Publications

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Displaying 1 through 31 of 31 publications.

Mansfield C, Boeri M, Coulter J, Baranowski E, Sparks S, An Haack K, Hamed A. The value of knowing: preferences for genetic testing to diagnose rare muscle diseases. Orphanet J Rare Dis. 2024 Apr 22;19(1):173. doi: 10.1186/s13023-024-03160-7

Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH. Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. Orphanet J Rare Dis. 2024 Apr 12;19(1):148. doi: 10.1186/s13023-024-03147-4

Yee KS, Lewis S, Evans E, Romano (DeMuro) C, Alexanderian D. Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II. Orphanet J Rare Dis. 2024 Mar 10;19(1):100. doi: 10.1186/s13023-024-03034-y

Wang Z, Whipp AM, Heinonen-Guzejev M, Foraster M, Julvez J, Kaprio J. The association between urban land use and depressive symptoms in young adulthood: a FinnTwin12 cohort study. J Expo Sci Environ Epidemiol. 2023 Dec 11. doi: 10.1038/s41370-023-00619-w

Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG. A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. Orphanet J Rare Dis. 2023 Nov 2;18(1):343. doi: 10.1186/s13023-023-02957-2

Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GA, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clement K, Haqq AM. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4

Kuhnen P, Wabitsch M, von Schnurbein J, Chirila C, Mallya UG, Callahan P, Gnanasakthy A, Poitou C, Krabusch PM, Stewart M, Clement K. Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency. Orphanet J Rare Dis. 2022 Feb 5;17(1):38. doi: 10.1186/s13023-022-02186-z

Foreman PK, Margulis AV, Alexander K, Shediac R, Calingaert B, Harding A, Pladevall-Vila M, Landis S. Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. Orphanet J Rare Dis. 2021 Jun 3;16(1):253. doi: 10.1186/s13023-021-01874-6

Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien Ansquer V, Germain DP, Lidove O. Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. doi: 10.1186/s13023-019-1254-7

Paquin RS, Fischer R, Mansfield C, Mange B, Beaverson K, Ganot A, Martin AS, Morris C, Rensch C, Ricotti V, Russo LJ, Sadosky A, Smith EC, Peay H. Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients. Orphanet J Rare Dis. 2019 May 9;14(1):102. doi: 10.1186/s13023-019-1069-6

Harrington M, Whalley D, Twiss J, Rushton R, Martin S, Huynh L, Yang H. Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers. Orphanet J Rare Dis. 2019 Apr 29;14(1):89. doi: 10.1186/s13023-019-1060-2

Mazurek M, Huisman MV, Rothman KJ, Paquette M, Teutsch C, Diener HC, Dubner SJ, Halperin JL, Ma CS, Zint K, Elsaesser A, Lu S, Lip GYH, GLORIA-AF Investigators. Regional differences in antithrombotic treatment for atrial fibrillation: insights from the GLORIA-AF phase II registry. Thromb Haemost. 2017 Dec;117(12):2376-88. doi: 10.1160/TH17-08-0555

Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z

Danysh HE, Mitchell LE, Zhang K, Scheurer ME, Lupo PJ. Differences in environmental exposure assignment due to residential mobility among children with a central nervous system tumor: Texas, 1995-2009. J Expo Sci Environ Epidemiol. 2017 Jan;27(1):41-6. doi: 10.1038/jes.2015.63

Cole-Hunter T, Weichenthal S, Kubesch N, Foraster M, Carrasco-Turigas G, Bouso L, Martinez D, Westerdahl D, de Nazelle A, Nieuwenhuijsen M. Impact of traffic-related air pollution on acute changes in cardiac autonomic modulation during rest and physical activity: a cross-over study. J Expo Sci Environ Epidemiol. 2016 Mar;26(2):133-40. doi: 10.1038/jes.2015.66

Aguilera I, Foraster M, Basagana X, Corradi E, Deltell A, Morelli X, Phuleria HC, Ragettli MS, Rivera M, Thomasson A, Slama R, Kunzli N. Application of land use regression modelling to assess the spatial distribution of road traffic noise in three European cities. J Expo Sci Environ Epidemiol. 2015 Jan;25(1):97-105. doi: 10.1038/jes.2014.61

Wolowacz SE, Roskell NS, Plumb JM, Clemens A, Noack H, Robinson PA, Dolan G, Brenkel IJ. Economic evaluation of dabigatran etexilate for the preventionof venous thromboembolism in patients aged over 75 years or with moderate renal impairment undergoing total knee or hip replacement. Thromb Haemost. 2010 Feb 1;103(2):360-71.

