(Q62397598)

English

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

scientific article published on 01 May 2000

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

haploinsufficiency

1 reference

based on heuristic

inferred from title

holoprosencephaly

1 reference

based on heuristic

inferred from title

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Stephen W. Scherer

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

8

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

M J Nowaczyk

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M J Huggins

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

D J Tomkins

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

J A Ramsay

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

J Woulfe

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 May 2000

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

57

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

388-393

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Induction of dopaminergic neuron phenotype in the midbrain by Sonic hedgehog protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Involvement of the HLXB9 homeobox gene in Currarino syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Trisomy 2p: analysis of unusual phenotypic findings

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570510.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2000.570510.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10852374%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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