(Q36769336)

16 August 2017

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update (English)

1 reference

Smith-Lemli-Opitz syndrome

16 August 2017

0 references

1 reference

3

Cristan Farmer

1 reference

16 August 2017

Audrey Thurm

1

1 reference

16 August 2017

Elaine Tierney

2

1 reference

16 August 2017

Phebe Albert

4

1 reference

16 August 2017

Lisa Joseph

5

1 reference

16 August 2017

Susan Swedo

6

1 reference

16 August 2017

Simona Bianconi

7

1 reference

16 August 2017

Irena Bukelis

8

1 reference

16 August 2017

Courtney Wheeler

9

1 reference

16 August 2017

Geeta Sarphare

10

1 reference

16 August 2017

Diane Lanham

11

1 reference

16 August 2017

Christopher A Wassif

12

1 reference

16 August 2017

Forbes D Porter

13

1 reference

16 August 2017

5 April 2016

1 reference

Journal of Neurodevelopmental Disorders

16 August 2017

1 reference

16 August 2017

8

1 reference

16 August 2017

12

1 reference

Autism Spectrum Disorder, Intellectual Disability, and Delayed Walking

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Unmet needs in paediatric psychopharmacology: Present scenario and future perspectives

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

The prevalence of aggression in genetic syndromes: a review.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Malformation syndromes caused by disorders of cholesterol synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Central nervous system: cholesterol turnover, brain development and neurodegeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Brain cholesterol: long secret life behind a barrier.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

The Smith-Lemli-Opitz syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Autism traits in children and adolescents with Cornelia de Lange syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Diagnosing autism in a clinical sample of adults with intellectual disabilities: how useful are the ADOS and the ADI-R?

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Characterization of autism in young children with tuberous sclerosis complex.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Combining information from multiple sources in the diagnosis of autism spectrum disorders.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4822234

10.1186/S11689-016-9145-X

20 October 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

16 August 2017

0 references

1 reference

16 August 2017

PubMed publication ID

27053961

1 reference