(Q33673549)

English

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

congenital disorder

0 references

author name string

P E Jardine

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

P D Cotter

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

S A Johnson

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

E J Fitzsimons

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

L Tyfield

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

P W Lunt

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

D F Bishop

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 March 1994

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

31

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

213-218

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Sideroblastic anaemia. A review of seven paediatric cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Sideroblastic anaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Congenital Sideroblastic Anaemia in a Girl

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Measurement of delta-aminolevulinic acid synthetase activity in human erythroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Primordial cell pool size and lineage relationships of five human cell types

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Sequence of human 5-aminolevulinate synthase cDNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Multi-allelic RFLP for M27 beta, an anonymous single copy genomic clone at Xp11.3-Xcen [HGM9 provisional no. DXS255].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

A highly informative X-chromosome probe, M27 beta, can be used for the determination of tumour clonality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Congenital sideroblastic anaemia in two girls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Congenital sideroblastic anaemia with intrauterine symptoms and early lethal outcome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

The hypervariable DXS255 locus contains a LINE-1 repetitive element with a CpG island that is extensively methylated only on the active X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

21 June 2018

Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

28 July 2018

A study of a female with congenital sideroblastic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049745

30 October 2018

Measurement of 5-aminolevulinic acid synthase activity in whole and fractionated human bone marrow: effect of myeloid cell lysis by monoclonal antibody

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential methylation at the 5' and the 3' CCGG sites flanking the X chromosomal hypervariable DXS255 locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HEREDITARY SIDEROBLASTIC ANAEMIA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of human haematopoietic progenitor cells using monoclonal antibodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FAMILIAL PYRIDOXINE-RESPONSIVE ANAEMIA

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

5-Aminolaevulinic acid synthase activity in developing human erythroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal inheritance of sideroblastic anaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital sideroblastic anemia in a female

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twenty-six patients with hematologic disorders and X chromosome abnormalities. Frequent idic(X)(q13) chromosomes and Xq13 anomalies associated with pathologic ringed sideroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital refractory anaemia with vacuolisation of bone marrow precursors, sideroblastosis and growth failure in a girl with normal endocrine pancreatic function

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delta-aminolevulinic acid synthetase activity in erythroblasts of patients with sideroblastic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of primary acquired sideroblastic anemia with deficient -aminolevulinic acid synthetase activity in bone marrow erythroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/7912287

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.31.3.213

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

0 references

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