(Q35447455)

English

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

author name string

Harteveld CL

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Voskamp A

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Phylipsen M

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Akkermans N

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

den Dunnen JT

5

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

White SJ

6

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Giordano PC

7

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

0 references

publication date

13 May 2005

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

42

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

922-931

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Beta-thalassaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Alpha-thalassaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Understanding alpha globin gene expression: a step towards effective gene therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

The DNA deletion in an Indian delta beta-thalassaemia begins one kilobase from the A gamma globin gene and ends in an L1 repetitive sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Efficacy of a modified improved technique for detecting red cell haemoglobin H inclusions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

27 July 2018

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

26 September 2018

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

26 September 2018

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

26 September 2018

Novel 112 kb (epsilonGgammaAgamma) deltabeta-thalassaemia deletion 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=1735959

26 September 2018

BLAT—The BLAST-Like Alignment Tool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

26 September 2018

Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

26 September 2018

Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

26 September 2018

Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735959

26 September 2018

The 12.6 kilobase DNA deletion in Dutch beta zero-thalassaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal he

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

alpha-Thalassemia in The Netherlands: a heterogeneous spectrum of both deletions and point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel deletion of approximately 27 kb including the beta-globin gene and the locus control region 3'HS-1 regulatory sequence: beta zero-thalassemia or hereditary persistence of fetal hemoglobin?

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic polymorphism of the major regulatory element HS-40 upstream of the human alpha-globin gene cluster

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous dutch population

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A de novo deletion causing epsilon gamma delta beta-thalassemia in a Dutch patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/15894596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.033597

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

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