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Items: 1 to 20 of 100

1.

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.

2.

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.

3.

Energy metabolism in Bardet-Biedl syndrome.

Grace C, Beales P, Summerbell C, Jebb SA, Wright A, Parker D, Kopelman P.

Int J Obes Relat Metab Disord. 2003 Nov;27(11):1319-24.

PMID:
14574341
4.

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):2065-71. doi: 10.1007/s00467-012-2220-y.

PMID:
22669322
5.

[Current status and implication of research on Bardet-Biedl syndrome].

Shen T, Yan XM, Xiao CJ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):570-3. doi: 10.3760/cma.j.issn.1003-9406.2013.05.013. Review. Chinese.

PMID:
24078572
6.

Molecular basis of the obesity associated with Bardet-Biedl syndrome.

Guo DF, Rahmouni K.

Trends Endocrinol Metab. 2011 Jul;22(7):286-93. doi: 10.1016/j.tem.2011.02.009. Review.

7.

A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child.

Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K.

Brain Dev. 2014 Sep;36(8):721-4. doi: 10.1016/j.braindev.2013.10.013.

PMID:
24290075
8.

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.

9.

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.

Hamlington B, Ivey LE, Brenna E, Biesecker LG, Biesecker BB, Sapp JC.

PLoS One. 2015 Oct 16;10(10):e0140705. doi: 10.1371/journal.pone.0140705.

10.

Roux-en-Y gastric bypass in an adolescent patient with Bardet-Biedl syndrome, a monogenic obesity disorder.

Daskalakis M, Till H, Kiess W, Weiner RA.

Obes Surg. 2010 Jan;20(1):121-5. doi: 10.1007/s11695-009-9915-6.

PMID:
19847573
11.

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

Szmigielska A, Krzemień G, Roszkowska-Blaim M, Obersztyn E.

Dev Period Med. 2016 Apr-Jun;20(2):105-9.

PMID:
27442694
12.

Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

Andrade LJ, Andrade R, França CS, Bittencourt AV.

Arq Bras Oftalmol. 2009 Sep-Oct;72(5):694-6. Review.

13.

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, Rahmouni K, Davis RE, Tayeh MK, Andrews M, Yang B, Sigmund CD, Stone EM, Sheffield VC.

Hum Mol Genet. 2005 May 1;14(9):1109-18.

14.

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

Slavotinek AM, Biesecker LG.

Am J Med Genet. 2000 Nov 27;95(3):208-15. Review.

PMID:
11102925
15.

Craniopharyngioma and Bardet-Biedl syndrome. A case report.

Erel CT, Oral E, Senturk LM, Aksu MF.

J Reprod Med. 2001 May;46(5):501-3.

PMID:
11396382
16.

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.

Am J Kidney Dis. 1996 Jun;27(6):776-83.

PMID:
8651240
17.

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.

Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS.

Nephrol Dial Transplant. 2000 Dec;15(12):1977-85.

18.

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.

19.

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.

Putoux A, Attie-Bitach T, Martinovic J, Gubler MC.

Pediatr Nephrol. 2012 Jan;27(1):7-15. doi: 10.1007/s00467-010-1751-3. Review.

PMID:
21246219
20.

Autism: a rare presentation of Bardet-Biedl syndrome.

Chatterjee SS, Guha P, Talukdar A, Dasgupta G.

BMJ Case Rep. 2014 Jun 4;2014. pii: bcr2014203882. doi: 10.1136/bcr-2014-203882.

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