-
1
-
-
0003571561
-
Chronic renal failure
-
16th ed., New York: Mc Graw-Hill, Medical publishing division
-
Chronic renal failure. In: Kasper DL, Braunwald E, Fauci AS, editors. Textbook of Harrison's principles of internal medicine, 16th ed., vol. II. New York: Mc Graw-Hill, Medical publishing division; 2005. p. 1653-63.
-
(2005)
Textbook of Harrison's Principles of Internal Medicine
, vol.2
, pp. 1653-1663
-
-
Kasper, D.L.1
Braunwald, E.2
Fauci, A.S.3
-
2
-
-
84897963367
-
-
South Asia 23rd ed., Elsevier
-
Arerend, Armitage, Clemmons, Drazen, Griggs, La Russ. Text-Book of Goldman Ausielo cecil medicine, South Asia 23rd ed., vol. 1. Elsevier, p. 903-10.
-
Text-Book of Goldman Ausielo Cecil Medicine
, vol.1
, pp. 903-910
-
-
Arerend1
Armitage2
Clemmons3
Drazen4
Griggs5
La Russ6
-
3
-
-
0028128537
-
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
-
DOI 10.1038/ng0594-108
-
Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA. Bardet-Biedl syndromes is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat. Genet. 1994;7:108-12. (Pubitemid 24232390)
-
(1994)
Nature Genetics
, vol.7
, Issue.1
, pp. 108-112
-
-
Leppert, M.1
Baird, L.2
Anderson, K.L.3
Otterud, B.4
Lupski, J.R.5
Lewis, R.A.6
-
4
-
-
0024472754
-
The cardinal manifestation of bardet-biedl syndrome, A form of Laurence-moon-biedl syndrome
-
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, et al. The cardinal manifestations of BBS, a form of Laurence-Moon-Biedl syndrome. NEJM. 1989;321:1002-9. (Pubitemid 19253414)
-
(1989)
New England Journal of Medicine
, vol.321
, Issue.15
, pp. 1002-1009
-
-
Green, J.S.1
Parfrey, P.S.2
Harnett, J.D.3
Farid, N.R.4
Cramer, B.C.5
Johnson, G.6
Heath, O.7
McManamon, P.J.8
O'Leary, E.9
Pryse-Phillips, W.10
-
5
-
-
77953434944
-
Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease
-
Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T. Renal transplant in a child with Bardet-Biedl syndrome : a rare cause of end-stage renal disease. Indian J Nephrol. 2009;19(3):112-4.
-
(2009)
Indian J Nephrol
, vol.19
, Issue.3
, pp. 112-114
-
-
Hooda, A.K.1
Karan, S.C.2
Bishnoi, J.S.3
Nandwani, A.4
Sinha, T.5
-
7
-
-
0029381034
-
Laurence-Moon-Bardet-Biedl syndrome
-
Pal S, Bhattacharyya AR. Laurence-Moon-Bardet-Biedl syndrome. J Indian Med Assoc. 1995;93(10):391-3.
-
(1995)
J Indian Med Assoc
, vol.93
, Issue.10
, pp. 391-393
-
-
Pal, S.1
Bhattacharyya, A.R.2
-
8
-
-
31044433619
-
A rare presentation of Bardet - Biedl syndrome with renal failure, severe osteodystrophy and multiple fractures [1]
-
Gupta S, Goel D, Singhal A. A rare presentation of Bardet-Biedl syndrome with renal failure, severe osteodystrophy and multiple fractures. Indian J Hum Genet. 2005;11:159-60. (Pubitemid 43120861)
-
(2005)
Indian Journal of Human Genetics
, vol.11
, Issue.3
, pp. 159-160
-
-
Gupta, S.1
Goel, D.2
Singhal, A.3
-
9
-
-
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 BBS, results of population survey. J Med Genet. 1999;36:437-46. (Pubitemid 29267741)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.6
, pp. 437-446
-
-
Beales, P.L.1
Elcioglu, N.2
Woolf, A.S.3
Parker, D.4
Flinter, F.A.5
-
10
-
-
9344261783
-
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
-
DOI 10.1073/pnas.0405496101
-
Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, et al. BbS-2 nullmice have neurosensory deficits, a defect in social dominance and retinopathy associated with mislocalization of rhodopsin. PNAS. 2004;101(47):16588-93. (Pubitemid 39557757)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.47
, pp. 16588-16593
-
-
Nishimura, D.Y.1
Fath, M.2
Mullins, R.F.3
Searby, C.4
Andrews, M.5
Davis, R.6
Andorf, J.L.7
Mykytyn, K.8
Swiderski, R.E.9
Yang, B.10
Carmi, R.11
Stone, E.M.12
Sheffield, V.C.13
-
11
-
-
45749118366
-
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning
-
DOI 10.1093/hmg/ddn093
-
Tayeh MK, Yen HJ, Beck JS, Searby CC, Westfall TA, Griesbach H, et al. Genetic Interaction between BBS genes and Implications for limb patterning. Hum Mol Genet. 2008;17:1956-67. (Pubitemid 351865844)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.13
, pp. 1956-1967
-
-
Tayeh, M.K.1
Yen, H.-J.2
Beck, J.S.3
Searby, C.C.4
Westfall, T.A.5
Griesbach, H.6
Sheffield, V.C.7
Slusarski, D.C.8
-
12
-
-
19944431708
-
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
-
DOI 10.1002/ajmg.a.30406
-
Moore SJ, Green JS, Fany, Bhogal AK, Dicks E, et al. Clinical and genetic epidemiology of BBS in Newfoundland a 22-year prospective, population-based cohort study. Am J Med Genet. 2005;132:352-60. (Pubitemid 40175583)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.4
, pp. 352-360
-
-
Moore, S.J.1
