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Authors whose works are in public domain in at least one jurisdiction

List of works by Anne C Goodeve

A SECOND CASE OF Hb RENERT [β133(H11)Val → Ala]

scientific article published on 01 August 2001

A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations

scientific article published on 01 September 1999

A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease

scientific article published in January 2011

A comparison of the allelic frequencies of ten DNA polymorphisms associated with factor VIII and factor IX genes in Thai and Western European populations

scientific article published in February 1994

A graded-dose study of inactivated, surface antigen influenza B vaccine in volunteers: reactogenicity, antibody response and protection to challenge virus infection

scientific article

A novel FVIII gene inversion which causes severe haemophilia A

article

A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD)

scientific article published on 01 April 2006

A rapid and cost effective method for analysis of dinucleotide repeat polymorphisms in the factor VIII gene

scientific article

A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis

scientific article published in March 1999

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms

scientific article

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor

scientific article published in May 2001

A study of Wilson disease mutations in Britain

scientific article published on 01 January 1999

Aberrant methylation of the negative regulators RASSFIA, SHP-1 and SOCS-1 in myelodysplastic syndromes and acute myeloid leukaemia.

scientific article published in April 2005

Activating loop mutations in the PDGFR alpha and beta genes are rare in core binding factor acute myeloid leukaemia

article

Advances in carrier detection in haemophilia

scientific article published in July 1998

Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature

scientific article published in October 2004

Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor

scientific article published on 5 June 2003

Another step towards understanding hemophilia A molecular pathogenesis ⬇️

scientific article published on December 1, 2010

Are aberrant BCR-ABL transcripts more common than previously thought?

scientific article published on 01 December 2000

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

scientific article published on 23 October 2012

BCR-ABL transcript with an e19a2 (c3a2) junction in classical chronic myeloid leukemia

scientific article published on 01 April 1997

Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques

scientific article published on 01 June 1996

Clonal stability in late-relapsing childhood lymphoblastic leukaemia

scientific article published on 01 September 1997

DNA polymorphisms for carrier detection of hemophilia in Thailand.

scientific article published in January 1995

Deep intronic variations may cause mild hemophilia A.

scientific article published in August 2011

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

scientific article published in March 2008

Detection of EBV DNA in post-nasal space biopsy tissue from asymptomatic EBV-seropositive individuals

scientific article published on 01 May 1992

Diagnosis and management of von Willebrand disease in the United Kingdom

scientific article published on July 2011

Effect of the VWF promoter (GT)n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions

scientific article

Enhanced carrier and prenatal diagnosis in the Italian haemophilia B population

scientific article published on July 2007

Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis

scientific article published in May 2000

Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study

scientific article published on 30 June 2009

F8 and F9 mutations fail to co-segregate in a family with co-incident haemophilia A and B.

scientific article published on 22 September 2010

FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia

scientific article published on 01 July 2002

FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group

scientific article published on 01 October 2000

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

scientific article published in September 1995

Factor VIII gene rearrangements in patients with severe haemophilia A.

scientific article published in February 1994

Gene structure, expression profiling and mutation analysis of the tumour suppressor SHIP1 in Caucasian acute myeloid leukaemia

article

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

scientific article

Genetic testing for von Willebrand disease: the case for

scientific article published on 26 October 2009

Genetic testing in bleeding disorders

scientific article

Genetics for Hematologists: The Molecular Genetic Basis of Haematological Disorders

article

Genetics of type 1 von Willebrand disease

scientific article published on September 2007

Genomic structure of human FLT3: implications for mutational analysis

scientific article published on 01 June 2001

Genomics of bleeding disorders.

scientific article published on May 2014

Haemophilia A and von Willebrand's disease.

scientific article published on July 2010

Hemophilia B: molecular pathogenesis and mutation analysis.

scientific article published on 18 May 2015

Homeologous recombination between AluSx-sequences as a cause of hemophilia

scientific article

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort

scientific article published on 23 May 2013

Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

scientific article published on 23 February 2009

Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia

scientific article published in June 2001

Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

scientific article published on 14 March 2008

Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD).

