Smith AN - Search Results

1

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Smith AN, et al. Nat Genet. 2000 Sep;26(1):71-5. doi: 10.1038/79208. Nat Genet. 2000. PMID: 10973252

2

Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene.

Smith AN, Finberg KE, Wagner CA, Lifton RP, Devonald MA, Su Y, Karet FE. Smith AN, et al. J Biol Chem. 2001 Nov 9;276(45):42382-8. doi: 10.1074/jbc.M107267200. Epub 2001 Aug 8. J Biol Chem. 2001. PMID: 11495928 Free article.

3

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: smith an. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.

4

A search for type 1 diabetes susceptibility genes in families from the United Kingdom.

Mein CA, Esposito L, Dunn MG, Johnson GC, Timms AE, Goy JV, Smith AN, Sebag-Montefiore L, Merriman ME, Wilson AJ, Pritchard LE, Cucca F, Barnett AH, Bain SC, Todd JA. Mein CA, et al. Among authors: smith an. Nat Genet. 1998 Jul;19(3):297-300. doi: 10.1038/991. Nat Genet. 1998. PMID: 9662409

5

Haplotype tagging for the identification of common disease genes.

Johnson GC, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G, Ueda H, Cordell HJ, Eaves IA, Dudbridge F, Twells RC, Payne F, Hughes W, Nutland S, Stevens H, Carr P, Tuomilehto-Wolf E, Tuomilehto J, Gough SC, Clayton DG, Todd JA. Johnson GC, et al. Among authors: smith an. Nat Genet. 2001 Oct;29(2):233-7. doi: 10.1038/ng1001-233. Nat Genet. 2001. PMID: 11586306

6

Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11.

Nejentsev S, Smink LJ, Smyth D, Bailey R, Lowe CE, Payne F, Masters J, Godfrey L, Lam A, Burren O, Stevens H, Nutland S, Walker NM, Smith A, Twells R, Barratt BJ, Wright C, French L, Chen Y, Deloukas P, Rogers J, Dunham I, Todd JA. Nejentsev S, et al. BMC Genet. 2007 May 17;8:24. doi: 10.1186/1471-2156-8-24. BMC Genet. 2007. PMID: 17509149 Free PMC article.

7

Evaluation of single nucleotide polymorphism typing with invader on PCR amplicons and its automation.

Mein CA, Barratt BJ, Dunn MG, Siegmund T, Smith AN, Esposito L, Nutland S, Stevens HE, Wilson AJ, Phillips MS, Jarvis N, Law S, de Arruda M, Todd JA. Mein CA, et al. Among authors: smith an. Genome Res. 2000 Mar;10(3):330-43. doi: 10.1101/gr.10.3.330. Genome Res. 2000. PMID: 10720574 Free PMC article.

8

Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease.

Jamieson SE, White JK, Howson JM, Pask R, Smith AN, Brayne C, Evans JG, Xuereb J, Cairns NJ, Rubinsztein DC, Blackwell JM. Jamieson SE, et al. Among authors: smith an. Neurosci Lett. 2005 Feb 10;374(2):124-8. doi: 10.1016/j.neulet.2004.10.038. Neurosci Lett. 2005. PMID: 15644277

9

Investigating the utility of combining phi29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray genotyping.

Pask R, Rance HE, Barratt BJ, Nutland S, Smyth DJ, Sebastian M, Twells RC, Smith A, Lam AC, Smink LJ, Walker NM, Todd JA. Pask R, et al. BMC Biotechnol. 2004 Jul 27;4:15. doi: 10.1186/1472-6750-4-15. BMC Biotechnol. 2004. PMID: 15279678 Free PMC article.

10

Plasma Aβ₄₂/Aβ₄₀ is sensitive to early cerebral amyloid accumulation and predicts risk of cognitive decline across the Alzheimer's disease spectrum.

Trelle AN, Young CB, Vossler H, Ramos Benitez J, Cody KA, Mendiola JH, Swarovski MS, Guen YL, Feinstein I, Butler RR 3rd, Channappa D, Romero A, Park J, Shahid-Besanti M, Corso NK, Chau K, Smith AN, Skylar-Scott I, Yutsis MV, Fredericks CA, Tian L, Younes K, Kerchner GA, Deutsch GK, Davidzon GA, Sha SJ, Henderson VW, Longo FM, Greicius MD, Wyss-Coray T, Andreasson KI, Poston KL, Wagner AD, Mormino EC, Wilson EN. Trelle AN, et al. Among authors: smith an. Alzheimers Dement. 2024 Dec 23. doi: 10.1002/alz.14442. Online ahead of print. Alzheimers Dement. 2024. PMID: 39713875

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