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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 1
1991 1
1992 1
1993 1
1994 1
1995 1
1996 6
1997 4
1999 4
2000 1
2001 2
2002 3
2003 2
2004 3
2005 5
2006 7
2007 7
2008 3
2009 7
2010 8
2011 6
2012 6
2013 10
2014 11
2015 5
2016 5
2017 7
2018 11
2019 7
2020 7
2021 11
2022 8
2023 6
2024 1

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149 results

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Page 1
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF; PBC Consortia; Canadian PBC Consortium; Chinese PBC Consortium; Italian PBC Study Group; Japan-PBC-GWAS Consortium; US PBC Consortium; UK-PBC Consortium. Cordell HJ, et al. Among authors: sandford rn. J Hepatol. 2021 Sep;75(3):572-581. doi: 10.1016/j.jhep.2021.04.055. Epub 2021 May 23. J Hepatol. 2021. PMID: 34033851 Free PMC article.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O. Olinger E, et al. Among authors: sandford r. Kidney Int. 2020 Sep;98(3):717-731. doi: 10.1016/j.kint.2020.04.038. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450155 Free article.
New Ways of Finding New Genes for Old Diseases.
Sandford RN. Sandford RN. J Am Soc Nephrol. 2019 Nov;30(11):2037-2039. doi: 10.1681/ASN.2019090940. Epub 2019 Oct 10. J Am Soc Nephrol. 2019. PMID: 31601610 Free PMC article. No abstract available.
Bacterial and metabolic phenotypes associated with inadequate response to ursodeoxycholic acid treatment in primary biliary cholangitis.
Martinez-Gili L, Pechlivanis A, McDonald JAK, Begum S, Badrock J, Dyson JK, Jones R, Hirschfield G, Ryder SD, Sandford R, Rushbrook S, Thorburn D, Taylor-Robinson SD, Crossey MME, Marchesi JR, Mells G, Holmes E, Jones D. Martinez-Gili L, et al. Among authors: sandford r. Gut Microbes. 2023 Jan-Dec;15(1):2208501. doi: 10.1080/19490976.2023.2208501. Gut Microbes. 2023. PMID: 37191344 Free PMC article.
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
Asselta R, Paraboschi EM, Gerussi A, Cordell HJ, Mells GF, Sandford RN, Jones DE, Nakamura M, Ueno K, Hitomi Y, Kawashima M, Nishida N, Tokunaga K, Nagasaki M, Tanaka A, Tang R, Li Z, Shi Y, Liu X, Xiong M, Hirschfield G, Siminovitch KA; Canadian-US PBC Consortium; Italian PBC Genetics Study Group; UK-PBC Consortium; Japan PBC-GWAS Consortium; Carbone M, Cardamone G, Duga S, Gershwin ME, Seldin MF, Invernizzi P. Asselta R, et al. Among authors: sandford rn. Gastroenterology. 2021 Jun;160(7):2483-2495.e26. doi: 10.1053/j.gastro.2021.02.061. Epub 2021 Mar 4. Gastroenterology. 2021. PMID: 33675743 Free PMC article.
Analysis of published PKD1 gene sequence variants.
Gout AM; ADPKD Gene Variant Consortium; Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus PT, Deltas C, Sandford R, Torra R, Turco AE, Jeffery S, Fontes M, Somlo S, Furu LM, Smulders YM, Mercier B, Ferec C, Burtey S, Pei Y, Kalaydjieva L, Bogdanova N, McCluskey M, Geon LJ, Wouters CH, Reiterova J, Stekrová J, San Millan JL, Aguiari G, Del Senno L. Gout AM, et al. Among authors: sandford r. Nat Genet. 2007 Apr;39(4):427-8. doi: 10.1038/ng0407-427. Nat Genet. 2007. PMID: 17392796 Review. No abstract available.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, Banos-Pinero B, Mehta S, Sandford R, Dunn C, Mathevet R, van Maldergem L, Piard J, Brischoux-Boucher E, Vitobello A, Faivre L, Bournez M, Tran-Mau F, Maystadt I, Fernández-Jaén A, Alvarez S, García-Prieto ID, Alkuraya FS, Alsaif HS, Rahbeeni Z, El-Akouri K, Al-Mureikhi M, Spillmann RC, Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, Kraatari-Tiri M, Dudding-Byth T, Richardson A, Hunt D, Hamilton L, Dyack S, Mendelsohn BA, Rodríguez N, Sánchez-Martínez R, Tenorio-Castaño J, Nevado J, Lapunzina P, Tirado P, Carminho Amaro Rodrigues MT, Quteineh L, Innes AM, Kline AD, Au PYB, Weksberg R. Choufani S, et al. Among authors: sandford r. Am J Hum Genet. 2022 Oct 6;109(10):1867-1884. doi: 10.1016/j.ajhg.2022.08.014. Epub 2022 Sep 20. Am J Hum Genet. 2022. PMID: 36130591 Free PMC article.
149 results