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Items: 1 to 20 of 164

1.

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.

J Clin Endocrinol Metab. 2011 Mar;96(3):E528-35. doi: 10.1210/jc.2010-2290. Epub 2011 Jan 5.

2.

Obesity in patients with Bardet-Biedl syndrome: influence of appetite-regulating hormones.

Büscher AK, Cetiner M, Büscher R, Wingen AM, Hauffa BP, Hoyer PF.

Pediatr Nephrol. 2012 Nov;27(11):2065-2071. doi: 10.1007/s00467-012-2220-y. Epub 2012 Jun 5.

PMID:
22669322
3.

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F.

BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0.

4.

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.

Rahmouni K, Fath MA, Seo S, Thedens DR, Berry CJ, Weiss R, Nishimura DY, Sheffield VC.

J Clin Invest. 2008 Apr;118(4):1458-67. doi: 10.1172/JCI32357.

5.

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Ece Solmaz A, Onay H, Atik T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, Bas VN, Hazan F, Kirbiyik O, Ozkinay F.

Eur J Med Genet. 2015 Dec;58(12):689-94. doi: 10.1016/j.ejmg.2015.10.011. Epub 2015 Oct 27.

PMID:
26518167
6.

Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass.

Birk RZ, Ermakov S, Livshits G.

Obesity (Silver Spring). 2013 Aug;21(8):1684-9. doi: 10.1002/oby.20056. Epub 2013 May 17.

7.

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.

Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC.

Hum Mol Genet. 2009 Apr 1;18(7):1323-31. doi: 10.1093/hmg/ddp031. Epub 2009 Jan 15.

8.

Genotype-phenotype correlations in Bardet-Biedl syndrome.

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL.

Arch Ophthalmol. 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89.

PMID:
22410627
9.

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.

Castro-Sánchez S, Álvarez-Satta M, Cortón M, Guillén E, Ayuso C, Valverde D.

J Med Genet. 2015 Aug;52(8):503-13. doi: 10.1136/jmedgenet-2015-103099. Epub 2015 Jun 16.

PMID:
26082521
10.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E.

J Med Genet. 2010 Jul;47(7):453-63. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.

PMID:
20472660
11.

Hyperphagia among patients with Bardet-Biedl syndrome.

Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA.

Pediatr Obes. 2013 Oct;8(5):e64-7. doi: 10.1111/j.2047-6310.2013.00182.x. Epub 2013 Jun 18.

12.

Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.

Fan Y, Rahman P, Peddle L, Hefferton D, Gladney N, Moore SJ, Green JS, Parfrey PS, Davidson WS.

Int J Obes Relat Metab Disord. 2004 May;28(5):680-4.

PMID:
14993910
13.

Adiponectin independently predicts metabolic syndrome in overweight Latino youth.

Shaibi GQ, Cruz ML, Weigensberg MJ, Toledo-Corral CM, Lane CJ, Kelly LA, Davis JN, Koebnick C, Ventura EE, Roberts CK, Goran MI.

J Clin Endocrinol Metab. 2007 May;92(5):1809-13. Epub 2007 Feb 20.

PMID:
17311859
14.

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.

Aliferis K, Hellé S, Gyapay G, Duchatelet S, Stoetzel C, Mandel JL, Dollfus H.

Ophthalmic Genet. 2012 Mar;33(1):18-22. doi: 10.3109/13816810.2011.620055. Epub 2011 Oct 17.

PMID:
22004009
15.

[Body composition, biochemical and clinical changes of adolescents with excessive adiposity].

Serrano HM, Carvalho GQ, Pereira PF, Peluzio Mdo C, Franceschini Sdo C, Priore SE.

Arq Bras Cardiol. 2010 Oct;95(4):464-72. Epub 2010 Aug 13. Multiple languages.

16.

The relationship between serum adiponectin, tumor necrosis factor-alpha, leptin levels and insulin sensitivity in childhood and adolescent obesity: adiponectin is a marker of metabolic syndrome.

Alikaşifoğlu A, Gönç N, Özön ZA, Sen Y, Kandemir N.

J Clin Res Pediatr Endocrinol. 2009;1(5):233-9. doi: 10.4274/jcrpe.v1i5.233. Epub 2009 Aug 4.

17.

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Fattahi Z, Rostami P, Najmabadi A, Mohseni M, Kahrizi K, Akbari MR, Kariminejad A, Najmabadi H.

J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22.

PMID:
24849935
18.

A prospective study of maternal prenatal weight and offspring cardiometabolic health in midchildhood.

Perng W, Gillman MW, Mantzoros CS, Oken E.

Ann Epidemiol. 2014 Nov;24(11):793-800.e1. doi: 10.1016/j.annepidem.2014.08.002. Epub 2014 Sep 3.

19.

Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

Minton JA, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, Porter JR, Carey C, Hodge D, Paisey R, Walker M, Barrett TG.

J Clin Endocrinol Metab. 2006 Aug;91(8):3110-6. Epub 2006 May 23.

PMID:
16720663
20.

Role of leptin G-2548A polymorphism in age- and gender-specific development of obesity.

Shahid A, Rana S, Mahmood S, Saeed S.

J Biosci. 2015 Sep;40(3):521-30.

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