(Q43686471)

25 November 2017

title

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada. (English)

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Smith-Lemli-Opitz syndrome

25 November 2017

0 references

1 reference

Nowaczyk MJ

1

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25 November 2017

McCaughey D

series ordinal

2

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25 November 2017

Whelan DT

series ordinal

3

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25 November 2017

Porter FD

series ordinal

4

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25 November 2017

publication date

1 July 2001

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American Journal of Medical Genetics Part A

25 November 2017

published in

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25 November 2017

volume

102

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25 November 2017

issue

1

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25 November 2017

page(s)

18-20

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Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism

25 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

The Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Biochemical variants of Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

RSH (so-called Smith-Lemli-Opitz) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

21 January 2018

1 reference

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C18%3A%3AAID-AJMG1376%3E3.0.CO%3B2-E

10.1002/1096-8628(20010722)102:1<18::AID-AJMG1376>3.0.CO;2-E

21 January 2018

Identifiers

DOI

1 reference

25 November 2017

1 reference