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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

822 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
GDF15 linked to maternal risk of nausea and vomiting during pregnancy.
Fejzo M, Rocha N, Cimino I, Lockhart SM, Petry CJ, Kay RG, Burling K, Barker P, George AL, Yasara N, Premawardhena A, Gong S, Cook E, Rimmington D, Rainbow K, Withers DJ, Cortessis V, Mullin PM, MacGibbon KW, Jin E, Kam A, Campbell A, Polasek O, Tzoneva G, Gribble FM, Yeo GSH, Lam BYH, Saudek V, Hughes IA, Ong KK, Perry JRB, Sutton Cole A, Baumgarten M, Welsh P, Sattar N, Smith GCS, Charnock-Jones DS, Coll AP, Meek CL, Mettananda S, Hayward C, Mancuso N, O'Rahilly S. Fejzo M, et al. Among authors: rocha n. Nature. 2024 Jan;625(7996):760-767. doi: 10.1038/s41586-023-06921-9. Epub 2023 Dec 13. Nature. 2024. PMID: 38092039 Free PMC article.
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.
Koprulu M, Zhao Y, Wheeler E, Dong L, Rocha N, Li C, Griffin JD, Patel S, Van de Streek M, Glastonbury CA, Stewart ID, Day FR, Luan J, Bowker N, Wittemans LBL, Kerrison ND, Cai L, Lucarelli DME, Barroso I, McCarthy MI, Scott RA, Saudek V, Small KS, Wareham NJ, Semple RK, Perry JRB, O'Rahilly S, Lotta LA, Langenberg C, Savage DB. Koprulu M, et al. Among authors: rocha n. J Clin Endocrinol Metab. 2022 Mar 24;107(4):1065-1077. doi: 10.1210/clinem/dgab877. J Clin Endocrinol Metab. 2022. PMID: 34875679 Free PMC article.
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Rocha N, et al. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813. Elife. 2017. PMID: 28414270 Free PMC article.
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK. Guran T, et al. Among authors: rocha n. J Clin Endocrinol Metab. 2009 Oct;94(10):3633-3639. doi: 10.1210/jc.2009-0551. Epub 2009 Sep 15. J Clin Endocrinol Metab. 2009. PMID: 19755480 Free PMC article.
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, Song K, Rocha N, Grundberg E, Dupuis J, Florez JC, Langenberg C, Prokopenko I, Saxena R, Sladek R, Aulchenko Y, Evans D, Waeber G, Erdmann J, Burnett MS, Sattar N, Devaney J, Willenborg C, Hingorani A, Witteman JC, Vollenweider P, Glaser B, Hengstenberg C, Ferrucci L, Melzer D, Stark K, Deanfield J, Winogradow J, Grassl M, Hall AS, Egan JM, Thompson JR, Ricketts SL, König IR, Reinhard W, Grundy S, Wichmann HE, Barter P, Mahley R, Kesaniemi YA, Rader DJ, Reilly MP, Epstein SE, Stewart AF, Van Duijn CM, Schunkert H, Burling K, Deloukas P, Pastinen T, Samani NJ, McPherson R, Davey Smith G, Frayling TM, Wareham NJ, Meigs JB, Mooser V, Spector TD; GIANT Consortium. Richards JB, et al. Among authors: rocha n. PLoS Genet. 2009 Dec;5(12):e1000768. doi: 10.1371/journal.pgen.1000768. Epub 2009 Dec 11. PLoS Genet. 2009. PMID: 20011104 Free PMC article.
Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.
Raffan E, Soos MA, Rocha N, Tuthill A, Thomsen AR, Hyden CS, Gregory JW, Hindmarsh P, Dattani M, Cochran E, Al Kaabi J, Gorden P, Barroso I, Morling N, O'Rahilly S, Semple RK. Raffan E, et al. Among authors: rocha n. Diabetologia. 2011 May;54(5):1057-65. doi: 10.1007/s00125-011-2066-z. Epub 2011 Feb 12. Diabetologia. 2011. PMID: 21318406 Free PMC article.
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.
Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK; Majewski Osteodysplastic Primordial Dwarfism Study Group. Huang-Doran I, et al. Among authors: rocha n. Diabetes. 2011 Mar;60(3):925-35. doi: 10.2337/db10-1334. Epub 2011 Jan 26. Diabetes. 2011. PMID: 21270239 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: rocha n. 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.
822 results