Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

80 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne F, Lim K, Girousse A, Brown RJ, Kory N, Robbins A, Xue Y, Sleigh A, Cochran E, Adams C, Dev Borman A, Russel-Jones D, Gorden P, Semple RK, Saudek V, O'Rahilly S, Walther TC, Barroso I, Savage DB. Payne F, et al. Among authors: saudek v. Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8901-6. doi: 10.1073/pnas.1408523111. Epub 2014 Jun 2. Proc Natl Acad Sci U S A. 2014. PMID: 24889630 Free PMC article.
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magré J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB; LD Screening Consortium. Rubio-Cabezas O, et al. Among authors: saudek v. EMBO Mol Med. 2009 Aug;1(5):280-7. doi: 10.1002/emmm.200900037. EMBO Mol Med. 2009. PMID: 20049731 Free PMC article.
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R. Payne F, et al. Among authors: saudek v. J Clin Invest. 2014 Sep;124(9):4028-38. doi: 10.1172/JCI73264. Epub 2014 Aug 8. J Clin Invest. 2014. PMID: 25105364 Free PMC article.
Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.
Kozusko K, Tsang V, Bottomley W, Cho YH, Gandotra S, Mimmack ML, Lim K, Isaac I, Patel S, Saudek V, O'Rahilly S, Srinivasan S, Greenfield JR, Barroso I, Campbell LV, Savage DB. Kozusko K, et al. Among authors: saudek v. Diabetes. 2015 Jan;64(1):299-310. doi: 10.2337/db14-0104. Epub 2014 Aug 11. Diabetes. 2015. PMID: 25114292 Free PMC article.
FTO is necessary for the induction of leptin resistance by high-fat feeding.
Tung YC, Gulati P, Liu CH, Rimmington D, Dennis R, Ma M, Saudek V, O'Rahilly S, Coll AP, Yeo GS. Tung YC, et al. Among authors: saudek v. Mol Metab. 2015 Feb 7;4(4):287-98. doi: 10.1016/j.molmet.2015.01.011. eCollection 2015 Apr. Mol Metab. 2015. PMID: 25830092 Free PMC article.
80 results