Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (Q46567117)

23 December 2017

title

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (English)

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23 December 2017

Smith-Lemli-Opitz syndrome

main subject

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based on heuristic

inferred from title

author

Filippo Maria Santorelli

object named as

F M Santorelli

14

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ORCID Public Data File 2021

author name string

M L Cardoso

1

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23 December 2017

A Balreira

2

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E Martins

3

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L Nunes

4

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A Cabral

5

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M Marques

6

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M Reis Lima

7

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J S Marques

8

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A Medeira

9

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I Cordeiro

10

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S Pedro

11

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M C Mota

12

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C Dionisi-Vici

13

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C Jakobs

15

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P T Clayton

16

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L Vilarinho

17

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publication date

14 April 2005

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23 December 2017

Molecular Genetics and Metabolism

published in

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23 December 2017

volume

85

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issue

3

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page(s)

228-235

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Disorders of cholesterol biosynthesis

cites work

1 reference

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

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

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

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RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

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Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome: rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometry

7 January 2021

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

7 January 2021

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Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens

7 January 2021

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

7 January 2021

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

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

7 January 2021

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

7 January 2021

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Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome

7 January 2021

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Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

7 January 2021

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

7 January 2021

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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

7 January 2021

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Mutations in the human DHCR7 gene

7 January 2021

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

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

7 January 2021

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Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada

7 January 2021

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Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome

7 January 2021

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Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome

7 January 2021

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

7 January 2021

1 reference

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Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases

7 January 2021

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The Smith-Lemli-Opitz syndrome

7 January 2021

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10.1016/J.YMGME.2005.02.009

7 January 2021

Identifiers

DOI

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23 December 2017

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23 December 2017