125 related articles for article (PubMed ID: 27980447)
1. A Novel Homozygous Frameshift Mutation in Exon 2 of
Altawil AS; Mawlawi HA; Alghamdi KA; Almijmaj FF
Clin Med Insights Pediatr; 2016; 10():115-118. PubMed ID: 27980447
[TBL] [Abstract][Full Text] [Related]
2. Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
Yupanqui-Lozno H; Bastarrachea RA; Yupanqui-Velazco ME; Alvarez-Jaramillo M; Medina-Méndez E; Giraldo-Peña AP; Arias-Serrano A; Torres-Forero C; Garcia-Ordoñez AM; Mastronardi CA; Restrepo CM; Rodriguez-Ayala E; Nava-Gonzalez EJ; Arcos-Burgos M; Kent JW; Cole SA; Licinio J; Celis-Regalado LG
Genes (Basel); 2019 May; 10(5):. PubMed ID: 31067764
[TBL] [Abstract][Full Text] [Related]
3. Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India.
Dayal D; Seetharaman K; Panigrahi I; Muthuvel B; Agarwal A
J Clin Res Pediatr Endocrinol; 2018 Jul; 10(3):274-278. PubMed ID: 29217499
[TBL] [Abstract][Full Text] [Related]
4. A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient.
Mazen I; El-Gammal M; Abdel-Hamid M; Amr K
Mol Genet Metab; 2009 Aug; 97(4):305-8. PubMed ID: 19427251
[TBL] [Abstract][Full Text] [Related]
5. Early-onset severe obesity due to complete deletion of the leptin gene in a boy.
Ozsu E; Ceylaner S; Onay H
J Pediatr Endocrinol Metab; 2017 Oct; 30(11):1227-1230. PubMed ID: 29040067
[TBL] [Abstract][Full Text] [Related]
6. Homozygosity for two missense mutations in the leptin receptor gene (P316:W646C) in a Turkmenian girl with severe early-onset obesity.
Andiran N; Celik N; Andiran F
J Pediatr Endocrinol Metab; 2011; 24(11-12):1043-5. PubMed ID: 22308862
[TBL] [Abstract][Full Text] [Related]
7. Early-onset severe obesity due to homozygous p.R105W (c313C> T) mutation in leptin gene in Turkish siblings: Two cases reports.
Fırat SN; Onay H
Obes Res Clin Pract; 2021; 15(6):600-603. PubMed ID: 34802983
[TBL] [Abstract][Full Text] [Related]
8. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
[TBL] [Abstract][Full Text] [Related]
9. Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.
Nalini A; Gayathri N; Yasha TC; Ravishankar S; Urtizberea A; Huehne K; Rautenstrauss B
Eur J Med Genet; 2008; 51(5):426-35. PubMed ID: 18595793
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation in leptin gene is associated with severe obesity in Chinese individuals.
Zhao Y; Hong N; Liu X; Wu B; Tang S; Yang J; Hu C; Jia W
Biomed Res Int; 2014; 2014():912052. PubMed ID: 24707501
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 23275530
[TBL] [Abstract][Full Text] [Related]
12. A novel MC4R mutation associated with childhood-onset obesity: A case report.
Doulla M; McIntyre AD; Hegele RA; Gallego PH
Paediatr Child Health; 2014 Dec; 19(10):515-8. PubMed ID: 25587224
[TBL] [Abstract][Full Text] [Related]
13. Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.
Demir K; Kattan WE; Zou M; Durmaz E; BinEssa H; Nalbantoğlu Ö; Al-Rijjal RA; Meyer B; Özkan B; Shi Y
PLoS One; 2015; 10(7):e0131376. PubMed ID: 26132292
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily.
Lupo I; Cefalu AB; Bongiorno MR; Daniele O; Valenti V; Noto D; Camarda R; Savettieri G; Aricò M; Averna MR
Br J Dermatol; 2005 Nov; 153(5):1019-22. PubMed ID: 16225617
[TBL] [Abstract][Full Text] [Related]
15. Leptin and leptin receptor-related monogenic obesity.
Dubern B; Clement K
Biochimie; 2012 Oct; 94(10):2111-5. PubMed ID: 22627381
[TBL] [Abstract][Full Text] [Related]
16. Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.
Dubern B; Bisbis S; Talbaoui H; Le Beyec J; Tounian P; Lacorte JM; Clément K
J Pediatr; 2007 Jun; 150(6):613-7, 617.e1. PubMed ID: 17517245
[TBL] [Abstract][Full Text] [Related]
17. Identification of new sequence variants in the leptin gene.
Karvonen MK; Pesonen U; Heinonen P; Laakso M; Rissanen A; Naukkarinen H; Valve R; Uusitupa MI; Koulu M
J Clin Endocrinol Metab; 1998 Sep; 83(9):3239-42. PubMed ID: 9745435
[TBL] [Abstract][Full Text] [Related]
18. [Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Dou LM; Fang LJ; Wang XH; Lu W; Chen R; Li LT; Zhao J; Wang JS
Zhonghua Er Ke Za Zhi; 2013 Apr; 51(4):302-7. PubMed ID: 23927806
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 20382689
[TBL] [Abstract][Full Text] [Related]
20. A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity.
Neocleous V; Shammas C; Phelan MM; Fanis P; Pantelidou M; Skordis N; Mantzoros C; Phylactou LA; Toumba M
Hormones (Athens); 2016 Jul; 15(3):445-452. PubMed ID: 27394708
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]