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

Year Number of Results
1993 1
2012 2
2013 1
2017 1
2018 2
2019 2
2021 1
2022 1
2023 3
2024 0

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13 results

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Page 1
Tatton-Brown-Rahman Syndrome.
Ostrowski PJ, Tatton-Brown K. Ostrowski PJ, et al. 2022 Jun 30. 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. 2022 Jun 30. 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: 35771960 Free Books & Documents. Review.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Josephs KS, et al. Among authors: ostrowski pj. Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8. Genome Med. 2023. PMID: 37872640 Free PMC article.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS. Josephs KS, et al. Among authors: ostrowski pj. medRxiv [Preprint]. 2023 Apr 3:2023.04.03.23287612. doi: 10.1101/2023.04.03.23287612. medRxiv. 2023. PMID: 37066275 Free PMC article. Updated. Preprint.
Fractal Analysis of Right Ventricular Trabeculae in Pulmonary Hypertension.
Dawes TJW, Cai J, Quinlan M, de Marvao A, Ostrowski PJ, Tokarczuk PF, Watson GMJ, Wharton J, Howard LSGE, Gibbs JSR, Cook SA, Wilkins MR, O'Regan DP. Dawes TJW, et al. Among authors: ostrowski pj. Radiology. 2018 Aug;288(2):386-395. doi: 10.1148/radiol.2018172821. Epub 2018 Jun 5. Radiology. 2018. PMID: 29869959 Free article.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. Ostrowski PJ, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 31721432
A role for thioredoxin-interacting protein (Txnip) in cellular creatine homeostasis.
Zervou S, Ray T, Sahgal N, Sebag-Montefiore L, Cross R, Medway DJ, Ostrowski PJ, Neubauer S, Lygate CA. Zervou S, et al. Among authors: ostrowski pj. Am J Physiol Endocrinol Metab. 2013 Jul 15;305(2):E263-70. doi: 10.1152/ajpendo.00637.2012. Epub 2013 May 28. Am J Physiol Endocrinol Metab. 2013. PMID: 23715727 Free PMC article.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K. Ostrowski PJ, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):638-643. doi: 10.1002/ajmg.c.31750. Epub 2019 Nov 12. Am J Med Genet C Semin Med Genet. 2019. PMID: 31714006
Over-expression of mitochondrial creatine kinase in the murine heart improves functional recovery and protects against injury following ischaemia-reperfusion.
Whittington HJ, Ostrowski PJ, McAndrew DJ, Cao F, Shaw A, Eykyn TR, Lake HA, Tyler J, Schneider JE, Neubauer S, Zervou S, Lygate CA. Whittington HJ, et al. Among authors: ostrowski pj. Cardiovasc Res. 2018 May 1;114(6):858-869. doi: 10.1093/cvr/cvy054. Cardiovasc Res. 2018. PMID: 29509881 Free PMC article.
13 results