(Q42658503)

4 November 2017

Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease (English)

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alpha-1-antitrypsin deficiency

4 November 2017

1 reference

Cox DW

1

1 reference

4 November 2017

Mansfield T

series ordinal

2

1 reference

4 November 2017

language of work or name

English

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publication date

1 January 1987

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Journal of Medical Genetics

4 November 2017

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4 November 2017

24

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4 November 2017

1

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4 November 2017

52-59

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New variants of alpha 1-antitrypsin: comparison of Pi typing techniques

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Four-year-old children with alpha 1-antitrypsin deficiency. Clinical follow-up and parental attitudes towards neonatal screening.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Outcome of liver disease associated with alpha 1 antitrypsin deficiency (PiZ). Implications for genetic counselling and antenatal diagnosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Advances in the prenatal diagnosis of hematologic diseases

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Pathology and pathogenesis of liver disease in alpha-1-antitrypsin deficient individuals

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Smoking, lung function, and alpha 1-antitrypsin deficiency.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha-antitrypsin heterozygote controversy

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Natural History and Life Expectancy in Severe Alpha1-Antitrypsin Deficiency, Pi Z

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Immunofixation after electrofocusing: Improved method for specific detection of serum proteins with determination of isoelectric points I. Immunofixation print technique for detection of alpha-1-protease inhibitor

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Sequence homology and structural comparison between the chromosomal human alpha 1-antitrypsin and chicken ovalbumin genes.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049856

Risk for liver disease in adults with alpha 1-antitrypsin deficiency

16 August 2018

1 reference

12 December 2020

Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene

1 reference

12 December 2020

Prenatal diagnosis for alpha 1-antitrypsin deficiency

1 reference

12 December 2020

Liver disease in alpha 1-antitrypsin deficiency. A retrospective analysis of the influence of early breast- vs bottle-feeding

1 reference

12 December 2020

Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency

1 reference

12 December 2020

Unraveling the mysteries of alpha 1-antitrypsin deficiency

1 reference

12 December 2020

Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis

1 reference

12 December 2020

Liver disease associated with alpha1-antitrypsin deficiency in childhood

1 reference

12 December 2020

Liver Disease in Alpha1-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

1 reference

12 December 2020

Prenatal diagnosis of alpha 1-antitrypsin deficiency by analysis of fetal blood obtained at fetoscopy

1 reference

12 December 2020

Identifiers

1 reference

4 November 2017

PubMed publication ID

2879935

1 reference