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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: care m. 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.
Structured assessment and followup for patients with hereditary kidney tumour syndromes.
Lattouf JB, Pautler SE, Reaume MN, Kim RH, Care M, Green J, So A, Violette PD, Saliba I, Major P, Silver S, Leicht R, Basiuk J, Tanguay S, Jewett MA, Drachenberg D; Kidney Cancer Research Network of Canada. Lattouf JB, et al. Among authors: care m. Can Urol Assoc J. 2016 Jul-Aug;10(7-8):E214-E222. doi: 10.5489/cuaj.3798. Epub 2016 Jul 12. Can Urol Assoc J. 2016. PMID: 28255411 Free PMC article.
Application of Hereditary Renal Cell Carcinoma Risk Criteria to a Large Prospective Database.
Kushnir I, Kirk L, Mallick R, Kim RH, Graham GE, Breau RH, Lattouf JB, Violette PD, Pautler SE, Care M, Kapoor A, Jewett MAS, Wood L, Tanguay S, Heng DYC, Basappa NS, So A, Pouliot F, Reaume NM. Kushnir I, et al. Among authors: care m. Clin Oncol (R Coll Radiol). 2020 Jan;32(1):e10-e15. doi: 10.1016/j.clon.2019.07.010. Epub 2019 Aug 1. Clin Oncol (R Coll Radiol). 2020. PMID: 31378448
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
Saltzman AJ, Mancini-DiNardo D, Li C, Chung WK, Ho CY, Hurst S, Wynn J, Care M, Hamilton RM, Seidman GW, Gorham J, McDonough B, Sparks E, Seidman JG, Seidman CE, Rehm HL. Saltzman AJ, et al. Among authors: care m. Circ Res. 2010 May 14;106(9):1549-52. doi: 10.1161/CIRCRESAHA.109.216291. Epub 2010 Apr 8. Circ Res. 2010. PMID: 20378854 Free PMC article.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: care me. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.
Management of kidney cancer: canadian kidney cancer forum consensus update 2011.
Jewett M, Finelli A, Kollmannsberger C, Wood L, Legere L, Basiuk J, Canil C, Heng D, Reaume N, Tanguay S, Atkins M, Bjarnason G, Dancey J, Evans M, Fleshner N, Haider M, Kapoor A, Uzzo R, Maskens D, Soulieres D, Yousef G, Basappa N, Bendali N, Black P, Blais N, Cagiannos I, Care M, Chow R, Chung H, Czaykowski P, Derosa D, Durrant K, Ellard S, Farquharson G, Filion-Brulotte C, Gingerich J, Godbout L, Grant R, Hamilton W, Kassouf W, Kurban G, Lane K, Lattouf J, Lau D, Leveridge M, McCarthy J, Moore R, North S, O'brien P, Pituskin E, Racine P, Rendon R, So A, Sridhar S, Stubbs K, Su Z, Taylor L, Udall T, Venner P, Vogel W, Yap S, Yau P, Cooper M, Giroux N, Miron D, Mosher D, Ross K, Willacy J. Jewett M, et al. Among authors: care m. Can Urol Assoc J. 2012 Feb;6(1):16-22. doi: 10.5489/cuaj.11273. Can Urol Assoc J. 2012. PMID: 22396361 Free PMC article. No abstract available.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
126 results