-
2
-
-
0001539825
-
Ein geschwisterpaar mit adiposo-geneitaler dystrophie
-
Biedl A. Ein geschwisterpaar mit adiposo-geneitaler dystrophie. Dtsch Med Wochenschr, 1922;48:1630.
-
(1922)
Dtsch Med Wochenschr
, vol.48
, pp. 1630
-
-
Biedl, A.1
-
3
-
-
85030827403
-
-
RETNET: http://www.sph.uth.tmc.edu/Retnet/disease.htm
-
-
-
-
4
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder
-
Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE et al. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. Science, 2001;293:2256-9.
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Ansley, S.J.2
Badano, J.L.3
Eichers, E.R.4
Lewis, R.A.5
Hoskins, B.E.6
-
5
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature, 2003;425:628-33.
-
(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
-
6
-
-
0029331506
-
Laurence, Moon, Bardet, and Biedl: Refections on a syndrome
-
Bray GA. Laurence, Moon, Bardet, and Biedl: refections on a syndrome. Obes Res, 1995;3:383-6.
-
(1995)
Obes Res
, vol.3
, pp. 383-386
-
-
Bray, G.A.1
-
7
-
-
0031040854
-
Bardet-Biedl syndrome: A molecular and phenotypic study of 18 families
-
Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet, 1997; 34:92-8.
-
(1997)
J Med Genet
, vol.34
, pp. 92-98
-
-
Beales, P.L.1
Warner, A.M.2
Hitman, G.A.3
Thakker, R.4
Flinter, F.A.5
-
8
-
-
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;36:437-46.
-
(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
-
9
-
-
0023852163
-
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population
-
Farag TI, Teebi AS. Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin genet, 1988;33:78-82.
-
(1988)
Clin Genet
, vol.33
, pp. 78-82
-
-
Farag, T.I.1
Teebi, A.S.2
-
10
-
-
0031855921
-
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with variable phenotype
-
Young TL, Woods MO, Parfrey PS, Green JS, O'Leary E, Hefferton D, et al. Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with variable phenotype. Am J Med Genet, 1998;78:461-7.
-
(1998)
Am J Med Genet
, vol.78
, pp. 461-467
-
-
Young, T.L.1
Woods, M.O.2
Parfrey, P.S.3
Green, J.S.4
O'Leary, E.5
Hefferton, D.6
-
11
-
-
0030905177
-
Intrafamilal variation of the phenotype in Bardet-Biedl syndrome
-
Ruse R, Andreasson S, Borgastrom MK, Wright AF, Tommerup N, Rosenberg T, et al. Intrafamilal variation of the phenotype in Bardet-Biedl syndrome. Br J Ophthalmol, 1997;81:378-85.
-
(1997)
Br J Ophthalmol
, vol.81
, pp. 378-385
-
-
Ruse, R.1
Andreasson, S.2
Borgastrom, M.K.3
Wright, A.F.4
Tommerup, N.5
Rosenberg, T.6
-
12
-
-
0020448757
-
Ocular and systemic manifestations of the Bardet-Biedl syndrome
-
Camp RV, Aaberg TM. Ocular and systemic manifestations of the Bardet-Biedl syndrome. Am J Ophthalmol, 1982;94: 750-6.
-
(1982)
Am J Ophthalmol
, vol.94
, pp. 750-756
-
-
Camp, R.V.1
Aaberg, T.M.2
-
13
-
-
0023501190
-
Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases
-
Ruse R. Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases. Acta Opthalmol Suppl, 1987;182:128-31.
-
(1987)
Acta Opthalmol Suppl
, vol.182
, pp. 128-131
-
-
Ruse, R.1
-
14
-
-
0023812018
-
Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome
-
Leys MJ, Schreiner LA, Hansen RM, Mayer DL, Fulton AB. Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome. Am J Ophthalmol, 1988;106:561-9.