Green, J.S.2
Fan, Y.3
Bhogal, A.K.4
Dicks, E.5
Fernandez, B.A.6
Stefanelli, M.7
Murphy, C.8
Cramer, B.C.9
Dean, J.C.S.10
Beales, P.L.11
Katsanis, N.12
Bassett, A.S.13
Davidson, W.S.14
Parfrey, P.S.15
-
13
-
-
34147110360
-
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis
-
DOI 10.1016/j.biocel.2007.02.014, PII S135727250700074X
-
Forti E, Aksanov O, Birk RZ. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. Int J Biochem Cell Biol. 2007;39:1055-62. (Pubitemid 46575335)
-
(2007)
International Journal of Biochemistry and Cell Biology
, vol.39
, Issue.5
, pp. 1055-1062
-
-
Forti, E.1
Aksanov, O.2
Birk, R.Z.3
-
14
-
-
41849134729
-
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome
-
DOI 10.1172/JCI32357
-
Rahamouni K, Fath MA, Seo S, Thedens DR, Berry CJ, Weiss R. Leptin resistance contributes obesity and hypertension in mouse models of BBS. J Clin Invest. 2008;118:1458-67. (Pubitemid 351500439)
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.4
, pp. 1458-1467
-
-
Rahmouni, K.1
Fath, M.A.2
Seo, S.3
Thedens, D.R.4
Berry, C.J.5
Weiss, R.6
Nishimura, D.Y.7
Sheffield, V.C.8
-
15
-
-
4444254983
-
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
-
DOI 10.1038/ng1418
-
Kulga HM, Leitch CC, Eichers ER, Banado JL, Lesemann A, Hoskins BE, et al. Loss of BBS proteins cause anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004;36:994-8. (Pubitemid 39167497)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, pp. 994-998
-
-
Kulaga, H.M.1
Leitch, C.C.2
Eichers, E.R.3
Badano, J.L.4
Lesemann, A.5
Hoskins, B.E.6
Lupski, J.R.7
Beales, P.L.8
Reed, R.R.9
Katsanis, N.10
-
16
-
-
41949116864
-
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
-
DOI 10.1073/pnas.0711027105
-
Berbari NF, Lewis JS, Bishop GA, Askwith CC, Mykytyn, K. Bardet-Biedl syndrome proteins are required for the localization of G protein coupled receptors to primary cilia. PNAS. 2008;105(11):4242-6. (Pubitemid 351754365)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.11
, pp. 4242-4246
-
-
Berbari, N.F.1
Lewis, J.S.2
Bishop, G.A.3
Askwith, C.C.4
Mykytyn, K.5
-
18
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
DOI 10.1038/ng1076
-
Nauli SM, Alenghat FJ, Luo Ying, Williams E, Vassilev P, Li Xiaogang, et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003;33:129-37. (Pubitemid 36177063)
-
(2003)
Nature Genetics
, vol.33
, Issue.2
, pp. 129-137
-
-
Nauli, S.M.1
Alenghat, F.J.2
Luo, Y.3
Williams, E.4
Vassilev, P.5
Li, X.6
Elia, A.E.H.7
Lu, W.8
Brown, E.M.9
Quinn, S.J.10
Ingber, D.E.11
Zhou, J.12
-
19
-
-
34250012834
-
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
-
DOI 10.1016/j.cell.2007.03.053, PII S009286740700534X
-
Nachury MV, Loktev AV, Zhang Q, Westkake CJ, Peranen J, Merdes A, et al. A core complex of BBS proteins cooperate with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129:1201-13. (Pubitemid 46891037)
-
(2007)
Cell
, vol.129
, Issue.6
, pp. 1201-1213
-
-
Nachury, M.V.1
Loktev, A.V.2
Zhang, Q.3
Westlake, C.J.4
Peranen, J.5
Merdes, A.6
Slusarski, D.C.7
Scheller, R.H.8
Bazan, J.F.9
Sheffield, V.C.10
Jackson, P.K.11
-
20
-
-
28144460266
-
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
-
DOI 10.1086/498323
-
Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet. 2005;77(6):1021-33. (Pubitemid 41698522)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.6
, 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
Merin, S.7
Weleber, R.G.8
Biesecker, L.G.9
Stone, E.M.10
Sheffield, V.C.11
-
21
-
-
1842579395
-
The oligogenic properties of Bardet-Biedl syndrome
-
Complex Diseases
-
Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004;13(suppl 1):R65-71. (Pubitemid 38443800)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.REV. ISS. 1
-
-
Katsanis, N.1
-
22
-
-
41349103272
-
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
-
DOI 10.1038/ng.97, PII NG97
-
Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Faont A, Rix S, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with BBS. Nat Genet. 2008;40:443-8. (Pubitemid 351450887)
-
(2008)
Nature Genetics
, vol.40
, Issue.4
, pp. 443-448
-
-
Leitch, C.C.1
Zaghloul, N.A.2
Davis, E.E.3
Stoetzel, C.4
Diaz-Font, A.5
Rix, S.6
Al-Fadhel, M.7
Lewis, R.A.8
Eyaid, W.9
Banin, E.10
Dollfus, H.11
Beales, P.L.12
Badano, J.L.13
Katsanis, N.14
-
23
-
-
77953383050
-
Bardet-Biedl syndrome with end-stage kidney disease
-
Rathi M, Ganguli A, Singh SK, Kohli HS, Gupta KL, Sakhuja V, et al. Bardet-Biedl syndrome with end-stage kidney disease. Indian J Nephrol. 2007;17:10-3.
-
(2007)
Indian J Nephrol
, vol.17
, pp. 10-13
-
-
Rathi, M.1
Ganguli, A.2
Singh, S.K.3
Kohli, H.S.4
Gupta, K.L.5
Sakhuja, V.6
|