Haemophilia A: molecular insights. (Q36793856)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17439320%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

review article

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title

Haemophilia A: molecular insights (English)

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29 December 2019

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29 December 2019

Valeria D'Argenio

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29 December 2019

Federica Zarrilli

4

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29 December 2019

Antonio Coppola

7

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29 December 2019

Giovanni Di Minno

8

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29 December 2019

Francesco Salvatore

9

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29 December 2019

3

Paola Nardiello

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29 December 2019

5

Veronica Sanna

1 reference

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29 December 2019

6

Angiola Rocino

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29 December 2019

publication date

1 January 2007

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Clinical Chemistry and Laboratory Medicine

29 December 2019

published in

1 reference

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29 December 2019

volume

45

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29 December 2019

issue

4

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29 December 2019

page(s)

450-461

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Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions

29 December 2019

cites work

1 reference

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Perinatal management of newborns with haemophilia

21 January 2018

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Changes in blood coagulation and fibrinolysis associated with maximal exercise and physical conditioning in women taking low dose oral contraceptives.

21 January 2018

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Molecular basis of haemophilia A.

21 January 2018

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Gene transfer for hemophilia: can therapeutic efficacy in large animals be safely translated to patients?

21 January 2018

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Mutation of the surface-exposed amino acid Trp to Ala in the FVIII C2 domain results in defective secretion of the otherwise functional protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Characterization of the human factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Detection of gamma-globin mRNA in fetal nucleated red blood cells by PNA fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Circulating fetal DNA: its origin and diagnostic potential-a review

21 January 2018

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Preimplantation diagnosis of common aneuploidies by the first- and second-polar body FISH analysis

21 January 2018

1 reference

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Cellular immune responses in hemophilia: why do inhibitors develop in some, but not all hemophiliacs?

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

21 January 2018

1 reference

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Identification of coagulation factor VIII A2 domain residues forming the binding epitope for low-density lipoprotein receptor-related protein.

21 January 2018

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Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Evaluation of DHPLC in the analysis of hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Large animal models and gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Inversions of the factor VIII gene in Japanese patients with severe hemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their analysis on a molecular model of factor VIII protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: impact on plasma homocysteine levels and development of coronary artery disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Chorionic villus sampling: a distinctive teratogenic effect on fingers?

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

The history of haemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Genotyping the hemophilia inversion hotspot by use of inverse PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Factor VIII - novel insights into form and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Blood proteins from transgenic animal bioreactors

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

New perspectives in hemophilia treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

How the T Cell Repertoire Becomes Peptide and MHC Specific

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Bioengineering of coagulation factor VIII for improved secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

A STUDY OF THE COAGULATION DEFECT IN HEMOPHILIA AND IN JAUNDICE.*

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Christmas disease: a condition previously mistaken for haemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Clinical utilization of the international normalized ratio (INR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Prevalence and outcome of intracranial haemorrhage in haemophiliacs--a survey of the paediatric group of the German Society of Thrombosis and Haemostasis (GTH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Prenatal diagnosis of haemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Environmental and genetic factors influencing inhibitor development

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Three novel point mutations causing haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Severe haemophilia A in a female: a compound heterozygote with nonrandom X-inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Rapid clearance of fetal DNA from maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Genotype and phenotype of haemophilia A in Thai patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

In vivo liver electroporation: optimization and demonstration of therapeutic efficacy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

A review of gene therapy for haematological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Expression of active human factor VIII from recombinant DNA clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Suitability of four polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in Japanese subject

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Pre-implantation genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Genetic susceptibility to venous thrombosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Origin of mutation in sporadic cases of haemophilia A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Haemophilic factors produced by transgenic livestock: abundance that can enable alternative therapies worldwide

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

21 January 2018

Global genetic analysis

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093

Structure of human factor VIII

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2007.093