(Q34389824)

English

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans

scientific article

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans (English)

1 reference

Europe PubMed Central

1 August 2017

author name string

Brewer C

1

1 reference

Europe PubMed Central

1 August 2017

Holloway S

2

1 reference

Europe PubMed Central

1 August 2017

Zawalnyski P

3

1 reference

Europe PubMed Central

1 August 2017

Schinzel A

4

1 reference

Europe PubMed Central

1 August 2017

FitzPatrick D

5

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

1 June 1999

1 reference

Europe PubMed Central

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

1 August 2017

64

1 reference

Europe PubMed Central

1 August 2017

1702-1708

1 reference

Europe PubMed Central

1 August 2017

6

1 reference

Europe PubMed Central

1 August 2017

A chromosomal deletion map of human malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

The molecular basis of genetic dominance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Gain of function mutations for paralogous Hox genes: implications for the evolution of Hox gene function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

The Study of Human Twins in Medical Research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Congenital malformations (second of two parts).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Annotation: genetic effects of aneuploidy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

A note on the maternal effect mutants daughterless and abnormal oocyte in Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Segmental aneuploidy and the genetic gross structure of the Drosophila genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Racial and prenatal factors in major congenital malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Analysing rearrangement breakpoint distributions by means of binomial confidence intervals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

6 July 2018

Genetic interactions suggest that Danforth's short tail (Sd) is a gain-of-function mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

27 October 2018

Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377914

27 October 2018

[Double autosomal trisomy with 48 chromosomes (21 and 18).]

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double autosomal trisomy (D trisomy plus mongolism)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overview of the National Infant Mortality Surveillance (NIMS) project

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330358

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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