(Q51849494)

English

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

scientific article published on 16 June 2010

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scholarly article

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses? (English)

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

Smith-Lemli-Opitz syndrome

1 reference

based on heuristic

inferred from title

Małgorzata Krajewska-Walasek

6

object named as

Małgorzata Krajewska-Walasek

1 reference

Europe PubMed Central

14 April 2018

Elżbieta Ciara

2

object named as

Elżbieta Ciara

1 reference

Europe PubMed Central

14 April 2018

Krystyna Chrzanowska

object named as

Krystyna Chrzanowska

4

0 references

Anna Latos-Bieleńska

5

object named as

Anna Latos-Bieleńska

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

Aleksandra Jezela-Stanek

1

object named as

Aleksandra Jezela-Stanek

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

author name string

Ewa Małunowicz

3

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

Smith-Lemli-Opitz syndrome Collaborative Group

7

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

publication date

16 June 2010

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

33 Suppl 3

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

S241-8

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

https://scigraph.springernature.com/pub.10.1007/s10545-010-9132-4

0 references

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

The Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Molecular cloning and expression of the human delta7-sterol reductase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9132-4

21 January 2018

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20556518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/20556518

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-010-9132-4

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

1 reference

Europe PubMed Central

14 April 2018

http://europepmc.org/abstract/MED/20556518

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