Search | VHL CLAP/WR-PAHO/WHO

1.

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Bury, Loredana; Megy, Karyn; Stephens, Jonathan C; Grassi, Luigi; Greene, Daniel; Gleadall, Nick; Althaus, Karina; Allsup, David; Bariana, Tadbir K; Bonduel, Mariana; Butta, Nora V; Collins, Peter; Curry, Nicola; Deevi, Sri V V; Downes, Kate; Duarte, Daniel; Elliott, Kim; Falcinelli, Emanuela; Furie, Bruce; Keeling, David; Lambert, Michele P; Linger, Rachel; Mangles, Sarah; Mapeta, Rutendo; Millar, Carolyn M; Penkett, Christopher; Perry, David J; Stirrups, Kathleen E; Turro, Ernest; Westbury, Sarah K; Wu, John; BioResource, Nihr; Gomez, Keith; Freson, Kathleen; Ouwehand, Willem H; Gresele, Paolo; Simeoni, Ilenia.

Hum Mutat ; 41(1): 277-290, 2020 01.

Article in English | MEDLINE | ID: mdl-31562665

2.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Westbury, Sarah K; Canault, Matthias; Greene, Daniel; Bermejo, Emilse; Hanlon, Katharine; Lambert, Michele P; Millar, Carolyn M; Nurden, Paquita; Obaji, Samya G; Revel-Vilk, Shoshana; Van Geet, Chris; Downes, Kate; Papadia, Sofia; Tuna, Salih; Watt, Christopher; Freson, Kathleen; Laffan, Michael A; Ouwehand, Willem H; Alessi, Marie-Christine; Turro, Ernest; Mumford, Andrew D.

Blood ; 130(8): 1026-1030, 2017 08 24.

Article in English | MEDLINE | ID: mdl-28637664

3.

An open-label, multi-centre, post-marketing study to assess the efficacy and safety of a plasma-derived VWF/FVIII concentrate in patients with von Willebrand disease.

Miesbach, Wolfgang; Halimeh, Susan; Platokouki, Helen; Podolak-Dawidziak, Maria; Zdziarska, Joanna; Korczowski, Bartosz; Chowdary, Pratima; Austin, Steve; Millar, Carolyn; Alamelu, Jayanthi; Rogosch, Tobias; Pabinger, Ingrid.

Haemophilia ; 30(1): 236-240, 2024 Jan.

Article in English | MEDLINE | ID: mdl-38030954

4.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt, Simon; Nurden, Paquita; Turro, Ernest; Greene, Daniel; Jansen, Sjoert B; Westbury, Sarah K; Petersen, Romina; Astle, William J; Marlin, Sandrine; Bariana, Tadbir K; Kostadima, Myrto; Lentaigne, Claire; Maiwald, Stephanie; Papadia, Sofia; Kelly, Anne M; Stephens, Jonathan C; Penkett, Christopher J; Ashford, Sofie; Tuna, Salih; Austin, Steve; Bakchoul, Tamam; Collins, Peter; Favier, Rémi; Lambert, Michele P; Mathias, Mary; Millar, Carolyn M; Mapeta, Rutendo; Perry, David J; Schulman, Sol; Simeoni, Ilenia; Thys, Chantal; Gomez, Keith; Erber, Wendy N; Stirrups, Kathleen; Rendon, Augusto; Bradley, John R; van Geet, Chris; Raymond, F Lucy; Laffan, Michael A; Nurden, Alan T; Nieswandt, Bernhard; Richardson, Sylvia; Freson, Kathleen; Ouwehand, Willem H; Mumford, Andrew D.

Blood ; 127(23): 2903-14, 2016 06 09.

Article in English | MEDLINE | ID: mdl-26912466

5.

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

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.

Blood ; 127(23): 2791-803, 2016 06 09.

Article in English | MEDLINE | ID: mdl-27084890

6.

Treatment burden, haemostatic strategies and real world inhibitor screening practice in non-severe haemophilia A.

Batty, Paul; Austin, Steve K; Khair, Kate; Millar, Carolyn M; Palmer, Ben; Rangarajan, Savita; Stümpel, Jan-Phillip; Thanigaikumar, Murugaiyan; Yee, Thynn T; Hart, Daniel P.

Br J Haematol ; 176(5): 796-804, 2017 Mar.

Article in English | MEDLINE | ID: mdl-28198996

7.

Blocking direct inhibitor bleeding.

Millar, Carolyn M; Lane, David A.

Blood ; 121(18): 3543-4, 2013 May 02.

Article in English | MEDLINE | ID: mdl-23640994

8.

Pharmacokinetics and safety of a novel recombinant human von Willebrand factor manufactured with a plasma-free method: a prospective clinical trial.

Mannucci, Pier Mannuccio; Kempton, Christine; Millar, Carolyn; Romond, Edward; Shapiro, Amy; Birschmann, Ingvild; Ragni, Margaret V; Gill, Joan Cox; Yee, Thynn Thynn; Klamroth, Robert; Wong, Wing-Yen; Chapman, Miranda; Engl, Werner; Turecek, Peter L; Suiter, Tobias M; Ewenstein, Bruce M.

Blood ; 122(5): 648-57, 2013 Aug 01.