-
(1988)
Am J Ophthalmol
, vol.106
, pp. 561-569
-
-
Leys, M.J.1
Schreiner, L.A.2
Hansen, R.M.3
Mayer, D.L.4
Fulton, A.B.5
-
15
-
-
0027383341
-
Natural course of visual functions in the Bardet-Biedl syndrome
-
Fulton AB, Hansen RM, Glynn RJ. Natural course of visual functions in the Bardet-Biedl syndrome. Arch Ophthalmol, 1993;111:1500-6.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1500-1506
-
-
Fulton, A.B.1
Hansen, R.M.2
Glynn, R.J.3
-
16
-
-
0028941109
-
Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome
-
Bek T, Rosenberg T. Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome. Br J Ophthalmol, 1995;79:76-80.
-
(1995)
Br J Ophthalmol
, vol.79
, pp. 76-80
-
-
Bek, T.1
Rosenberg, T.2
-
17
-
-
0029961602
-
Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype
-
Iannaconne A, Vingolo EM, Rispoli E, De Propis G, Tanzilli P, Pannarale MR. Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. Acta Ophthalmol Scand, 1996;74:8-13.
-
(1996)
Acta Ophthalmol Scand
, vol.74
, pp. 8-13
-
-
Iannaconne, A.1
Vingolo, E.M.2
Rispoli, E.3
De Propis, G.4
Tanzilli, P.5
Pannarale, M.R.6
-
18
-
-
0030967419
-
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa
-
Iannaconne A, De Propris G, Roncati S, Rispoli E, Del Porto G, Pannarale MR. The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. Ophthalmic Genet, 1997;18:13-26.
-
(1997)
Ophthalmic Genet
, vol.18
, pp. 13-26
-
-
Iannaconne, A.1
De Propris, G.2
Roncati, S.3
Rispoli, E.4
Del Porto, G.5
Pannarale, M.R.6
-
19
-
-
0029665986
-
The cause of death in Laurence-Moon-Bardet-Biedl syndrome
-
Riise R. The cause of death in Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol Scand Suppl, 1996;74:45-7.
-
(1996)
Acta Ophthalmol Scand Suppl
, vol.74
, pp. 45-47
-
-
Riise, R.1
-
20
-
-
0033285944
-
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl
-
Spaggiari E, Salati R, Nicolini P, Borgatti R, Pozzoli U, Polenghi F. Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl. Int Ophthalmol, 1999;23:61-7.
-
(1999)
Int Ophthalmol
, vol.23
, pp. 61-67
-
-
Spaggiari, E.1
Salati, R.2
Nicolini, P.3
Borgatti, R.4
Pozzoli, U.5
Polenghi, F.6
-
21
-
-
13844267160
-
Retinal function in carriers of Bardet-Biedl syndrome
-
Cox GF, Hansen RM, Quinn N, Fulton AB. Retinal function in carriers of Bardet-Biedl syndrome. Int Ophthalmol, 1999;23:61-7.
-
(1999)
Int Ophthalmol
, vol.23
, pp. 61-67
-
-
Cox, G.F.1
Hansen, R.M.2
Quinn, N.3
Fulton, A.B.4
-
22
-
-
0024472754
-
The cardinal manifestations of Eardet-Biedl syndrome, a form of Laurence-Moon-Biedl
-
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Eardet-Biedl syndrome, a form of Laurence-Moon-Biedl. N Engl J Med, 1989;321: 1002-9.
-
(1989)
N Engl J Med
, vol.321
, 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
-
23
-
-
0029989948
-
Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: A radiographie study
-
Rudling O, Riise T, Tornqvist K, Jonsoson K. Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: a radiographie study. Skeletal Radiol, 1996;25:655-60.
