(Q35569738)

8 August 2017

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title

Carrier testing for autosomal-recessive disorders (English)

1 reference

8 August 2017

Hilary Vallance

1

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author name string

Jason Ford

series ordinal

2

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8 August 2017

publication date

1 August 2003

1 reference

Critical Reviews in Clinical Laboratory Sciences

8 August 2017

published in

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8 August 2017

volume

40

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8 August 2017

issue

4

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8 August 2017

page(s)

473-497

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Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

8 August 2017

cites work

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cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

21 January 2018

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Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase

21 January 2018

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SCHILDER'S ENCEPHALITIS PERIAXIALIS DIFFUSA

21 January 2018

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Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

21 January 2018

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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

21 January 2018

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Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.

21 January 2018

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https://api.crossref.org/works/10.1080%2F10408360390247832

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

21 January 2018

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https://api.crossref.org/works/10.1080%2F10408360390247832

Familial dysautonomia is caused by mutations of the IKAP gene

21 January 2018

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Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients

21 January 2018

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Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

21 January 2018

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Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa

21 January 2018

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Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 January 2018

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A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

21 January 2018

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The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population

21 January 2018

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The Bloom's syndrome gene product is homologous to RecQ helicases

21 January 2018

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The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry

21 January 2018

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Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

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DNA mutation analysis of Gaucher patients

21 January 2018

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The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

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Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

21 January 2018

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Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

21 January 2018

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The cost of treating Gaucher disease.

21 January 2018

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Prenatal diagnosis and screening of the haemoglobinopathies.

21 January 2018

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Genetic diseases of hemoglobin: diagnostic methods for elucidating beta-thalassemia mutations.

21 January 2018

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Development of DNA analysis for human diseases. Sickle cell anemia and thalassemia as a paradigm

21 January 2018

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21 January 2018

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21 January 2018

The beta-thalassemias

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The population genetics of the haemoglobinopathies

21 January 2018

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21 January 2018

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21 January 2018

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Hematologic disorders in children from southeast Asia

21 January 2018

1 reference

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Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent

21 January 2018

1 reference

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Comparison of the HbH inclusion test and a PCR test in routine screening for alpha thalassaemia in Hong Kong

21 January 2018

1 reference

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Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis

21 January 2018

1 reference

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Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Population-based genetic screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Asian immigration and public health in California: thalassemia in newborns in California

21 January 2018

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https://api.crossref.org/works/10.1080%2F10408360390247832

Newborn screening for sickle cell disease: 4 years of experience from California's newborn screening program

21 January 2018

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https://api.crossref.org/works/10.1080%2F10408360390247832

Screening criteria for beta thalassaemia trait in pregnant women

21 January 2018

1 reference

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Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?

21 January 2018

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Practical guide to the diagnosis of thalassemia. Council of Regional Networks for Genetic Services (CORN).

21 January 2018

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Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Detection of the (--SEA) double alpha-globin gene deletion by a simple immunologic assay for embryonic zeta-globin chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Normal long-term survival with alpha-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Survival of a hydropic infant with homozygous α-thalassemia-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

The laboratory diagnosis of haemoglobinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Diagnosis of Sickle Cell Anemia and β-Thalassemia with Enzymatically Amplified DNA and Nonradioactive Allele-Specific Oligonucleotide Probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Rapid differentiation of five common alpha-thalassemia genotypes by polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

The Montreal Thalassemia Screening program. Response of the high school students

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Ten years' experience of antenatal mean corpuscular volume screening and prenatal diagnosis for thalassaemias in Hong Kong

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinians

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360390247832

10.1080/10408360390247832

21 January 2018

Identifiers

DOI

1 reference

8 August 2017

1 reference