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Year Number of Results
1993 2
2003 1
2013 2
2014 1
2017 1
2020 1
2021 5
2022 1
2023 3
2024 0

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11 results

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Page 1
Urea Cycle Disorders Overview.
Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Ah Mew N, et al. Among authors: simpson kl. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Apr 29 [updated 2017 Jun 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301396 Free Books & Documents. Review.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Among authors: simpson k. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Ornithine Transcarbamylase Deficiency.
Lichter-Konecki U, Caldovic L, Morizono H, Simpson K, Ah Mew N, MacLeod E. Lichter-Konecki U, et al. Among authors: simpson k. 2013 Aug 29 [updated 2022 May 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Aug 29 [updated 2022 May 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24006547 Free Books & Documents. Review.
PAK1-dependent mechanotransduction enables myofibroblast nuclear adaptation and chromatin organization during fibrosis.
Jokl E, Mullan AF, Simpson K, Birchall L, Pearmain L, Martin K, Pritchett J, Raza S, Shah R, Hodson NW, Williams CJ, Camacho E, Zeef L, Donaldson I, Athwal VS, Hanley NA, Piper Hanley K. Jokl E, et al. Among authors: simpson k. Cell Rep. 2023 Nov 28;42(11):113414. doi: 10.1016/j.celrep.2023.113414. Epub 2023 Nov 14. Cell Rep. 2023. PMID: 37967011 Free article.
Circadian Disruption Primes Myofibroblasts for Accelerated Activation as a Mechanism Underpinning Fibrotic Progression in Non-Alcoholic Fatty Liver Disease.
Jokl E, Llewellyn J, Simpson K, Adegboye O, Pritchett J, Zeef L, Donaldson I, Athwal VS, Purssell H, Street O, Bennett L, Guha IN, Hanley NA, Meng QJ, Piper Hanley K; ID-LIVER Consortium. Jokl E, et al. Among authors: simpson k. Cells. 2023 Jun 8;12(12):1582. doi: 10.3390/cells12121582. Cells. 2023. PMID: 37371052 Free PMC article.
Unexplained oral and extremity ulcerations in an infant.
Russomanno K, DiLorenzo A, Simpson K, Berger S, Habeshian K. Russomanno K, et al. Among authors: simpson k. JAAD Case Rep. 2021 Jan 19;9:97-99. doi: 10.1016/j.jdcr.2021.01.010. eCollection 2021 Mar. JAAD Case Rep. 2021. PMID: 33665289 Free PMC article. No abstract available.
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders.
Murali CN, Barber JR, McCarter R, Zhang A, Gallant N, Simpson K, Dorrani N, Wilkening GN, Hays RD, Lichter-Konecki U; Members of the Urea Cycle Disorders Consortium; Burrage LC, Nagamani SCS. Murali CN, et al. Among authors: simpson k. Mol Genet Metab. 2023 Nov;140(3):107696. doi: 10.1016/j.ymgme.2023.107696. Epub 2023 Sep 8. Mol Genet Metab. 2023. PMID: 37690181 Review.
Substrate for the Myocardial Inflammation-Heart Failure Hypothesis Identified Using Novel USPIO Methodology.
Lagan J, Naish JH, Simpson K, Zi M, Cartwright EJ, Foden P, Morris J, Clark D, Birchall L, Caldwell J, Trafford A, Fortune C, Cullen M, Chaudhuri N, Fildes J, Sarma J, Schelbert EB, Schmitt M, Piper Hanley K, Miller CA. Lagan J, et al. Among authors: simpson k. JACC Cardiovasc Imaging. 2021 Feb;14(2):365-376. doi: 10.1016/j.jcmg.2020.02.001. Epub 2020 Apr 15. JACC Cardiovasc Imaging. 2021. PMID: 32305466 Free PMC article.
11 results