A chromosomal deletion map of human malformations. (Q34387317)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

A chromosomal deletion map of human malformations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

Brewer C

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Holloway S

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Zawalnyski P

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Schinzel A

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

language of work or name

English

0 references

publication date

1 October 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

5 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

1153-1159

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

Chromosomal deletion complexes in mice by radiation of embryonic stem cells

5 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

The future of genetic studies of complex human diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

The molecular basis of genetic dominance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Autosomal imbalance syndromes: genetic interactions and the origin of congenital malformations in aneuploidy syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

The conceptual bases for the phenotypic mapping of conditions resulting from aneuploidy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

The Study of Human Twins in Medical Research

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Congenital malformations (second of two parts).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Segmental aneuploidy and the genetic gross structure of the Drosophila genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Racial and prenatal factors in major congenital malformations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Can familial aggregation of disease be explained by familial aggregation of environmental risk factors?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Analysing rearrangement breakpoint distributions by means of binomial confidence intervals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Genetic aspects of admissions to a paediatric intensive care unit

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Contiguous deletion syndromes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

The human PAX6 gene is mutated in two patients with aniridia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

The frequency and financial burden of genetic disease in a pediatric hospital

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

A database for mouse development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377474

Overview of the National Infant Mortality Surveillance (NIMS) project

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9758599

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The contribution of chromosome aberrations to the precision of human gene mapping

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9758599

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302041

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9758599%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

PubMed publication ID

9758599

1 reference