(Q35198409)

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

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Europe PubMed Central

PubMed publication ID

7 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Andrew Oliver Mungo Wilkie

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

author name string

V J Buckle

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

P C Harris

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

J Lamb

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

N J Barton

5

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

S T Reeders

6

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

R H Lindenbaum

7

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

R D Nicholls

8

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

M Barrow

9

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

N C Bethlenfalvay

10

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

publication date

1 June 1990

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

language of work or name

0 references

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

46

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

1112-1126

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Hemoglobin H disease and multiple congenital anomalies in a child of northern European origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

The haemoglobin H disease mental retardation syndrome: molecular studies on the South African case

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

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=1683839

13 July 2018

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

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=1683839

13 July 2018

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

A genetic linkage map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

A combinatorial method for grouping cases with multiple malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

Localisation of human alpha globin to 16p13.3----pter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

Microdeletion syndromes, balanced translocations, and gene mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

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=1683839

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=1683839

13 July 2018

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

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=1683839

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=1683839

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=1683839

13 July 2018

Mapping 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=1683839

13 July 2018

Genomic imprinting and genetic disorders in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

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=1683839

13 July 2018

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

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=1683839

13 July 2018

Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

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=1683839

13 July 2018

The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

13 July 2018

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683839

26 September 2018

Alpha thalassaemia in two Spanish families

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A ring chromosome No. 16 in an infant with primary hypoparathyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemoglobin-H Disease in Association with Multiple Congenital Abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy 4p due to a paternal t(4p-;16p+) translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy 20q due to maternal t(16;20) translocation. First case

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ring chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A chromosomal survey of an institution for the mentally retarded. Study of 476 karyotypes with banding techniques and clinical assessment of patients with chromosome anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial trisomy 3q (3q25----qter) syndrome in two siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

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/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Trisomy of the distal 15q region due to familial balanced translocation t(15;16)(q24;p13) and unusual mosaicism in the mother of the proband]

1 reference

https://pubmed.ncbi.nlm.nih.gov/2339704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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