(Q33679876)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

title

Genetic heterogeneity of Meckel syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

Valérie Cormier-Daire

4

1 reference

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8 November 2019

Emmanuelle Génin

6

1 reference

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8 November 2019

author name string

J Roume

1

1 reference

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8 November 2019

H W Ma

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M Le Merrer

3

1 reference

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8 November 2019

D Girlich

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

A Munnich

7

1 reference

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8 November 2019

language of work or name

English

0 references

publication date

1 December 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

8 November 2019

published in

1 reference

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8 November 2019

volume

34

1 reference

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8 November 2019

issue

12

1 reference

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8 November 2019

page(s)

1003-1006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

A comprehensive genetic map of the human genome based on 5,264 microsatellites

8 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

Strategies for multilocus linkage analysis in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

The Meckel syndrome: clinicopathological findings in 67 patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

Pathology of renal and hepatic anomalies in Meckel syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

The cerebro-reno-digital syndromes: a new community

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

Cerebellocele and associated central nervous system anomalies in the Meckel syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051152

The Meckel syndrome in Finland: epidemiologic and genetic aspects

30 October 2018

1 reference

12 December 2020

Fetopathologic examination. Technique and value of placenta examination and perinatal autopsy

1 reference

12 December 2020

CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome). A case report

1 reference

12 December 2020

Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly"

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.12.1003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9429143%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

PubMed publication ID

9429143

1 reference