Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure
Kang et al.
Hum Reprod 2008;23:1457-1465.
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Bardet-biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.
Benzinou et al.
Diabetes 2006;55:2876-2882.
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Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
Badano et al.
Hum Mol Genet 2003;12:1651-1659.
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Retinal Function in Carriers of Bardet-Biedl Syndrome
Cox et al.
Arch Ophthalmol 2003;121:804-810.
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An infant with polydactyly and renal anomalies: early diagnosis of a rare syndrome
Magen et al.
Nephrol Dial Transplant 2002;17:2261-2264.
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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Nishimura et al.
Hum Mol Genet 2001;10:865-874.
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Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome
Beales et al.
Nephrol Dial Transplant 2000;15:1977-1985.
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Bardet-Biedl and Cohen syndromes: differential diagnostic criteria
WARBURG et al.
J. Med. Genet. 2000;37:46e-46.
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Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
David et al.
J. Med. Genet. 1999;36:599-603.
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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
Beales et al.
J. Med. Genet. 1999;36:437-446.
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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome
Riise et al.
Br. J. Ophthalmol. 1997;81:378-385.
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Seven Hereditary Syndromes with Pigmentary Retinopathy: A Review and Differential Diagnosis
Cantani et al.
CLIN PEDIATR 1985;24:578-583.
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