-
(1996)
Skeletal Radiol
, vol.25
, pp. 655-660
-
-
Rudling, O.1
Riise, T.2
Tornqvist, K.3
Jonsoson, K.4
-
24
-
-
0035091950
-
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci
-
Beales PL, Katsanis N, Lewis RA, Ansley SJ, Eldoglu N, Raza J, et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet, 2001;68:606-16.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 606-616
-
-
Beales, P.L.1
Katsanis, N.2
Lewis, R.A.3
Ansley, S.J.4
Eldoglu, N.5
Raza, J.6
-
25
-
-
0029834623
-
Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome
-
Soliman AT, Rajab A, AlSalmi I, Asfour MG. Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome. Metabolism, 1996;45:1230-4.
-
(1996)
Metabolism
, vol.45
, pp. 1230-1234
-
-
Soliman, A.T.1
Rajab, A.2
AlSalmi, I.3
Asfour, M.G.4
-
26
-
-
0016695877
-
Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl
-
Bergsma DR, Brown KS. Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl. Birth Defects Orig Artic Ser, 1975;11: 132-6.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 132-136
-
-
Bergsma, D.R.1
Brown, K.S.2
-
27
-
-
0028809099
-
Genital abnormalities in females with Bardet-Biedl syndrome
-
Stoler JM, Herrin JT, Holmes LB. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet, 1995; 55:276-8.
-
(1995)
Am J Med Genet
, vol.55
, pp. 276-278
-
-
Stoler, J.M.1
Herrin, J.T.2
Holmes, L.B.3
-
28
-
-
13044269664
-
Vaginal atresia and Bardet-Biedl syndrome association: A component or a distinct entity
-
Oguzkurt P, Tanyel FC, Hicsonmez A. Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity. J Pediatr Surg, 1999; 34:504-6.
-
(1999)
J Pediatr Surg
, vol.34
, pp. 504-506
-
-
Oguzkurt, P.1
Tanyel, F.C.2
Hicsonmez, A.3
-
29
-
-
0032797558
-
Hydrometrocolpos and polydactyly: A common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
-
David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J et al. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet, 1999;36:599-603.
-
(1999)
J Med Genet
, vol.36
, pp. 599-603
-
-
David, A.1
Bitoun, P.2
Lacombe, D.3
Lambert, J.C.4
Nivelon, A.5
Vigneron, J.6
-
30
-
-
0031887164
-
Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: Are they related
-
Schaap C, ten Tusscher MP, Schrander JJ, Kuijten RH, Schrander-Stumpel CT. Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related. Eur J Pediatr, 1998; 157:170-1.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 170-171
-
-
Schaap, C.1
Ten Tusscher, M.P.2
Schrander, J.J.3
Kuijten, R.H.4
Schrander-Stumpel, C.T.5
-
31
-
-
0034722869
-
Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review
-
Slavotinek AM, Biesecker LG. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am J Med Genet, 2000;95:208-15.
-
(2000)
Am J Med Genet
, vol.95
, pp. 208-215
-
-
Slavotinek, A.M.1
Biesecker, L.G.2
-
32
-
-
0033812186
-
Mutations in MKKS cause Bardet-Biedl syndrome
-
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E et al. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet, 2000;26:15-6.
-
(2000)
Nat Genet
, 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
-
33
-
-
0021407993
-
Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. A Propos of 3 cases
-
Gourdol O, David L, Colon S, Bouvier R, Ayral A, Aguercif M et al. [Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome. A Propos of 3 cases]. Pediatrie, 1984;39:175-81.
-
(1984)
Pediatrie
, vol.39
, pp. 175-181
-
-
Gourdol, O.1
David, L.2
Colon, S.3
Bouvier, R.4
Ayral, A.5
Aguercif, M.6
-
34
-
-
0023487819
-
La néphropathie glomérulaire du syndrome de Bardet-Biedl
-
François B, Cahen R, Trolliet P, Calemard E, Gilly J, Dumontel C. La néphropathie glomérulaire du syndrome de Bardet-Biedl. Nephrologie, 1987;8:189-92.
