Isolated sacral agenesis in a fetus monosomic for 7q36.1--&gt;qter (Q33679646)

28 July 2017

title

Isolated sacral agenesis in a fetus monosomic for 7q36.1-->qter (English)

1 reference

28 July 2017

N M Savage

1

1 reference

28 July 2017

N A Maclachlan

2

1 reference

28 July 2017

C A Joyce

3

1 reference

28 July 2017

I E Moore

4

1 reference

28 July 2017

J A Crolla

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

34

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28 July 2017

issue

10

1 reference

28 July 2017

page(s)

866-868

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

Case reports of malformations associated with maternal diabetes: history and critique

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

Caudal deficiency sequence in 7q terminal deletion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

Duplication of distal 19q: clinical report and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

Triad of anorectal, sacral, and presacral anomalies

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051099

Syndrome of caudal regression in infants of diabetic mothers: observations of further cases

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9350825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The American Society of Human Genetics 45th annual meeting. Minneapolis, Minnesota, October 24-28, 1995. Abstracts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9350825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sacral agenesis and caudal spinal cord malformations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9350825

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.34.10.866

1 reference

28 July 2017

1 reference

28 July 2017

1 reference