Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification (Q22252659)

6 February 2023

10

Alain Verloes

Alain

Verloes

1 reference

6 February 2023

3

Sylvie Tordjman

Sylvie

Tordjman

1 reference

6 February 2023

11

Delphine Héron

Delphine

Héron

1 reference

6 February 2023

4

Clarisse

Baumann

Clarisse Baumann

1 reference

6 February 2023

Lydie Burglen

5

Lydie

Burglen

1 reference

6 February 2023

Elsa Excoffier

6

Elsa

Excoffier

1 reference

6 February 2023

Gabriela Lazar

7

Gabriela

Lazar

1 reference

6 February 2023

Philippe Mazet

8

Philippe

Mazet

1 reference

6 February 2023

Nadège Pichard

2

Nadège

Pichard

1 reference

6 February 2023

Clément Pinquier

9

Clément

Pinquier

1 reference

Journal of Autism and Developmental Disorders

6 February 2023

language of work or name

English

0 references

publication date

February 2005

0 references

published in

1 reference

The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases

volume

35

0 references

issue

1

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page(s)

103-116

0 references

cites work

1 reference

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X chromosome and infantile autism

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Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

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12 December 2020

A mutation in adenylosuccinate lyase associated with mental retardation and autistic features

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12 December 2020

Two affected boys in a Rett syndrome family: clinical and molecular findings

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12 December 2020

22q13 deletion syndrome

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12 December 2020

Autistic symptoms among children and young adults with isodicentric chromosome 15

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12 December 2020

Autism is not associated with the fragile X syndrome

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12 December 2020

Autism and phenylketonuria

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12 December 2020

[Dysmorphic syndromes at birth: what to do?]

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12 December 2020

Molecular Cytogenetic Evidence for a Common Breakpoint in the Largest Inverted Duplications of Chromosome 15

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12 December 2020

A case of infantile autism associated with Down's syndrome

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12 December 2020

Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives

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12 December 2020

Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals

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Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome

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12 December 2020

Microdeletion 22q11: apropos of case of schizophrenia in an adolescent

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Phenylketonuria: an underlying etiology of autistic syndrome. A case report

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Autism and maternally derived aberrations of chromosome 15q

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Molecular and cytogenetic analyses of autism in Taiwan

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

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12 December 2020

What is associated with the fragile X syndrome?

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Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders. American Academy of Child and Adolescent Psychiatry Working Group on Quality Issues

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12 December 2020

Role of the serotonin transporter gene in the behavioral expression of autism

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12 December 2020

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

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12 December 2020

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

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12 December 2020

Phenotypic variation of tuberous sclerosis in a single extended kindred

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12 December 2020

MECP2 mutations account for most cases of typical forms of Rett syndrome.

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12 December 2020

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

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12 December 2020

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

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12 December 2020

Autism and adenylosuccinase deficiency.

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12 December 2020

Genetic counseling in autism and pervasive developmental disorders

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12 December 2020

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

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12 December 2020

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

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12 December 2020

Deletion of chromosome 2q37 and autism: a distinct subtype?

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12 December 2020

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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12 December 2020

Autism and associated medical disorders in a French epidemiological survey

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12 December 2020

UBE3A/E6-AP mutations cause Angelman syndrome

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12 December 2020

Autism, mental retardation, and chromosomal abnormalities

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12 December 2020

Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation

1 reference

12 December 2020

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency

1 reference

12 December 2020

Cohen syndrome: the clinical symptoms and stigmata at a young age.

1 reference

12 December 2020

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

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12 December 2020

Granulocytopenia in Cohen syndrome

1 reference

12 December 2020

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

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12 December 2020

An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids

1 reference

12 December 2020

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

1 reference

12 December 2020

1 reference

12 December 2020

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

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12 December 2020

Inborn errors of cholesterol biosynthesis

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12 December 2020

A case report of an autistic girl with an extra bisatellited marker chromosome

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12 December 2020

Autistic social dysfunction and Down syndrome

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12 December 2020

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12 December 2020

MECP2 mutation in a boy with language disorder and schizophrenia

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12 December 2020

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Autism in Down's syndrome: family history correlates

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12 December 2020

Interstitial deletion of (17)(p11.2p11.2) in nine patients

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12 December 2020

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12 December 2020

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

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12 December 2020

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

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12 December 2020

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12 December 2020

A form of X-linked mental retardation with marfanoid habitus

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12 December 2020

PDD and Prader-Willi syndrome

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12 December 2020

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

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12 December 2020

Hypopigmented skin alterations resembling tuberous sclerosis in normal skin

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12 December 2020

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.

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12 December 2020

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

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https://api.crossref.org/works/10.1007/S10803-004-1038-2

7 January 2021