Article in English | MEDLINE | ID: mdl-23777763

9.

Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Starke, Richard D; Paschalaki, Koralia E; Dyer, Clare E F; Harrison-Lavoie, Kimberly J; Cutler, Jacqueline A; McKinnon, Thomas A J; Millar, Carolyn M; Cutler, Daniel F; Laffan, Mike A; Randi, Anna M.

Blood ; 121(14): 2773-84, 2013 Apr 04.

Article in English | MEDLINE | ID: mdl-23355534

10.

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.

van Oorschot, Rinske; Marneth, Anna E; Bergevoet, Saskia M; van Bergen, Maaike G J M; Peerlinck, Kathelijne; Lentaigne, Claire E; Millar, Carolyn M; Westbury, Sarah K; Favier, Remi; Erber, Wendy N; Turro, Ernest; Jansen, Joop H; Ouwehand, Willem H; McKinney, Harriet L; Downes, Kate; Freson, Kathleen; van der Reijden, Bert A.

Haematologica ; 104(6): e260-e264, 2019 06.

Article in English | MEDLINE | ID: mdl-30573501

11.

Three-year outcomes of valoctocogene roxaparvovec gene therapy for hemophilia A.

Madan, Bella; Ozelo, Margareth C; Raheja, Priyanka; Symington, Emily; Quon, Doris V; Leavitt, Andrew D; Pipe, Steven W; Lowe, Gillian; Kenet, Gili; Reding, Mark T; Mason, Jane; Wang, Michael; von Drygalski, Annette; Klamroth, Robert; Shapiro, Susan; Chambost, Hervé; Dunn, Amy L; Oldenburg, Johannes; Chou, Sheng-Chieh; Peyvandi, Flora; Millar, Carolyn M; Osmond, Dane; Yu, Hua; Dashiell-Aje, Ebony; Robinson, Tara M; Mahlangu, Johnny.

J Thromb Haemost ; 2024 Apr 12.

Article in English | MEDLINE | ID: mdl-38614387

12.

A need to increase von Willebrand disease awareness: vwdtest.com - A global initiative to help address this gap.

Corrales-Medina, Fernando F; Federici, Augusto B; Srivastava, Alok; Dougall, Alison; Millar, Carolyn M; Roberts, Jonathan C; Jaffray, Julie; Berntorp, Erik.

Blood Rev ; 58: 101018, 2023 03.

Article in English | MEDLINE | ID: mdl-36210240

13.

Dealing with the uncertain risk of variant Creutzfeldt-Jakob disease transmission by coagulation replacement products.

Millar, Carolyn M; Makris, Mike.

Br J Haematol ; 158(4): 442-52, 2012 Aug.

Article in English | MEDLINE | ID: mdl-22775486

14.

Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.

Joyce, Katie E; Onabanjo, Ebun; Brownlow, Sheila; Nur, Fadumo; Olupona, Kike; Fakayode, Kehinde; Sroya, Manveer; Thomas, Geraldine A; Ferguson, Teena; Redhead, Julian; Millar, Carolyn M; Cooper, Nichola; Layton, D Mark; Boardman-Pretty, Freya; Caulfield, Mark J; Shovlin, Claire L.

Blood Adv ; 6(13): 3956-3969, 2022 07 12.

Article in English | MEDLINE | ID: mdl-35316832

15.

Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor.

Riddell, Anne F; Gomez, Keith; Millar, Carolyn M; Mellars, Gillian; Gill, Saher; Brown, Simon A; Sutherland, Megan; Laffan, Mike A; McKinnon, Thomas A J.

Blood ; 114(16): 3489-96, 2009 Oct 15.

Article in English | MEDLINE | ID: mdl-19687512

16.

Diagnosis, therapeutic advances, and key recommendations for the management of factor X deficiency.

Peyvandi, Flora; Auerswald, Guenter; Austin, Steven K; Liesner, Ri; Kavakli, Kaan; Álvarez Román, Maria Teresa; Millar, Carolyn M.

Blood Rev ; 50: 100833, 2021 11.

Article in English | MEDLINE | ID: mdl-34024682

17.

The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.

Laffan, Mike A; Lester, Will; O'Donnell, James S; Will, Andrew; Tait, Robert Campbell; Goodeve, Anne; Millar, Carolyn M; Keeling, David M.

Br J Haematol ; 167(4): 453-65, 2014 Nov.

Article in English | MEDLINE | ID: mdl-25113304

18.

Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations.

Millar, Carolyn M; Riddell, Anne F; Brown, Simon A; Starke, Richard; Mackie, Ian; Bowen, Derrick J; Jenkins, P Vincent; van Mourik, Jan A.

Thromb Haemost ; 99(5): 916-24, 2008 May.

Article in English | MEDLINE | ID: mdl-18449422

19.

Drug therapy in anticoagulation: which drug for which patient?

Millar, Carolyn M; Laffan, Mike A.

Clin Med (Lond) ; 17(3): 233-244, 2017 06.

Article in English | MEDLINE | ID: mdl-28572224

20.

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Lynch, Christopher J; Cawte, Adam D; Millar, Carolyn M; Rueda, David; Lane, David A.

PLoS One ; 12(11): e0188405, 2017.

Article in English | MEDLINE | ID: mdl-29186156

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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