(Q28206374)

Smith-Lemli-Opitz syndrome

inferred from title

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M J Nowaczyk

1

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J S Waye

series ordinal

2

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language of work or name

English

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publication date

June 2001

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published in

Clinical Genetics

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volume

59

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issue

6

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page(s)

375-86

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cites work

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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/10.1034%2FJ.1399-0004.2001.590601.X

Cholesterol metabolism in the RSH/Smith‐Lemli‐Opitz syndrome: Summary of an NICHD conference

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Molecular cloning and expression of the human delta7-sterol reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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/10.1034%2FJ.1399-0004.2001.590601.X

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

The Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

A syndrome characterized by mental retardation, short stature, craniofacial dysplasia, and genital anomalies occurring in siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Cataracts in a girl with features of the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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/10.1034%2FJ.1399-0004.2001.590601.X

Cardiovascular malformations in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Abnormal bile acids in the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Anesthetic considerations in Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Disorders of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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/10.1034%2FJ.1399-0004.2001.590601.X

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Incidence and molecular mechanism of aberrant splicing owing to a G-->C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

The product of hedgehog autoproteolytic cleavage active in local and long-range signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Incidence of Smith-Lemli-Opitz syndrome in Slovakia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Chromosome 7q: where autism meets language disorder?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

The syndrome of retardation with urogenital and skeletal anomalies in siblings

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Smith-Lemli-Opitz syndrome: further delineation of the phenotype

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Adrenal insufficiency in Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Prenatal diagnosis of Smith-Lemli-Optiz syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Possible role of flanking nucleotides in recognition of the AUG initiator codon by eukaryotic ribosomes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590601.X

7 January 2021