users and for biologist programmers; in Misener S, Krawetz SA (eds): Bioinformatics Methods and Protocols: Methods in Molecular Biology. Totowa, NJ: Humana Press, 2000, pp 365-386.
-
(2000)
Bioinformatics Methods and Protocols: Methods in Molecular Biology
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.J.2
-
16
-
-
0032964297
-
BLAST 2 sequences, a new tool for comparing protein and nucleotide sequences
-
Tatusova TA, Madden TL: BLAST 2 sequences, a new tool for comparing protein and nucleotide sequences. FEMS Microbiol Lett 1999; 174: 247-250.
-
(1999)
FEMS Microbiol Lett
, vol.174
, pp. 247-250
-
-
Tatusova, T.A.1
Madden, T.L.2
-
17
-
-
0004235298
-
-
American Psychiatric Association: Washington, DC: American Psychiatric Association
-
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders (DSM IV). Washington, DC: American Psychiatric Association, 1994.
-
(1994)
Diagnostic and Statistical Manual of Mental Disorders (DSM IV)
-
-
-
18
-
-
0032231941
-
PedCheck: A program for identification of genotype incompatibilities in linkage analysis
-
O'CoAnell JR, Weeks DE: PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 63: 259-266.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 259-266
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
19
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
20
-
-
0033062278
-
New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
-
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA: New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 1999; 36: 437-446.
-
(1999)
J Med Genet
, vol.36
, pp. 437-446
-
-
Beales, P.L.1
Elcioglu, N.2
Woolf, A.S.3
Parker, D.4
Flinter, F.A.5
-
21
-
-
0032963190
-
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus
-
Woods MO, Young T-L, Parfrey PS, Hefferton D, Green JS, Davidson WS: Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus. Genomics 1999; 55: 2-9.
-
(1999)
Genomics
, vol.55
, pp. 2-9
-
-
Woods, M.O.1
Young, T.-L.2
Parfrey, P.S.3
Hefferton, D.4
Green, J.S.5
Davidson, W.S.6
-
22
-
-
22144436963
-
G protein betagamma subunits and AGS3 control spindle orientation and asymmetric cell fate of cerebral cortical progenitors
-
Sanada K, Tsai L-H: G protein betagamma subunits and AGS3 control spindle orientation and asymmetric cell fate of cerebral cortical progenitors. Cell 2005; 122: 119-131.
-
(2005)
Cell
, vol.122
, pp. 119-131
-
-
Sanada, K.1
Tsai, L.-H.2
|