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Items: 1 to 20 of 106

1.

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.

Bonnefond A, Raimondo A, Stutzmann F, Ghoussaini M, Ramachandrappa S, Bersten DC, Durand E, Vatin V, Balkau B, Lantieri O, Raverdy V, Pattou F, Van Hul W, Van Gaal L, Peet DJ, Weill J, Miller JL, Horber F, Goldstone AP, Driscoll DJ, Bruning JB, Meyre D, Whitelaw ML, Froguel P.

J Clin Invest. 2013 Jul;123(7):3037-41. doi: 10.1172/JCI68035. Epub 2013 Jun 17.

2.

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.

Geets E, Zegers D, Beckers S, Verrijken A, Massa G, Van Hoorenbeeck K, Verhulst S, Van Gaal L, Van Hul W.

Mol Genet Metab. 2016 Mar;117(3):383-8. doi: 10.1016/j.ymgme.2016.01.003. Epub 2016 Jan 9.

PMID:
26795956
3.

Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.

Zegers D, Beckers S, Hendrickx R, Van Camp JK, de Craemer V, Verrijken A, Van Hoorenbeeck K, Verhulst SL, Rooman RP, Desager KN, Massa G, Van Gaal LF, Van Hul W.

Int J Obes (Lond). 2014 Jul;38(7):1000-4. doi: 10.1038/ijo.2013.188. Epub 2013 Oct 7.

PMID:
24097297
4.

Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.

Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A.

Am J Med Genet A. 2013 Dec;161A(12):3137-43. doi: 10.1002/ajmg.a.36149. Epub 2013 Aug 16.

PMID:
24038875
5.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

6.

Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

Ramachandrappa S, Raimondo A, Cali AM, Keogh JM, Henning E, Saeed S, Thompson A, Garg S, Bochukova EG, Brage S, Trowse V, Wheeler E, Sullivan AE, Dattani M, Clayton PE, Datta V, Bruning JB, Wareham NJ, O'Rahilly S, Peet DJ, Barroso I, Whitelaw ML, Farooqi IS.

J Clin Invest. 2013 Jul;123(7):3042-50. doi: 10.1172/JCI68016. Epub 2013 Jun 17. Erratum in: J Clin Invest. 2013 Aug 1;123(8):3635. Datta, Vippan [corrected to Datta, Vipan].

7.

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.

Montagne L, Raimondo A, Delobel B, Duban-Bedu B, Noblet FS, Dechaume A, Bersten DC, Meyre D, Whitelaw ML, Froguel P, Bonnefond A.

Obesity (Silver Spring). 2014 Dec;22(12):2621-4. doi: 10.1002/oby.20886. Epub 2014 Sep 19.

8.

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP.

Eur J Med Genet. 2006 Jul-Aug;49(4):298-305. Epub 2006 Jan 4.

PMID:
16829351
9.

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.

Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M.

J Med Genet. 2002 Aug;39(8):594-6. No abstract available. Erratum in: J Med Genet. 2004 Apr;41(4):320.

10.

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

Stanikova D, Buzga M, Krumpolec P, Skopkova M, Surova M, Ukropcova B, Ticha L, Petrasova M, Gabcova D, Huckova M, Piskorova L, Bozensky J, Mokan M, Ukropec J, Zavacka I, Klimes I, Stanik J, Gasperikova D.

PLoS One. 2017 May 4;12(5):e0177222. doi: 10.1371/journal.pone.0177222. eCollection 2017.

11.

Studies of the SIM1 gene in relation to human obesity and obesity-related traits.

Hung CC, Luan J, Sims M, Keogh JM, Hall C, Wareham NJ, O'Rahilly S, Farooqi IS.

Int J Obes (Lond). 2007 Mar;31(3):429-34. Epub 2006 Aug 22.

PMID:
16924270
12.

Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity.

Miller JL, Couch JA, Leonard CM, Schwenk K, Towler SD, Shuster J, Goldstone AP, He G, Driscoll DJ, Liu Y.

Genet Med. 2007 Aug;9(8):536-43.

PMID:
17700392
13.

Functional characterization of SIM1-associated enhancers.

Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N.

Hum Mol Genet. 2014 Apr 1;23(7):1700-8. doi: 10.1093/hmg/ddt559. Epub 2013 Nov 7.

14.

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O.

Eur J Hum Genet. 2008 Dec;16(12):1443-9. doi: 10.1038/ejhg.2008.119. Epub 2008 Jul 23.

15.

Replication and extension of association between common genetic variants in SIM1 and human adiposity.

Swarbrick MM, Evans DS, Valle MI, Favre H, Wu SH, Njajou OT, Li R, Zmuda JM, Miljkovic I, Harris TB, Kwok PY, Vaisse C, Hsueh WC.

Obesity (Silver Spring). 2011 Dec;19(12):2394-2403. doi: 10.1038/oby.2011.79. Epub 2011 Apr 21.

16.

A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity.

Wang JC, Turner L, Lomax B, Eydoux P.

Am J Med Genet A. 2008 Nov 15;146A(22):2975-8. doi: 10.1002/ajmg.a.32555. No abstract available.

PMID:
18925680
17.

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.

Holder JL Jr, Butte NF, Zinn AR.

Hum Mol Genet. 2000 Jan 1;9(1):101-8.

PMID:
10587584
18.

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.

Sullivan AE, Raimondo A, Schwab TA, Bruning JB, Froguel P, Farooqi IS, Peet DJ, Whitelaw ML.

Biochem J. 2014 Aug 1;461(3):403-12. doi: 10.1042/BJ20131618.

PMID:
24814368
19.

Deletion of the MC4R gene in a 9-year-old obese boy.

Turner L, Gregory A, Twells L, Gregory D, Stavropoulos DJ.

Child Obes. 2015 Apr;11(2):219-23. doi: 10.1089/chi.2014.0128. Epub 2015 Mar 6.

PMID:
25747306
20.

Evaluation of Prader-Willi Syndrome gene MAGEL2 in severe childhood-onset obesity.

O'Neill MA, Farooqi IS, Wevrick R.

Obes Res. 2005 Oct;13(10):1841-2.

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