(Q35247605)

7 August 2017

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21. (English)

1 reference

7 August 2017

7

J F Gusella

1 reference

7 August 2017

M C Phelan

1

1 reference

7 August 2017

C C Morton

2

1 reference

7 August 2017

R E Stevenson

3

1 reference

7 August 2017

R E Tanzi

4

1 reference

7 August 2017

G D Stewart

5

1 reference

7 August 2017

P C Watkins

6

1 reference

7 August 2017

J A Amos

8

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 October 1988

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

43

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7 August 2017

511-519

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7 August 2017

4

1 reference

A new R-banding technique in clinical cytogenetics

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Localization of the beta-globin gene by chromosomal in situ hybridization.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

21 monosomy in a retarded female infant

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Isolation of polymorphic DNA segments from human chromosome 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Trisomy 21 (Down syndrome): studying nondisjunction and meiotic recombination by using cytogenetic and molecular polymorphisms that span chromosome 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

High Resolution of Human Chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Full monosomy 21: a clinically recognizable syndrome?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Restriction endonuclease mapping of the human γ globin gene loci

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715513

A rapid banding technique for human chromosomes

26 September 2018

1 reference

12 December 2020

An 18p21q Translocation in a Patient With Presumptive "Monosomy G"

1 reference

12 December 2020

Monosomy of a "G" autosome in a 22-year-old female

1 reference

12 December 2020

A male infant with monosomy 21

1 reference

12 December 2020

Letter: Does full monosomy 21 exist? A comment to the paper: A male infant with monosomy 21 by Y. Kaneko, T. Ikeuchi, M. Sasaki, Y. Satake and S. Kuwajima Humangenetik 29, 1-7 (1975)

1 reference

12 December 2020

A female infant with monosomy 21

1 reference

12 December 2020

Monosomy 21: A possible stepwise evolution of the karyotype

1 reference

12 December 2020

Monosomy 21: a new case confirmed by in situ hybridization

1 reference

12 December 2020

Study of a patient with apparent monosomy 21 owing to translocation: 45,XX,21–,t(18q+)

1 reference

12 December 2020

Identifiers

PMCID

1715513

1 reference

7 August 2017

1 reference