Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Menstruation in girls and adolescents: using the menstrual cycle as a vital sign.
A Diaz, MR Laufer, LL Breech - Pediatrics, 2006 - europepmc.org
Young patients and their parents often are unsure about what represents normal menstrual
patterns, and clinicians also may be unsure about normal ranges for menstrual cycle length …
patterns, and clinicians also may be unsure about normal ranges for menstrual cycle length …
von Willebrand disease (VWD): evidence‐based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report …
WL Nichols, MB Hultin, AH James… - …, 2008 - Wiley Online Library
von Willebrand disease (VWD) is a commonly encountered inherited bleeding disorder
affecting both males and females, causing mucous membrane and skin bleeding symptoms …
affecting both males and females, causing mucous membrane and skin bleeding symptoms …
Perioperative blood transfusion and blood conservation in cardiac surgery: the Society of Thoracic Surgeons and The Society of Cardiovascular Anesthesiologists …
VA Ferraris, SP Ferraris, SP Saha, EA Hessel II… - The Annals of thoracic …, 2007 - Elsevier
BACKGROUND: A minority of patients having cardiac procedures (15% to 20%) consume
more than 80% of the blood products transfused at operation. Blood must be viewed as a …
more than 80% of the blood products transfused at operation. Blood must be viewed as a …
[HTML][HTML] A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD)
A Tosetto, F Rodeghiero, G Castaman… - Journal of Thrombosis …, 2006 - Elsevier
Background: A quantitative description of bleeding symptoms in type 1 von Willebrand
disease (VWD) has never been reported. Objectives: The aim was to quantitatively evaluate …
disease (VWD) has never been reported. Objectives: The aim was to quantitatively evaluate …
The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study
F Rodeghiero, G Castaman, A Tosetto… - … of thrombosis and …, 2005 - Wiley Online Library
Objective: The aim of this study was the validation of the criteria defining a significant
mucocutaneous‐bleeding history in type 1 von Willebrand disease (VWD). Subjects and …
mucocutaneous‐bleeding history in type 1 von Willebrand disease (VWD). Subjects and …
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients
AB Federici, PM Mannucci, G Castaman… - Blood, The Journal …, 2009 - ashpublications.org
Type 2B von Willebrand disease (VWD2B) is caused by an abnormal von Willebrand factor
(VWF) with increased affinity for the platelet receptor glycoprotein Ib-α (GPIb-α) that may …
(VWF) with increased affinity for the platelet receptor glycoprotein Ib-α (GPIb-α) that may …
The bleeding score predicts clinical outcomes and replacement therapy in adults with von Willebrand disease
AB Federici, P Bucciarelli, G Castaman… - Blood, The Journal …, 2014 - ashpublications.org
Analyses of the bleeding tendency by means of the bleeding score (BS) have been
proposed until now to confirm diagnosis but not to predict clinical outcomes in patients with …
proposed until now to confirm diagnosis but not to predict clinical outcomes in patients with …
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD
G Castaman, S Lethagen, AB Federici… - Blood, The Journal …, 2008 - ashpublications.org
We have prospectively evaluated the biologic response to desmopressin in 77 patients with
type 1 von Willebrand disease (VWD) enrolled within the Molecular and Clinical Markers for …
type 1 von Willebrand disease (VWD) enrolled within the Molecular and Clinical Markers for …
Diagnosis and treatment of von Willebrand disease and rare bleeding disorders
G Castaman, S Linari - Journal of clinical medicine, 2017 - mdpi.com
Along with haemophilia A and B, von Willebrand disease (VWD) and rare bleeding
disorders (RBDs) cover all inherited bleeding disorders of coagulation. Bleeding tendency …
disorders (RBDs) cover all inherited bleeding disorders of coagulation. Bleeding tendency …