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Results: 1 to 20 of 23

1.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members.

Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871.

PMID:
25225788
[PubMed - in process]
Free PMC Article
2.

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1.

Pearce LR, Joe R, Doche ME, Su HW, Keogh JM, Henning E, Argetsinger LS, Bochukova EG, Cline JM, Garg S, Saeed S, Shoelson S, O'Rahilly S, Barroso I, Rui L, Farooqi IS, Carter-Su C.

Endocrinology. 2014 Sep;155(9):3219-26. doi: 10.1210/en.2014-1264. Epub 2014 Jun 27.

PMID:
24971614
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.

Pearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli JP, Hendricks A, Keogh JM, Henning E, Doree D, Jeter-Jones S, Garg S, Bochukova EG, Bounds R, Ashford S, Gayton E, Hindmarsh PC, Shield JP, Crowne E, Barford D, Wareham NJ; UK10K consortium, O'Rahilly S, Murphy MP, Powell DR, Barroso I, Farooqi IS.

Cell. 2013 Nov 7;155(4):765-77.

PMID:
24209692
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Küsters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ.

Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4.

PMID:
23913004
[PubMed - indexed for MEDLINE]
5.

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.

Frank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S, Farooqi IS.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):191-4. doi: 10.1016/j.ymgme.2013.04.005. Epub 2013 Apr 17.

PMID:
23800642
[PubMed - indexed for MEDLINE]
Free PMC Article
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 1;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].

PMID:
23778139
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.

PMID:
23768512
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

Wheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H, Loos RJ, Wareham NJ, O'Rahilly S, Hurles ME, Barroso I, Farooqi IS.

Nat Genet. 2013 May;45(5):513-7. doi: 10.1038/ng.2607. Epub 2013 Apr 7.

PMID:
23563609
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD, Romero R, Fournier E, Reus VI, Lowe TL, Farooqi IS; Tourette Syndrome Association International Consortium for Genetics, Mathews CA, McGrath LM, Yu D, Cook E, Wang K, Scharf JM, Pauls DL, Freimer NB, Plagnol V, Ruiz-Linares A.

PLoS One. 2013;8(3):e59061. doi: 10.1371/journal.pone.0059061. Epub 2013 Mar 22.

PMID:
23533600
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Human SH2B1 mutations are associated with maladaptive behaviors and obesity.

Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S, Dale A, Cheetham T, Barroso I, Argetsinger LS, O'Rahilly S, Rui L, Carter-Su C, Farooqi IS.

J Clin Invest. 2012 Dec 3;122(12):4732-6. doi: 10.1172/JCI62696. Epub 2012 Nov 19. Erratum in: J Clin Invest. 2013 Jan 2;123(1):526. Saeed, Sadia [added].

PMID:
23160192
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A mutation in the thyroid hormone receptor alpha gene.

Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J, Gevers E, Sarri M, Downes K, Offiah A, Albanese A, Halsall D, Schwabe JW, Bain M, Lindley K, Muntoni F, Vargha-Khadem F, Dattani M, Farooqi IS, Gurnell M, Chatterjee K.

N Engl J Med. 2012 Jan 19;366(3):243-9. doi: 10.1056/NEJMoa1110296. Epub 2011 Dec 14. Erratum in: N Engl J Med. 2012 Oct 11;367(15):1474. Khadem, Faraneh Vargha [corrected to Vargha-Khadem, Faraneh].

PMID:
22168587
[PubMed - indexed for MEDLINE]
Free Article
12.

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS.

Nature. 2010 Feb 4;463(7281):671-5. doi: 10.1038/nature08727.

PMID:
20130649
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Large, rare chromosomal deletions associated with severe early-onset obesity.

Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS.

Nature. 2010 Feb 4;463(7281):666-70. doi: 10.1038/nature08689. Epub 2009 Dec 6.

PMID:
19966786
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

Bochukova EG, Soneji S, Wall SA, Wilkie AO.

J Med Genet. 2010 Dec;47(12):803-8. doi: 10.1136/jmg.2009.069617. Epub 2009 Sep 15.

PMID:
19755431
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, Wilkie AO.

Hum Mutat. 2009 Feb;30(2):204-11. doi: 10.1002/humu.20825.

PMID:
18726952
[PubMed - indexed for MEDLINE]
16.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'rourke AW, Williams LJ, Seller A, Lester T.

Am J Med Genet A. 2007 Aug 15;143A(16):1941-9. Review.

PMID:
17621648
[PubMed - indexed for MEDLINE]
17.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T.

Am J Med Genet A. 2006 Dec 1;140(23):2631-9. Review.

PMID:
16838304
[PubMed - indexed for MEDLINE]
18.

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Merrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AO, Maxson RE Jr.

Hum Mol Genet. 2006 Apr 15;15(8):1319-28. Epub 2006 Mar 15.

PMID:
16540516
[PubMed - indexed for MEDLINE]
Free Article
19.

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO.

Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. Epub 2004 May 27.

PMID:
15166289
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genomic studies of gene expression: regulation of the Wilson disease gene.

Bochukova EG, Jefferson A, Francis MJ, Monaco AP.

Genomics. 2003 Jun;81(6):531-42.

PMID:
12782122
[PubMed - indexed for MEDLINE]
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