(Q33345045)

English

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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0 references

object named as

Shin-Yu Lin

1

0 references

object named as

Chien-Nan Lee

8

0 references

object named as

Hong-Nerng Ho

7

0 references

author name string

Yi-Ning Su

2

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Chia-Cheng Hung

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Woei Tsay

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Shyh-Shin Chiou

5

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Chieh-Ting Chang

6

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

20 June 2008

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

53

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Hemophilia: a practical approach to genetic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Twin study of genetic and aging effects on X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Primer on medical genomics. Part VIII: Essentials of medical genetics for the practicing physician

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Molecular defects in coagulation Factor VIII and their impact on Factor VIII function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Product differentiation by analysis of DNA melting curves during the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Characterization of the human factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Hemophilia A in a Phenotypically Normal Female with XX/XO Mosaicism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

14 July 2018

Expression of active human factor VIII from recombinant DNA clones

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in Prader-Willi syndrome and Duchenne muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Mutation reports: intron 1 and 22 inversions in Indian haemophilics

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

X Inactivation in Females with X-Linked Disease

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-9-53

21 January 2018

The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

31 October 2018

Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

31 October 2018

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

31 October 2018

Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

31 October 2018

Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

31 October 2018

X inactivation in females with X-linked disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

31 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2442058

31 October 2018

Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18565236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18565236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abstracts of the American Society of Hematology 45th Annual Meeting. December 6-9, 2003. San Diego, California, USA

1 reference

https://pubmed.ncbi.nlm.nih.gov/18565236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of genetic defects of hemophilia A in patients of Chinese origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/18565236

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1471-2350-9-53

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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pubmed-PMC2442058

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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