日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community

提高全科医疗中家族性高胆固醇血症的检出率:支持社区基因级联检测的模式

Pang, Jing; Barnett, Wendy; Purdie, Jane; Della-Vedova, Jennifer A; Woodward, Annmarie; Bell, Damon A; Hooper, Amanda J; Chan, Dick C; Martin, Andrew C; Nowak, Kristen J; Garton-Smith, Jacquie; Watts, Gerald F

Diverse Obesity Trajectories in a Family Including Identical Twins with a Pathogenic <italic>MC4R</italic> Variant

一个家族中肥胖轨迹的多样性,包括携带致病性<italic>MC4R</italic>变异的同卵双胞胎

Lim, Jane Jia Xin; Hooper, Amanda J; Khoo, Joan; Loh, Wann Jia

PUTRA-CV study protocol: a multicentre observational study of ethnic-specific genetic variants and dietary patterns in relation to lipoprotein(a) levels and their association with coronary artery disease severity in Malaysian adults

PUTRA-CV 研究方案:一项多中心观察性研究,旨在探讨马来西亚成年人中特定种族遗传变异和饮食模式与脂蛋白(a)水平及其与冠状动脉疾病严重程度的关系。

Pannirselvam, Sangitha; C Thambiah, Subashini; Appannah, Geeta; Ling, King Hwa; Samsudin, Intan Nureslyna; Hooper, Amanda J; Yusoff, Mohd Rahal; Zakaria, Ahmad Firdaus; Razali, Rafezah; Kiong, Glendon Lau Seng; Zahari Sham, Siti Yazmin; Lai, Yin Ye; Abdul Rahman, Thuhairah Hasrah; Zainal Abidin, Imran

Trends in hypertension management and control among older adults in Germany 2008-2011 to 2022-2023

2008-2011年至2022-2023年德国老年人高血压管理和控制趋势

Chora, Joana R; Iacocca, Michael A; Tichý, Lukáš; Wand, Hannah; Kurtz, C Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E; Hooper, Amanda J; Trinder, Mark; Brunham, Liam R; Costa Pereira, Alexandre; Jannes, Cinthia E; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; Kramarek, Michal; Leigh, Sarah E; Carrié, Alain; Sijbrands, Eric J; Hegele, Robert A; Freiberger, Tomáš; Knowles, Joshua W; Bourbon, Mafalda; Sarganas, G; Kuhnert, R; Grams, D; Gaertner, B; Fuchs, J; Thuermann, P; Gaertner, B; Fuchs, J; Kuhnert, R; Neuhauser, H; Rodriguez-Loureiro, L; Halonen, M; Vainqueur, C; Pätsi, S; de Rooij, S R; Empana, J-P; Lequy, E; Sebert, S; Heude, B; Jacquemin, B; Armocida, B; Tolonen, H; Bueno, H; Palmieri, L; Peltonen, M; Formenti, B; Damiano, C; Bertossi, T; Finotto, E; Onder, G; Neuhauser, H; Sarganas, G; Du, Y; Büschges, J; Bueno, H; Büschges, J; Sarganas, G; Gaertner, B; Grams, D; Fuchs, J; Neuhauser, H

Clinical and imaging features of women with polygenic partial lipodystrophy: a case series.

多基因部分脂肪营养不良女性的临床和影像学特征:病例系列

Loh Wann Jia, Yaligar Jadegoud, Hooper Amanda J, Sadananthan Suresh Anand, Kway Yeshe, Lim Su Chi, Watts Gerald F, Velan Sambasivam Sendhil, Leow Melvin Khee Shing, Khoo Joan

Apolipoprotein- ε 4 is associated with higher fecundity in a natural fertility population

载脂蛋白-ε4与自然生育人群的较高生育力相关

Benjamin C Trumble, Mia Charifson, Tom Kraft, Angela R Garcia, Daniel K Cummings, Paul Hooper, Amanda J Lea, Daniel Eid Rodriguez, Stephanie V Koebele, Kenneth Buetow, Bret Beheim, Riana Minocher, Maguin Gutierrez, Gregory S Thomas, Margaret Gatz, Jonathan Stieglitz, Caleb E Finch, Hillard Kaplan, M

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Shariant平台:促进澳大利亚临床基因检测实验室间的证据共享,以支持变异解读。

Tudini, Emma; Andrews, James; Lawrence, David M; King-Smith, Sarah L; Baker, Naomi; Baxter, Leanne; Beilby, John; Bennetts, Bruce; Beshay, Victoria; Black, Michael; Boughtwood, Tiffany F; Brion, Kristian; Cheong, Pak Leng; Christie, Michael; Christodoulou, John; Chong, Belinda; Cox, Kathy; Davis, Mark R; Dejong, Lucas; Dinger, Marcel E; Doig, Kenneth D; Douglas, Evelyn; Dubowsky, Andrew; Ellul, Melissa; Fellowes, Andrew; Fisk, Katrina; Fortuno, Cristina; Friend, Kathryn; Gallagher, Renee L; Gao, Song; Hackett, Emma; Hadler, Johanna; Hipwell, Michael; Ho, Gladys; Hollway, Georgina; Hooper, Amanda J; Kassahn, Karin S; Krishnaraj, Rahul; Lau, Chiyan; Le, Huong; San Leong, Huei; Lundie, Ben; Lunke, Sebastian; Marty, Anthony; McPhillips, Mary; Nguyen, Lan T; Nones, Katia; Palmer, Kristen; Pearson, John V; Quinn, Michael C J; Rawlings, Lesley H; Sadedin, Simon; Sanchez, Louisa; Schreiber, Andreas W; Sigalas, Emanouil; Simsek, Aygul; Soubrier, Julien; Stark, Zornitza; Thompson, Bryony A; U, James; Vakulin, Cassandra G; Wells, Amanda V; Wise, Cheryl A; Woods, Rick; Ziolkowski, Andrew; Brion, Marie-Jo; Scott, Hamish S; Thorne, Natalie P; Spurdle, Amanda B

Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance

患有严重胰岛素抵抗的儿童,因INSR基因突变而罹患单基因糖尿病

Sanderson, Elaine E; Shah, Mark; Hooper, Amanda J; Bell, Damon A; Choong, Catherine S

Protective lipid-lowering variants in healthy older individuals without coronary heart disease

健康老年人(无冠心病)的保护性降脂变异

Lacaze, Paul; Riaz, Moeen; Sebra, Robert; Hooper, Amanda J; Pang, Jing; Tiller, Jane; Polekhina, Galina; Tonkin, Andrew; Reid, Chris; Zoungas, Sophia; Murray, Anne M; Nicholls, Stephen; Watts, Gerald; Schadt, Eric; McNeil, John J

Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation

治疗性血浆置换术用于治疗由脂蛋白脂肪酶突变引起的严重妊娠高甘油三酯血症性胰腺炎

Kim, Albert S; Hakeem, Rashida; Abdullah, Azaliya; Hooper, Amanda J; Tchan, Michel C; Alahakoon, Thushari I; Girgis, Christian M