Lista de obras - Anne C Goodeve - Dominio Público Uruguay

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

artículo científico publicado en 2001

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

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 1994

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

artículo científico publicado en 1983

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

artículo científico publicado en 1996

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

artículo científico publicado en 1999

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms

artículo científico publicado en 2001

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

artículo científico publicado en 2001

A study of Wilson disease mutations in Britain

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

Another step towards understanding hemophilia A molecular pathogenesis ⬇️

artículo científico publicado el 1 de diciembre de 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.

artículo científico publicado en 2012

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

artículo científico publicado en 1997

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

artículo científico publicado en 1996

Clonal stability in late-relapsing childhood lymphoblastic leukaemia

artículo científico publicado en 1997

DNA polymorphisms for carrier detection of hemophilia in Thailand.

artículo científico publicado en 1995

Deep intronic variations may cause mild hemophilia A.

artículo científico publicado en 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).

artículo científico publicado en 2008

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

artículo científico publicado en 1992

Diagnosis and management of von Willebrand disease in the United Kingdom

artículo científico

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

artículo científico publicado en 2011

Enhanced carrier and prenatal diagnosis in the Italian haemophilia B population

artículo científico publicado en 2007

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

artículo científico publicado en 2000

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia

artículo científico publicado en 2002

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

artículo científico publicado en 2000

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

artículo científico publicado en 1995

Factor VIII gene rearrangements in patients with severe haemophilia A.

artículo científico publicado en 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.

artículo científico publicado en 2006

Genetic testing for von Willebrand disease: the case for

artículo científico publicado en 2009

Genetic testing in bleeding disorders

artículo científico publicado en 2014

Genetics for Hematologists: The Molecular Genetic Basis of Haematological Disorders

article

Genetics of type 1 von Willebrand disease

artículo científico publicado en 2007

Genomic structure of human FLT3: implications for mutational analysis

artículo científico publicado en 2001

Genomics of bleeding disorders.

artículo científico

Haemophilia A and von Willebrand's disease.

artículo científico publicado en 2010

Hemophilia B: molecular pathogenesis and mutation analysis.

artículo científico publicado en 2015

Homeologous recombination between AluSx-sequences as a cause of hemophilia

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 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).

artículo científico publicado en 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).

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 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?

artículo científico publicado en 2007

JAK2 V617F Mutation is uncommon in chronic myelomonocytic leukaemia

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Laboratory methods for the genetic diagnosis of bleeding disorders ⬇️

artículo científico publicado el 1 de febrero de 1998

Late relapsing childhood lymphoblastic leukemia ⬇️

artículo científico publicado el 1 de octubre de 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

artículo científico publicado en 2008

Molecular genetic testing of hemophilia A.

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2004

Nomenclature of genetic variants in hemostasis

artículo científico publicado en 2011

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

artículo científico publicado en 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)

artículo científico publicado en 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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de mayo de 2013

Quality in molecular biology testing for inherited thrombophilia disorders

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Somatic mosaicism in hemophilia A: a fairly common event.

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2014

The genetic basis of von Willebrand disease

artículo científico publicado en 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.

artículo científico publicado en 2010

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

artículo científico publicado el 1 de junio de 2003

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

artículo científico

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 1983

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

artículo científico publicado en 2009

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

artículo científico publicado en 2000

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

artículo científico publicado el 24 de enero de 2013

VWF sequence variants: a data goldmine ⬇️

artículo científico publicado el 25 de julio de 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.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

von Willebrand Disease

artículo científico publicado en 2017

von Willebrand disease.

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Lista de obras de Anne C Goodeve

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

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

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

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

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

A novel FVIII gene inversion which causes severe haemophilia A

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

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

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

A standard nomenclature for von Willebrand factor gene mutations and polymorphisms

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

A study of Wilson disease mutations in Britain

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

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

Advances in carrier detection in haemophilia

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

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

Another step towards understanding hemophilia A molecular pathogenesis ⬇️

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

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.

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

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

Clonal stability in late-relapsing childhood lymphoblastic leukaemia

DNA polymorphisms for carrier detection of hemophilia in Thailand.

Deep intronic variations may cause mild hemophilia A.

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).

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

Diagnosis and management of von Willebrand disease in the United Kingdom

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

Enhanced carrier and prenatal diagnosis in the Italian haemophilia B population

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

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

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

FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia

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

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

Factor VIII gene rearrangements in patients with severe haemophilia A.

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

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Genetic testing for von Willebrand disease: the case for

Genetic testing in bleeding disorders

Genetics for Hematologists: The Molecular Genetic Basis of Haematological Disorders

Genetics of type 1 von Willebrand disease

Genomic structure of human FLT3: implications for mutational analysis

Genomics of bleeding disorders.

Haemophilia A and von Willebrand's disease.

Hemophilia B: molecular pathogenesis and mutation analysis.

Homeologous recombination between AluSx-sequences as a cause of hemophilia

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

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

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

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).

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

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

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

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

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

JAK2 V617F Mutation is uncommon in chronic myelomonocytic leukaemia

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

Laboratory methods for the genetic diagnosis of bleeding disorders ⬇️

Late relapsing childhood lymphoblastic leukemia ⬇️

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

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

Molecular genetic testing of hemophilia A.

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

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

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

Nomenclature of genetic variants in hemostasis

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

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)

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

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

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

Quality in molecular biology testing for inherited thrombophilia disorders

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

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.

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

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

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