-
(1987)
Nephrologie
, vol.8
, pp. 189-192
-
-
François, B.1
Cahen, R.2
Trolliet, P.3
Calemard, E.4
Gilly, J.5
Dumontel, C.6
-
35
-
-
0023789504
-
The spectrum of renal disease in Laurence-Moon-Biedl syndrome
-
Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med, 1988;319:615-8.
-
(1988)
N Engl J Med
, vol.319
, pp. 615-618
-
-
Harnett, J.D.1
Green, J.S.2
Cramer, B.C.3
Johnson, G.4
Chafe, L.5
McManamon, P.6
-
36
-
-
0025332276
-
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs
-
Croft JB, Swift M. Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. Am J Med Genet, 1990;36:37-42.
-
(1990)
Am J Med Genet
, vol.36
, pp. 37-42
-
-
Croft, J.B.1
Swift, M.2
-
37
-
-
0027431716
-
Clinical aspects of renal involvement in Bardet-Biedl syndrome
-
Anadoliiska A, Roussinov D. Clinical aspects of renal involvement in Bardet-Biedl syndrome. Int Urol Nephrol, 1993;25:509-14.
-
(1993)
Int Urol Nephrol
, vol.25
, pp. 509-514
-
-
Anadoliiska, A.1
Roussinov, D.2
-
38
-
-
0029042087
-
Obesity and genitourinary anomalies in Bardet-Biedl syndrome after renal transplantation
-
Devarajan P. Obesity and genitourinary anomalies in Bardet-Biedl syndrome after renal transplantation. Pediatr Nephrol, 1995;9:397-8.
-
(1995)
Pediatr Nephrol
, vol.9
, pp. 397-398
-
-
Devarajan, P.1
-
40
-
-
0029936390
-
The importance of renal impairment in the natural history of Bardet-Biedl syndrome
-
O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis, 1996;27:776-83.
-
(1996)
Am J Kidney Dis
, vol.27
, pp. 776-783
-
-
O'Dea, D.1
Parfrey, P.S.2
Harnett, J.D.3
Hefferton, D.4
Cramer, B.C.5
Green, J.6
-
41
-
-
0031024615
-
Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: Report of five case
-
Ucar B, Yakut Ayten, Kural Nurdan, Büyükasik F, Vardareli E. Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five case. Pediatr Nephrol, 1997;11:31-5.
-
(1997)
Pediatr Nephrol
, vol.11
, pp. 31-35
-
-
Ucar, B.1
Ayten, Y.2
Nurdan, K.3
Büyükasik, F.4
Vardareli, E.5
-
42
-
-
0031655424
-
Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome
-
Dippell J, Varlam DE. Early sonographic aspects of kidney morphology in Bardet-Biedl syndrome. Pediatr Nephrol, 1998; 12:559-63.
-
(1998)
Pediatr Nephrol
, vol.12
, pp. 559-563
-
-
Dippell, J.1
Varlam, D.E.2
-
43
-
-
0030841806
-
End-stage renal disease due to Bardet-Biedl syndrome
-
Hergesell O. End-stage renal disease due to Bardet-Biedl syndrome. Nephrol Dial Transplant, 1997;12:1773-4.
-
(1997)
Nephrol Dial Transplant
, vol.12
, pp. 1773-1774
-
-
Hergesell, O.1
-
44
-
-
0026662914
-
Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome
-
Gershoni-Baruch R, Nachlieli T, Leibo R, Degani S, Weissman I. Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome. Am J Med Genet, 1992;44:269-73.
-
(1992)
Am J Med Genet
, vol.44
, pp. 269-273
-
-
Gershoni-Baruch, R.1
Nachlieli, T.2
Leibo, R.3
Degani, S.4
Weissman, I.5
-
45
-
-
9644276962
-
Special imaging casebook. Neonatal Bardet-Biedl syndrome with renal abnormalities and with vesicovaginal fistula
-
Herman TE, Siegel MJ. Special imaging casebook. Neonatal Bardet-Biedl syndrome with renal abnormalities and with vesicovaginal fistula. J Perinatol, 1999; 19:74-6.
