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Year Number of Results
1977 2
1978 2
1981 1
1982 1
1987 1
1997 1
2001 1
2006 1
2007 1
2008 6
2009 2
2010 1
2011 7
2012 7
2013 5
2014 7
2015 6
2016 10
2017 5
2018 1
2019 5
2020 5
2021 3
2022 1
2023 3
2024 5
2025 5

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85 results

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Page 1
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
Metabolic reprogramming of the neovascular niche promotes regenerative angiogenesis in proliferative retinopathy.
Cagnone G, Pundir S, Betus C, Agnihotri T, Ren A, -Kim JS, Harvey NR, Heckel E, Chen MX, Situ A, Gaub P, Kim N, Das A, Leclerc S, Wünnemann F, Berillon L, Andelfinger G, Crespo-Garcia S, Dubrac A, Rezende FA, Clish CB, Maranda B, Rivera JC, Smith LEH, Sapieha P, Joyal JS. Cagnone G, et al. Nat Commun. 2025 Jun 25;16(1):5377. doi: 10.1038/s41467-025-60061-4. Nat Commun. 2025. PMID: 40562775 Free PMC article.
The Québec NTBC Study.
Québec NTBC Study Group; Alvarez F, Atkinson S, Bouchard M, Brunel-Guitton C, Buhas D, Bussières JF, Dubois J, Fenyves D, Goodyer P, Gosselin M, Halac U, Labbé P, Laframboise R, Maranda B, Melançon S, Merouani A, Mitchell GA, Mitchell J, Parizeault G, Pelletier L, Phan V, Turcotte JF. Québec NTBC Study Group, et al. Adv Exp Med Biol. 2017;959:187-195. doi: 10.1007/978-3-319-55780-9_17. Adv Exp Med Biol. 2017. PMID: 28755196 Review.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Orphanet J Rare Dis. 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. Orphanet J Rare Dis. 2020. PMID: 31937333 Free PMC article. Review.
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Khangura SD, et al. BMC Pediatr. 2015 Feb 13;15:7. doi: 10.1186/s12887-015-0323-x. BMC Pediatr. 2015. PMID: 25886474 Free PMC article.
PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.
Chong AL, Mejia-Garcia A, Behl S, El Haffaf Z, Chénier S, Maranda B, Désilets V, Lévesque S, Castonguay L, Mes-Masson AM, Giroux S, Rousseau F, Hamel N, Chong G, Gravel S, Foulkes WD. Chong AL, et al. Clin Genet. 2025 Dec;108(6):747-751. doi: 10.1111/cge.14784. Epub 2025 Jun 23. Clin Genet. 2025. PMID: 40546006 Free PMC article.
A case of hyperlysinemia identified by urine newborn screening.
Yeganeh M, Auray-Blais C, Maranda B, Sabovic A, DeVita RJ, Lazarus MB, Houten SM. Yeganeh M, et al. JIMD Rep. 2023 Oct 22;64(6):440-445. doi: 10.1002/jmd2.12399. eCollection 2023 Nov. JIMD Rep. 2023. PMID: 37927488 Free PMC article.
85 results