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

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.

对沙特阿拉伯东部地区被诊断为 1 型血管性血友病患者的表型和基因型(外显子 28)特征进行分析

Alzahrani Faisal Mousa, Al Faris Asma Abdulrazaq, Shaikh Saeed Sattar, Hassan Fathelrahman Mahdi, Aldossary Maryam Ahmed, Al Sultan Osama, Elhadi Nasreldin, Alabsi Sulaiman Salman, Alsahli Mohammed, Bashawri Layla Abdulmohsen, Muzaheed Muzaheed, Goodeve Anne

Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease

沙特阿拉伯东部先前诊断为 1 型血管性血友病患者的 VWF 外显子 18 的表型和基因型特征

Alzahrani, Faisal M; Al Faris, Asma A; Bashawri, Layla A; Hassan, Fathelrahman Mahdi; El-Masry, Omar S; Aldossary, Maryam A; Al Sultan, Osama; Borgio, J Francis; Alsahli, Mohammed A; Goodeve, Anne

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS

3WINTERS-IPS研究中纳入的欧洲和伊朗3型血管性血友病患者的基因型

Baronciani, Luciano; Peake, Ian; Schneppenheim, Reinhard; Goodeve, Anne; Ahmadinejad, Minoo; Badiee, Zahra; Baghaipour, Mohammad-Reza; Benitez, Olga; Bodó, Imre; Budde, Ulrich; Cairo, Andrea; Castaman, Giancarlo; Eshghi, Peyman; Goudemand, Jenny; Hassenpflug, Wolf; Hoorfar, Hamid; Karimi, Mehran; Keikhaei, Bijan; Lassila, Riitta; Leebeek, Frank W G; Lopez Fernandez, Maria Fernanda; Mannucci, Pier Mannuccio; Marino, Renato; Nikšić, Nikolas; Oyen, Florian; Santoro, Cristina; Tiede, Andreas; Toogeh, Gholamreza; Tosetto, Alberto; Trossaert, Marc; Zetterberg, Eva M K; Eikenboom, Jeroen; Federici, Augusto B; Peyvandi, Flora

Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms

对大片段框内血管性血友病因子缺失的特征分析揭示了不同的致病机制。

Cartwright, Ashley; Webster, Simon J; de Jong, Annika; Dirven, Richard J; Bloomer, Lisa D S; Al-Buhairan, Ahlam M; Budde, Ulrich; Halldén, Christer; Habart, David; Goudemand, Jenny; Peake, Ian R; Eikenboom, Jeroen C J; Goodeve, Anne C; Hampshire, Daniel J

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

经筛选的出血、血栓和血小板疾病致病基因:来自国际血栓与止血学会(ISTH)科学科学委员会(SSC)的通报

Megy, Karyn; Downes, Kate; Simeoni, Ilenia; Bury, Loredana; Morales, Joannella; Mapeta, Rutendo; Bellissimo, Daniel B; Bray, Paul F; Goodeve, Anne C; Gresele, Paolo; Lambert, Michele; Reitsma, Pieter; Ouwehand, Willem H; Freson, Kathleen

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

更正:先天性无纤维蛋白原血症患者新突变的鉴定及巴基斯坦人群错义突变的分子建模

Naz, Arshi; Biswas, Arijit; Khan, Tehmina Nafees; Goodeve, Anne; Ahmed, Nisar; Saqlain, Nazish; Ahmed, Shariq; Ujjan, Ikram Din; Shamsi, Tahir S; Oldenburg, Johannes

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance

常见的VWF单核苷酸变异c.2365A>G和c.2385T>C会影响VWF的生物合成和清除。

Mufti, Ahmad H; Ogiwara, Kenichi; Swystun, Laura L; Eikenboom, Jeroen C J; Budde, Ulrich; Hopman, Wilma M; Halldén, Christer; Goudemand, Jenny; Peake, Ian R; Goodeve, Anne C; Lillicrap, David; Hampshire, Daniel J

Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

先天性无纤维蛋白原血症患者新突变的鉴定及巴基斯坦人群错义突变的分子建模

Naz, Arshi; Biswas, Arijit; Khan, Tehmina Nafees; Goodeve, Anne; Ahmed, Nisar; Saqlain, Nazish; Ahmed, Shariq; Ujjan, Ikram Din; Shamsi, Tahir S; Oldenburg, Johannes

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

一种用于诊断遗传性出血、血栓和血小板疾病的高通量测序检测方法

Simeoni, Ilenia; Stephens, Jonathan C; Hu, Fengyuan; Deevi, Sri V V; Megy, Karyn; Bariana, Tadbir K; Lentaigne, Claire; Schulman, Sol; Sivapalaratnam, Suthesh; Vries, Minka J A; Westbury, Sarah K; Greene, Daniel; Papadia, Sofia; Alessi, Marie-Christine; Attwood, Antony P; Ballmaier, Matthias; Baynam, Gareth; Bermejo, Emilse; Bertoli, Marta; Bray, Paul F; Bury, Loredana; Cattaneo, Marco; Collins, Peter; Daugherty, Louise C; Favier, Rémi; French, Deborah L; Furie, Bruce; Gattens, Michael; Germeshausen, Manuela; Ghevaert, Cedric; Goodeve, Anne C; Guerrero, Jose A; Hampshire, Daniel J; Hart, Daniel P; Heemskerk, Johan W M; Henskens, Yvonne M C; Hill, Marian; Hogg, Nancy; Jolley, Jennifer D; Kahr, Walter H; Kelly, Anne M; Kerr, Ron; Kostadima, Myrto; Kunishima, Shinji; Lambert, Michele P; Liesner, Ri; López, José A; Mapeta, Rutendo P; Mathias, Mary; Millar, Carolyn M; Nathwani, Amit; Neerman-Arbez, Marguerite; Nurden, Alan T; Nurden, Paquita; Othman, Maha; Peerlinck, Kathelijne; Perry, David J; Poudel, Pawan; Reitsma, Pieter; Rondina, Matthew T; Smethurst, Peter A; Stevenson, William; Szkotak, Artur; Tuna, Salih; van Geet, Christel; Whitehorn, Deborah; Wilcox, David A; Zhang, Bin; Revel-Vilk, Shoshana; Gresele, Paolo; Bellissimo, Daniel B; Penkett, Christopher J; Laffan, Michael A; Mumford, Andrew D; Rendon, Augusto; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Turro, Ernest

In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion

计算机模拟分析突显了导致历史上报道的VWF外显子42缺失的拷贝数变异机制。

Cartwright, A; Peake, I R; Goodeve, A C; Hampshire, D J