scientific article published in April 2007

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

scientific article published in August 2016

Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias

scientific article published on 01 June 2003

Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome

article

Is routine molecular screening for common alpha-thalassaemia deletions necessary as part of an antenatal screening programme?

scientific article (publication date: 2007)

JAK2 V617F Mutation is uncommon in chronic myelomonocytic leukaemia

scientific article published on 01 September 2005

Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis

scientific article

Laboratory methods for the genetic diagnosis of bleeding disorders ⬇️

scientific article published on February 1, 1998

Late relapsing childhood lymphoblastic leukemia ⬇️

scientific article published on October 1, 1998

Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD

scientific article published on 01 April 2006

Methylation of the suppressor of cytokine signaling 3 gene (SOCS3) in myeloproliferative disorders

scientific article published on 24 September 2008

Molecular genetic testing of hemophilia A.

scientific article

Mutational analysis of class III receptor tyrosine kinases (C-KIT, C-FMS, FLT3) in idiopathic myelofibrosis

scientific article

Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques

article

Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia

scientific article published in March 2004

Nomenclature of genetic variants in hemostasis

scientific article published in April 2011

Null alleles are not a common cause of type 1 von Willebrand disease in the British population

scientific article published on 01 October 1999

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

scientific article published on 19 September 2006

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

scientific article published on 17 September 2010

Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis

scientific article published on 01 April 1998

Principles of care for the diagnosis and treatment of von Willebrand disease ⬇️

scientific article published on May 1, 2013

Quality in molecular biology testing for inherited thrombophilia disorders

scientific article published on 20 August 2012

Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis

scientific article published in June 1998

Re-evaluation of three Israeli families initially diagnosed with type 1 von Willebrand disease in light of the ISTH update on von Willebrand factor pathophysiology and classification.

scientific article published in April 2008

Reassortants of influenza B viruses for use in vaccines: An evaluation

scientific article published on 01 January 1985

Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate). Recombinate PUP Study Group

article

Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.

scientific article published on 29 January 2008

Second hit mutations in the RTK/RAS signaling pathway in acute myeloid leukemia with inv(16)

scientific article published on 01 January 2004

Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects

scientific article published in June 2007

Somatic mosaicism in hemophilia A: a fairly common event.

scientific article published on 14 June 2001

Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A

scientific article published on 28 June 2013

The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia

scientific article published on 01 November 2006

The UK National External Quality Assessment Scheme for heritable bleeding disorders

scientific article published on 4 February 2014

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

scientific article published on 01 July 2018

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

scientific article

The genetic basis of von Willebrand disease

scientific article published on 20 April 2010

The impact of bleeding history, von Willebrand factor and PFA-100(®) on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWD.

scientific article published on 25 August 2010

The incidence of inhibitor development according to specific mutations - and treatment? ⬇️

scientific article published on June 1, 2003

The international society on thrombosis and haematosis von Willebrand disease database: an update

scientific article published on July 2011

The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network

scientific article

The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network

scientific article

The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network

scientific article

The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development

scientific article

The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked

scientific article published on June 2011

The use of the single radial haemolysis test for assessing antibody response and protective antibody levels in an influenza B vaccine study

scientific article published on 01 October 1983

Tribbles-1 and -2 are tumour suppressors, down-regulated in human acute myeloid leukaemia

scientific article

Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor

scientific article published on 01 March 2000

VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease ⬇️

scientific article published on January 24, 2013

VWF sequence variants: a data goldmine ⬇️

scientific article published on July 25, 2013

Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD.

scientific article published on 22 July 2010

Vicenza deciphered: modeling the von Willebrand disease enigma: commentary on accelerated clearance alone explains ultralarge multimers in VWD Vicenza

scientific article published on 04 March 2010

When 1 plus 1 equals 3 in VWD

scientific article published on 01 July 2009

c-FMS mutational analysis in acute myeloid leukaemia

c-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia

scientific article published on 01 June 1999

p.P2063S: a neutral VWF variant masquerading as a mutation

scientific article published on 18 June 2013

p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.

scientific article published on 14 July 2011

von Willebrand Disease

scientific article published on 5 October 2017

von Willebrand disease.

scientific article

von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.

scientific article published on September 2010

von Willebrand's disease: a report from a meeting in the Åland islands

scientific article

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