(Q36695145)

15 August 2017

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe (English)

1 reference

15 August 2017

3

Maria Loane

0 references

Anna Pierini

Anna Pierini

15

0 references

Babak Khoshnood

Babak Khoshnood

13

0 references

Elizabeth S Draper

Elizabeth S Draper

11

0 references

Kari Klungsøyr

14

Kari Klungsoyr

1 reference

Christine Verellen-Dumoulin

15 August 2017

19

Christine Verellen-Dumoulin

1 reference

15 August 2017

8

Marie-Claude Addor

1 reference

15 August 2017

1

Ingeborg Barisic

1 reference

15 August 2017

12

Martin Haeusler

1 reference

15 August 2017

6

Elisa Calzolari

1 reference

15 August 2017

Annette Queisser-Luft

16

Annette Queisser-Luft

1 reference

15 August 2017

4

Ester Garne

1 reference

15 August 2017

7

Helen Dolk

1 reference

15 August 2017

18

Anke Rissmann

1 reference

15 August 2017

5

Diana Wellesley

1 reference

15 August 2017

Ljubica Boban

2

1 reference

15 August 2017

Jorieke Eh Bergman

9

1 reference

15 August 2017

Paula Braz

10

1 reference

15 August 2017

Judith Rankin

17

1 reference

15 August 2017

3 September 2014

1 reference

European Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

23

1 reference

15 August 2017

6

1 reference

15 August 2017

746-752

1 reference

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Mutations in TMEM231 cause Meckel-Gruber syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Meckel-Gruber syndrome: Report of two cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Assisted reproductive technology in Europe, 2007: results generated from European registers by ESHRE.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Meckel syndrome: what are the minimum diagnostic criteria?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

The Meckel syndrome: clinicopathological findings in 67 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

High incidence of Meckel's syndrome in Gujarati Indians

30 September 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

30 September 2017

https://api.crossref.org/works/10.1038%2FEJHG.2014.174

Meckel syndrome and neural tube defects in Kuwait

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Prenatal diagnosis of recurrent Meckel syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Meckel syndrome and the prenatal diagnosis of neural tube defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Genetics of the Meckel syndrome (dysencephalia splanchnocystica)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Magnetic resonance imaging in fetal anomalies: What does it add to 3D and 4D US?

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4795048

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.174

Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.174

The Meckel syndrome in Finland: epidemiologic and genetic aspects

21 January 2018

1 reference

12 December 2020

Survival and spectrum of anomalies in the Meckel syndrome

1 reference

12 December 2020

Phenotypic variability in Meckel-Gruber syndrome

1 reference

12 December 2020

The Meckel Syndrome. Pathological and cytogenetic observations in eight cases

1 reference

12 December 2020

Antenatal detection of Meckel-Grüber syndrome in only one dizygotic twin following in vitro fertilization and embryo transfer

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

Clinical and genetic heterogeneity in Meckel syndrome

1 reference

12 December 2020

Meckel-Grüber syndrome: sonography and pathology

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.174

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

25182137

1 reference