Wolowacz SE, Roskell NS, Plumb JM, Caprini JA, Eriksson BI. Efficacy and safety of dabigatran etexilate for the prevention of venous thromboembolism following total hip or knee arthroplasty. A meta-analysis. Thromb Haemost. 2009 Jan 1;101(1):77-85.

Merrill RM, Madanat H, Kelley AT, Layton JB. Nurse and physician patient counseling about tobacco smoking in Jordan. Promot Educ. 2008 Sep;15(3):9-14. doi: 10.1177/1025382308095649

Shadoan MK, Kavanagh K, Zhang L, Anthony MS, Wagner JD. Addition of medroxyprogesterone acetate to conjugated equine estrogens results in insulin resistance in adipose tissue. Metabolism. 2007 Jun;56(6):830-7.

Eriksson-Berg M, Deguchi H, Hawe E, Scanavini D, Orth-Gomér K, Schenck-Gustafsson K, Humphries SE, Silveira A, Hamsten A. Influence of factor VII gene polymorphisms and environmental factors on plasma coagulation factor VII concentrations in middle-aged women with and without manifest coronary heart disease. Thromb Haemost. 2005;93(2):351-8.

Mannila MN, Silveira A, Hawe E, Eriksson P, Aillaud MF, Juhan-Vague I, Yudkin J, Margaglione M, di Minno G, Mussoni L, Tremoli E, Humphries S, Hamsten A, HIFMECH Study Group. Plasma fibrinogen concentration predicts the risk of myocardial infarction differently in various parts of Europe: effects of beta-fibrinogen genotype and environmental factors. The HIFMECH Study. Thromb Haemost. 2004 Dec;92(6):1240-9.

Yudkin JS, Juhan-Vague I, Hawe E, Humphries SE, di Minno G, Margaglione M, Tremoli E, Kooistra T, Morange PE, Lundman P, Mohamed-Ali V, Hamsten A, HIFMECH Study Group. HIFMECH Study Group. Low-grade inflammation may play a role in the etiology of the metabolic syndrome in patients with coronary heart disease: the HIFMECH study. Metabolism. 2004 Jul;53(7):852-7.

Konstantoulas C, Hawe E, Saut N, Yudkin JS, di Minno G, Margaglione M, Hamsten A, Humphries SE, Juhan-Vague I, Ireland H, HIFMECH Study Group. Common variants in the thrombomodulin gene as a risk for myocardial infarction in the north of Europe (HIFMECH Study). Thromb Haemost. 2004 Mar;91(3):628-30.

Kelberman D, Hawe E, Luong LA, Mohamed-Ali V, Lundman P, Tornvall P, Aillaud MF, Juhan-Vague I, Yudkin JS, Margaglione M, di Minno G, Tremoli E, Humphries SE, HIFMECH Study Group. HIFMECH study group. Effect of Interleukin-6 promoter polymorphisms in survivors of myocardial infarction and matched controls in the North and South of Europe. The HIFMECH Study. Thromb Haemost. 2004;92(5):1122-8.

Shadoan MK, Anthony MS, Rankin SE, Clarkson TB, Wagner JD. Effects of tibolone and conjugated equine estrogens with or without medroxyprogesterone acetate on body composition and fasting carbohydrate measures in surgically postmenopausal monkeys. Metabolism. 2003 Sep;52(9):1085-91.

Cotton JM, Hong Y, Hawe E, Mathur A, Humphries SE, Brown AS, Martin JF, Erusalimsky JD. Rise of circulating thrombopoietin following cardiothoracic surgery is potentiated in patients with coronary atherosclerosis: correlation with a preceding increase in levels of interleukin-6. Thromb Haemost. 2003;89(3):538-43.

Mikkola TS, Anthony MS, Clarkson TB, St. Clair RW. Serum cholesterol efflux potential in postmenopausal monkeys treated with tibolone or conjugated estrogens. Metabolism. 2002 Apr;51(4):523-30.

Dekou V, Gudnason V, Hawe E, Miller GJ, Stansbie D, Humphries SE. Gene-environment and gene-gene interaction in the determination of plasma homocysteine levels in healthy middle-aged men. Thromb Haemost. 2001;85(1):67-74.

Wagner JD, Cefalu WT, Anthony MS, Litwak KN, Zhang L, Clarkson TB. Dietary soy protein and estrogen replacement therapy improve cardiovascular risk factors and decrease aortic cholesteryl ester content in ovariectomized cynomolgus monkeys. Metabolism. 1997 Jun;46(6):698-705.

Wagner JD, Martino MA, Jayo MJ, Anthony MS, Clarkson TB, Cefalu WT. The effects of hormone replacement therapy on carbohydrate metabolism and cardiovascular risk factors in surgically postmenopausal cynomolgus monkeys. Metabolism. 1996 Oct;45(10):1254-62.