9398858 17224546 31589614 9282831 16601883 31240165 31980526 21422137 25870212 29555771 9536088 17531949[uid] - Search Results

Year	Number of Results
1997	2
1998	1
2006	1
2007	2
2011	1
2015	1
2018	1
2019	2
2020	1
2024	0

1

Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.

Dolphin CT, Janmohamed A, Smith RL, Shephard EA, Phillips IR. Dolphin CT, et al. Nat Genet. 1997 Dec;17(4):491-4. doi: 10.1038/ng1297-491. Nat Genet. 1997. PMID: 9398858

2

Trimethylaminuria (fish-odor syndrome): a case report.

Arseculeratne G, Wong AK, Goudie DR, Ferguson J. Arseculeratne G, et al. Arch Dermatol. 2007 Jan;143(1):81-4. doi: 10.1001/archderm.143.1.81. Arch Dermatol. 2007. PMID: 17224546

3

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM. Capalbo A, et al. PLoS Genet. 2019 Oct 7;15(10):e1008409. doi: 10.1371/journal.pgen.1008409. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31589614 Free PMC article.

4

Human flavin-containing monooxygenase form 3: cDNA expression of the enzymes containing amino acid substitutions observed in individuals with trimethylaminuria.

Cashman JR, Bi YA, Lin J, Youil R, Knight M, Forrest S, Treacy E. Cashman JR, et al. Chem Res Toxicol. 1997 Aug;10(8):837-41. doi: 10.1021/tx9700533. Chem Res Toxicol. 1997. PMID: 9282831

5

Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children.

Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA. Chalmers RA, et al. J Inherit Metab Dis. 2006 Feb;29(1):162-72. doi: 10.1007/s10545-006-0158-6. J Inherit Metab Dis. 2006. PMID: 16601883 Clinical Trial.

6

The genetic and biochemical basis of trimethylaminuria in an Irish cohort.

Doyle S, O'Byrne JJ, Nesbitt M, Murphy DN, Abidin Z, Byrne N, Pastores G, Kirk R, Treacy EP. Doyle S, et al. JIMD Rep. 2019 Mar 25;47(1):35-40. doi: 10.1002/jmd2.12028. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240165 Free PMC article.

7

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Hou YC, Yu HC, Martin R, Cirulli ET, Schenker-Ahmed NM, Hicks M, Cohen IV, Jönsson TJ, Heister R, Napier L, Swisher CL, Dominguez S, Tang H, Li W, Perkins BA, Barea J, Rybak C, Smith E, Duchicela K, Doney M, Brar P, Hernandez N, Kirkness EF, Kahn AM, Venter JC, Karow DS, Caskey CT. Hou YC, et al. Proc Natl Acad Sci U S A. 2020 Feb 11;117(6):3053-3062. doi: 10.1073/pnas.1909378117. Epub 2020 Jan 24. Proc Natl Acad Sci U S A. 2020. PMID: 31980526 Free PMC article.

8

Fish odour syndrome.

Li M, Al-Sarraf A, Sinclair G, Frohlich J. Li M, et al. CMAJ. 2011 May 17;183(8):929-31. doi: 10.1503/cmaj.100642. Epub 2011 Mar 21. CMAJ. 2011. PMID: 21422137 Free PMC article. No abstract available.

9

Fish Malodour syndrome in a child.

Oliveira A, Faria A, Oliva M. Oliveira A, et al. BMJ Case Rep. 2015 Apr 13;2015:bcr2014207002. doi: 10.1136/bcr-2014-207002. BMJ Case Rep. 2015. PMID: 25870212 Free PMC article.

10

Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.

Perkins BA, Caskey CT, Brar P, Dec E, Karow DS, Kahn AM, Hou YC, Shah N, Boeldt D, Coughlin E, Hands G, Lavrenko V, Yu J, Procko A, Appis J, Dale AM, Guo L, Jönsson TJ, Wittmann BM, Bartha I, Ramakrishnan S, Bernal A, Brewer JB, Brewerton S, Biggs WH, Turpaz Y, Venter JC. Perkins BA, et al. Proc Natl Acad Sci U S A. 2018 Apr 3;115(14):3686-3691. doi: 10.1073/pnas.1706096114. Epub 2018 Mar 19. Proc Natl Acad Sci U S A. 2018. PMID: 29555771 Free PMC article.

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