-
1
-
-
0038744241
-
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
-
DOI 10.1086/375178
-
Beales PL, Badano JL, Ross AJ et al: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet 2003; 72: 1187-1199. (Pubitemid 36530006)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.5
, pp. 1187-1199
-
-
Beales, P.L.1
Badano, J.L.2
Ross, A.J.3
Ansley, S.J.4
Hoskins, B.E.5
Kirsten, B.6
Mein, C.A.7
Froguel, P.8
Scambler, P.J.9
Lewis, R.A.10
Lupski, J.R.11
Katsanis, N.12
-
2
-
-
79951809087
-
Bardet-Biedl syndrome
-
Cassidy S, Allanson J (eds). 3rd edn Oxford: Wiley Liss
-
Slavotinek AM: Bardet-Biedl syndrome; in Cassidy S, Allanson J (eds): Management of Genetic Syndromes. Oxford: Wiley Liss, 2010, 3rd edn, pp 111-127.
-
(2010)
Management of Genetic Syndromes
, pp. 111-127
-
-
Slavotinek, A.M.1
-
3
-
-
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 et al: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008; 40: 443-448. (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
-
4
-
-
84954488991
-
Bardet-Biedl syndrome
-
Pagon RA, Bird TC, Dolan CR, Stephens K (eds) Seattle, WA: University of Washington, Seattle 14 July [updated 22 July 2010]
-
Waters AM, Beales PL: Bardet-Biedl syndrome; in Pagon RA, Bird TC, Dolan CR, Stephens K (eds): GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle, 1993-2003 14 July [updated 22 July 2010].
-
(1993)
GeneReviews [Internet]
-
-
Waters, A.M.1
Beales, P.L.2
-
5
-
-
0000672298
-
Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en suisse
-
Ammann F: Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en suisse. J Genet Hum 1970; 18: 1-310.
-
(1970)
J Genet Hum
, vol.18
, pp. 1-310
-
-
Ammann, F.1
-
6
-
-
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. (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
-
7
-
-
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. (Pubitemid 18046715)
-
(1988)
Clinical Genetics
, vol.33
, Issue.2
, pp. 78-82
-
-
Farag, T.I.1
Teebi, A.S.2
-
8
-
-
0024366485
-
High incidence of Bardet Biedl syndrome among the Bedouin
-
Farag TI, Teebi AS: High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet 1989; 36: 463-464. (Pubitemid 20000901)
-
(1989)
Clinical Genetics
, vol.36
, Issue.6
, pp. 463-464
-
-
Farag, T.I.1
Teebi, A.S.2
-
9
-
-
0024472754
-
The cardinal manifestation of bardet-biedl syndrome, A form of Laurence-moon-biedl syndrome
-
Green JS, Parfrey PS, Harnett JD et al: The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989; 321: 1002-1009. (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
-
10
-
-
79951811006
-
-
Bardet-Biedl Syndrome Gene Sequencing Panel, Test # 269, testing for BBS1-BBS12
-
Prevention genetics (http://www.preventiongenetics.com/), Bardet-Biedl Syndrome Gene Sequencing Panel, Test # 269, testing for BBS1-BBS12.
-
Prevention Genetics
-
-
-
11
-
-
51049118124
-
Bardet-Biedl syndrome: An atypical phenotype in brothers with a proven BBS1 mutation
-
Cannon PS, Clayton-Smith J, Beales PL, Lloyd IC: Bardet-Biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. Ophthalmic Genet 2008; 29: 128-132.
-
(2008)
Ophthalmic Genet
, vol.29
, pp. 128-132
-
-
Cannon, P.S.1
Clayton-Smith, J.2
Beales, P.L.3
Lloyd, I.C.4
|