-
(1999)
J Perinatol
, vol.19
, pp. 74-76
-
-
Herman, T.E.1
Siegel, M.J.2
-
46
-
-
0019812998
-
Ultrastructural changes in the glomerular basement membrane of patients with Laurence-Moon-Biedl-Bardet syndrome
-
Price D, Gartner JG, Kaplan BS. Ultrastructural changes in the glomerular basement membrane of patients with Laurence-Moon-Biedl-Bardet syndrome. Clin Nephrol, 1981;16:283-8.
-
(1981)
Clin Nephrol
, vol.16
, pp. 283-288
-
-
Price, D.1
Gartner, J.G.2
Kaplan, B.S.3
-
47
-
-
0019919694
-
Renal abnormalities in the Bardet-Biedl syndrome
-
Tieder M, Levy M, Gubler MC, Cagnadoux MF, Broyer M. Renal abnormalities in the Bardet-Biedl syndrome. Int J Pediatr Nephrol, 1982;3:199-203.
-
(1982)
Int J Pediatr Nephrol
, vol.3
, pp. 199-203
-
-
Tieder, M.1
Levy, M.2
Gubler, M.C.3
Cagnadoux, M.F.4
Broyer, M.5
-
48
-
-
0033658359
-
Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome
-
Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS. Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. Nephrol Dial Transplant, 2000;15:1977-85.
-
(2000)
Nephrol Dial Transplant
, vol.15
, pp. 1977-1985
-
-
Beales, P.L.1
Reid, H.A.2
Griffiths, M.H.3
Maher, E.R.4
Flinter, F.A.5
Woolf, A.S.6
-
49
-
-
17444451586
-
Behavioural phenotype of Bardet-Biedl syndrome
-
Barnett S, Reilly S, Carr L, Ojo I, Beales PL, Charman T. Behavioural phenotype of Bardet-Biedl syndrome. J Med Genet, 2002;39:e76.
-
(2002)
J Med Genet
, vol.39
-
-
Barnett, S.1
Reilly, S.2
Carr, L.3
Ojo, I.4
Beales, P.L.5
Charman, T.6
-
51
-
-
0027715666
-
Syndrome de Laurence-Moon (Bardet-Biedl) avec déficit en hormone de croissance
-
Chalvon-Demersay A, Tardieu M, Crosnier H, Bénichou JJ, Pienkowski C, Rochicchioli P, et al. Syndrome de Laurence-Moon (Bardet-Biedl) avec déficit en hormone de croissance. Arch Fr Pediatr, 1993;50:859-6253.
-
(1993)
Arch Fr Pediatr
, vol.50
, pp. 859-6253
-
-
Chalvon-Demersay, A.1
Tardieu, M.2
Crosnier, H.3
Bénichou, J.J.4
Pienkowski, C.5
Rochicchioli, P.6
-
52
-
-
0022970542
-
Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype
-
Rizzo JF 3rd, Berson EL, Lessell S. Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype. Ophthalmology, 1986;93:1452-6.
-
(1986)
Ophthalmology
, vol.93
, pp. 1452-1456
-
-
Rizzo III, J.F.1
Berson, E.L.2
Lessell, S.3
-
53
-
-
0032588697
-
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome
-
Urben SL, Baugh RF. Otolaryngologic features of Laurence-Moon-Bardet- Biedl syndrome. Otolaryngol Head Neck Surg, 1999;120:571-4.
-
(1999)
Otolaryngol Head Neck Surg
, vol.120
, pp. 571-574
-
-
Urben, S.L.1
Baugh, R.F.2
-
54
-
-
0020432972
-
Hepatic involvement in the Bardet-Biedl syndrome
-
Pagon RA, Haas JE, Bunt AH, Rodaway KA. Hepatic involvement in the Bardet-Biedl syndrome. Am J Med Genet, 1982;13:373-81.
