(Q35198385)

English

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex

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scholarly article

1 reference

Europe PubMed Central

7 August 2017

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex (English)

1 reference

Europe PubMed Central

7 August 2017

Andrew Oliver Mungo Wilkie

1

1 reference

Europe PubMed Central

7 August 2017

author name string

Zeitlin HC

2

1 reference

Europe PubMed Central

7 August 2017

Lindenbaum RH

3

1 reference

Europe PubMed Central

7 August 2017

Buckle VJ

4

1 reference

Europe PubMed Central

7 August 2017

Fischel-Ghodsian N

5

1 reference

Europe PubMed Central

7 August 2017

Chui DH

6

1 reference

Europe PubMed Central

7 August 2017

Gardner-Medwin D

7

1 reference

Europe PubMed Central

7 August 2017

MacGillivray MH

8

1 reference

Europe PubMed Central

7 August 2017

Weatherall DJ

9

1 reference

Europe PubMed Central

7 August 2017

Higgs DR

10

1 reference

Europe PubMed Central

7 August 2017

language of work or name

0 references

publication date

1 June 1990

1 reference

Europe PubMed Central

7 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

7 August 2017

46

1 reference

Europe PubMed Central

7 August 2017

6

1 reference

Europe PubMed Central

7 August 2017

1127-1140

1 reference

Europe PubMed Central

7 August 2017

Mutation in an intervening sequence splice junction in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Embryonic testicular regression syndrome and severe mental retardation in sibs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Function of a new globin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Long range genome structure around the human alpha-globin complex analysed by PFGE.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Non-methylated CpG-rich islands at the human alpha-globin locus: implications for evolution of the alpha-globin pseudogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

A new hypervariable marker for the human alpha-globin gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Isolation and mapping of a polymorphic DNA sequence (pCMM65) on chromosome 16 [D16S84]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

A review of the molecular genetics of the human alpha-globin gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

Human α-globin gene expression following chromosomal dependent gene transfer into mouse erythroleukemia cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

13 July 2018

HAEMOGLOBIN BART'S AND H IN A SWEDISH BOY.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

26 September 2018

Alpha-thalassaemia caused by a polyadenylation signal mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683828

26 September 2018

Normal long-term survival with alpha-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The duplicated human α-globin genes: Their relative expression as measured by RNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features and molecular analysis of acquired hemoglobin H disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin Inclusions in Heterozygous Alpha-Thalassemia According to Their Alpha-Globin Genotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Initiation codon mutation as a cause of alpha thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene distribution and nucleotide sequence organization in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Action of leucine zippers

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Selective expression within the human alpha globin gene complex following chromosome-dependent transfer into diploid mouse erythroleukaemia cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

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