(Q35195145)

7 August 2017

title

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. (English)

1 reference

atrioventricular septal defect

7 August 2017

1 reference

1 reference

9

1 reference

7 August 2017

Georgia Chenevix-Trench

6

object named as

Chenevix-Trench G

1 reference

7 August 2017

8

Goodship J

1 reference

7 August 2017

Wilson L

1

1 reference

7 August 2017

Curtis A

2

1 reference

7 August 2017

Korenberg JR

3

1 reference

7 August 2017

Schipper RD

4

1 reference

7 August 2017

Allan L

5

1 reference

7 August 2017

Stephenson A

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 December 1993

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

53

1 reference

7 August 2017

issue

6

1 reference

7 August 2017

page(s)

1262-1268

1 reference

Familial atrial septal defect of the primum type: a report of four cases in one sibship

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Evidence of congenital heart disease in the offspring of parents with atrioventricular defects

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Strategies for multilocus linkage analysis in humans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Efficient computations in multilocus linkage analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Comparative mapping of DNA markers from the familial Alzheimer disease and Down syndrome regions of human chromosome 21 to mouse chromosomes 16 and 17

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

TG repeat polymorphism at the D21S167 locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Continuum of overlapping clones spanning the entire human chromosome 21q.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

The recurrence risk in congenital heart disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Trisomy 16 in the mouse fetus associated with generalized edema and cardiovascular and urinary tract anomalies.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Fine structure physical mapping of the region of mouse Chromosome 10 homologous to human Chromosome 21

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682476

Increased adhesiveness of trisomy 21 cells and atrioventricular canal malformations in Down syndrome: a stochastic model

27 September 2018

1 reference

12 December 2020

Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker

1 reference

12 December 2020

Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat

1 reference

12 December 2020

The anatomy and embryology of endocardial cushion defects

1 reference

12 December 2020

Etiologic Factors in Congenital Heart Diseases

1 reference

12 December 2020

Autosomal dominant inheritance of endocardial cushion defect

1 reference

12 December 2020

Dinucleotide repeat (GT)n markers on chromosome 21

1 reference

12 December 2020

Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study

1 reference

12 December 2020

D21S210: A highly polymorphic (GT)n marker closely linked to the ?-amyloid protein precursor (APP) gene

1 reference

12 December 2020

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

1 reference

12 December 2020

Identifiers

PMC publication ID

1682476

1 reference

7 August 2017

1 reference