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Year | Number of Results |
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2001 | 1 |
2011 | 1 |
2017 | 1 |
2019 | 1 |
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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 Mar;68(3):606-16. doi: 10.1086/318794. Epub 2001 Feb 1.
Am J Hum Genet. 2001.
PMID: 11179009
Free PMC article.
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah A, Umair M, Yousaf M, Khan SA, Nazim-Ud-Din M, Shah K, Ahmad F, Azeem Z, Ali G, Alhaddad B, Rafique A, Jan A, Haack TB, Strom TM, Meitinger T, Ghous T, Ahmad W.
Ullah A, et al.
Mol Vis. 2017 Jul 21;23:482-494. eCollection 2017.
Mol Vis. 2017.
PMID: 28761321
Free PMC article.
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Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck-Thambo C, Poch O, Dollfus H, Schaefer E, Muller J.
Mary L, et al.
Clin Genet. 2019 Mar;95(3):384-397. doi: 10.1111/cge.13500.
Clin Genet. 2019.
PMID: 30614526
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Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
Feuillan PP, Ng D, Han JC, Sapp JC, Wetsch K, Spaulding E, Zheng YC, Caruso RC, Brooks BP, Johnston JJ, Yanovski JA, Biesecker LG.
Feuillan PP, et al.
J Clin Endocrinol Metab. 2011 Mar;96(3):E528-35. doi: 10.1210/jc.2010-2290. Epub 2011 Jan 5.
J Clin Endocrinol Metab. 2011.
PMID: 21209035
Free PMC article.
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