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Items: 1 to 20 of 105

1.

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S.

N Engl J Med. 2007 Jan 18;356(3):237-47.

2.

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.

Mazen I, El-Gammal M, Abdel-Hamid M, Farooqi IS, Amr K.

Mol Genet Metab. 2011 Apr;102(4):461-4. doi: 10.1016/j.ymgme.2010.12.013. Epub 2010 Dec 31.

PMID:
21306929
3.

Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.

Branson R, Potoczna N, Kral JG, Lentes KU, Hoehe MR, Horber FF.

N Engl J Med. 2003 Mar 20;348(12):1096-103.

4.

Congenital leptin deficiency is associated with severe early-onset obesity in humans.

Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S.

Nature. 1997 Jun 26;387(6636):903-8.

PMID:
9202122
5.

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S.

N Engl J Med. 2003 Mar 20;348(12):1085-95.

6.

Leptin and leptin receptor-related monogenic obesity.

Dubern B, Clement K.

Biochimie. 2012 Oct;94(10):2111-5. doi: 10.1016/j.biochi.2012.05.010. Epub 2012 May 22. Review.

PMID:
22627381
7.

Leptin and the onset of puberty: insights from rodent and human genetics.

Farooqi IS.

Semin Reprod Med. 2002 May;20(2):139-44. Review.

PMID:
12087499
8.

Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.

Huvenne H, Le Beyec J, Pépin D, Alili R, Kherchiche PP, Jeannic E, Frelut ML, Lacorte JM, Nicolino M, Viard A, Laville M, Ledoux S, Tounian P, Poitou C, Dubern B, Clément K.

J Clin Endocrinol Metab. 2015 May;100(5):E757-66. doi: 10.1210/jc.2015-1036. Epub 2015 Mar 9.

PMID:
25751111
9.

Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.

Le Beyec J, Cugnet-Anceau C, Pépin D, Alili R, Cotillard A, Lacorte JM, Basdevant A, Laville M, Clément K.

J Clin Endocrinol Metab. 2013 Feb;98(2):E397-402. doi: 10.1210/jc.2012-2779. Epub 2012 Dec 28.

PMID:
23275530
10.

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.

Saeed S, Butt TA, Anwer M, Arslan M, Froguel P.

Mol Genet Metab. 2012 May;106(1):121-6. doi: 10.1016/j.ymgme.2012.03.001. Epub 2012 Mar 10. Erratum in: Mol Genet Metab. 2013 Aug;109(4):404.

PMID:
22463805
11.

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S.

J Clin Invest. 2000 Jul;106(2):271-9.

12.

A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness.

Fischer-Posovszky P, von Schnurbein J, Moepps B, Lahr G, Strauss G, Barth TF, Kassubek J, Mühleder H, Möller P, Debatin KM, Gierschik P, Wabitsch M.

J Clin Endocrinol Metab. 2010 Jun;95(6):2836-40. doi: 10.1210/jc.2009-2466. Epub 2010 Apr 9.

PMID:
20382689
13.

Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population.

Saeed S, Bonnefond A, Manzoor J, Shabir F, Ayesha H, Philippe J, Durand E, Crouch H, Sand O, Ali M, Butt T, Rathore AW, Falchi M, Arslan M, Froguel P.

Obesity (Silver Spring). 2015 Aug;23(8):1687-95. doi: 10.1002/oby.21142. Epub 2015 Jul 14.

PMID:
26179253
14.
15.

Hyperphagia, not hypometabolism, causes early onset obesity in melanocortin-4 receptor knockout mice.

Weide K, Christ N, Moar KM, Arens J, Hinney A, Mercer JG, Eiden S, Schmidt I.

Physiol Genomics. 2003 Mar 18;13(1):47-56.

16.

Differential effects of leptin receptor mutation on male and female BBDR Gimap5-/Gimap5- spontaneously diabetic rats.

Moralejo DH, Hansen CT, Treuting P, Hessner MJ, Fuller JM, Van Yserloo B, Jensen R, Osborne W, Kwitek AE, Lernmark A.

Physiol Genomics. 2010 Mar 3;41(1):9-20. doi: 10.1152/physiolgenomics.00186.2009. Epub 2009 Dec 8.

17.

[Monogenic forms of obesity: from mice to human].

Clément K.

Ann Endocrinol (Paris). 2000 Dec;61 Suppl 6:39-49. Review. French.

PMID:
11148335
18.

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.

Clément K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougnères P, Lebouc Y, Froguel P, Guy-Grand B.

Nature. 1998 Mar 26;392(6674):398-401.

PMID:
9537324
19.

Association analysis of the Gln223Arg polymorphism in the human leptin receptor gene, and traits related to obesity in Mexican adolescents.

Guízar-Mendoza JM, Amador-Licona N, Flores-Martínez SE, López-Cardona MG, Ahuatzin-Trémary R, Sánchez-Corona J.

J Hum Hypertens. 2005 May;19(5):341-6.

PMID:
15660115
20.

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.

Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P.

J Clin Endocrinol Metab. 2015 Sep;100(9):3227-30. doi: 10.1210/jc.2015-2263. Epub 2015 Jul 17.

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