-
(1982)
Am J Med Genet
, vol.13
, pp. 373-381
-
-
Pagon, R.A.1
Haas, J.E.2
Bunt, A.H.3
Rodaway, K.A.4
-
55
-
-
0024318536
-
A family with the Bardet-Biedl syndrome and diabetes mellitus
-
Escallon F, Traboulsi EI, Infante R. A family with the Bardet-Biedl syndrome and diabetes mellitus. Arch Ophthalmol, 1989;107:855-7.
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 855-857
-
-
Escallon, F.1
Traboulsi, E.I.2
Infante, R.3
-
56
-
-
84907113268
-
Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome
-
Kobrin JL, Ternand CL, Knobloch WH, Johnson DD. Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. Ophthalmic Paediatr Genet, 1990;11:299-303.
-
(1990)
Ophthalmic Paediatr Genet
, vol.11
, pp. 299-303
-
-
Kobrin, J.L.1
Ternand, C.L.2
Knobloch, W.H.3
Johnson, D.D.4
-
57
-
-
0030075589
-
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Bardet-Biedl syndrome
-
Borgstrom MK, Riise R, Tornqvist K, Granath L. Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Bardet-Biedl syndrome. J Oral Pathol Med, 1996;25:86-9.
-
(1996)
J Oral Pathol Med
, vol.25
, pp. 86-89
-
-
Borgstrom, M.K.1
Riise, R.2
Tornqvist, K.3
Granath, L.4
-
58
-
-
0033365397
-
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
-
Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, et al. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am J Hum Genet, 1999;65:1672-9.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1672-1679
-
-
Katsanis, N.1
Lewis, R.A.2
Stockton, D.W.3
Mai, P.M.4
Baird, L.5
Beales, P.L.6
-
59
-
-
0034706395
-
Bardet-Biedl syndrome type 3 in an Iranian family: Clinical study and confirmation of localization
-
Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, et al. Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of localization. Am J Med Genet, 2000;94:433-7.
-
(2000)
Am J Med Genet
, vol.94
, pp. 433-437
-
-
Ghadami, M.1
Tomita, H.A.2
Najafi, M.T.3
Damavandi, E.4
Farahvash, M.S.5
Yamada, K.6
-
60
-
-
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;72:650-8.
-
(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
-
61
-
-
0033822064
-
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
-
Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, 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
Lewis, R.A.4
Green, J.S.5
Parfrey, P.S.6
-
62
-
-
0034019637
-
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
-
Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet, 2000; 25:79-82.
-
(2000)
Nat Genet
, 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
-
63
-
-
0035311942
-
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome
-
Nishimura DY, Searby CC, Carmi R, Eldebour K, Van Maldergem L, Fulton AB, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome. Hum Mol Genet, 2001;10:865-74.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 865-874
-
-
Nishimura, D.Y.1
Searby, C.C.2
Carmi, R.3
Eldebour, K.4
Van Maldergem, L.5
Fulton, A.B.6
-
64
-
-
0036699538
-
Identification of the gene (BBS1) most commonly involved in Bardte-Bield syndrome, a complex human obesity syndrome
-
Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, et al. Identification of the gene (BBS1) most commonly involved in Bardte-Bield syndrome, a complex human obesity syndrome. Nat Genet, 2002;31:435-8.
-
(2002)
Nat Genet
, 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
-
65
-
-
0037322689
-
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
-
Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet, 2003;72:29-37.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 29-37
-
-
Mykytyn, K.1
Nishimura, D.Y.2
Searby, C.C.3
Beck, G.4
Bugge, K.5
Haines, H.L.6
-
68
-
-
2342501364
-
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
-
Li JB, Gerdes JM, Haycraft CJ, et al. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene Cell 2004;117:541-52.
-
(2004)
Cell
, vol.117
, pp. 541-552
-
-
Li, J.B.1
Gerdes, J.M.2
Haycraft, C.J.3
|