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

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publication date

February 2005

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published in

1 reference

https://scigraph.springernature.com/pub.10.1007/s10803-004-1038-2

volume

35

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page(s)

103-116

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issue

1

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exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10803-004-1038-2

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-004-1038-2

Autism and genetics. A decade of research

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-004-1038-2

Mental retardation: genetic findings, clinical implications and research agenda

21 January 2018

1 reference

12 December 2020

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

1 reference

12 December 2020

X-linked mental retardation with marfanoid habitus

1 reference

12 December 2020

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

1 reference

12 December 2020

Autism in Angelman syndrome: a population-based study

1 reference

12 December 2020

Autism and medical disorders: a review of the literature.

1 reference

12 December 2020

Behaviour problems in Angelman syndrome

1 reference

12 December 2020

Behavioral phenotypes: conceptual and methodological issues.

1 reference

12 December 2020

The value of investigation for genetic counselling in tuberous sclerosis

1 reference

12 December 2020

Absence of MeCP2 mutations in patients from the South Carolina autism project

1 reference

12 December 2020

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

1 reference

12 December 2020

Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey

1 reference

12 December 2020

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

1 reference

12 December 2020

Autism and tuberous sclerosis

1 reference

12 December 2020

MECP2 mutation in male patients with non-specific X-linked mental retardation.

1 reference

12 December 2020

Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin

1 reference

12 December 2020

The Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype

1 reference

12 December 2020

X chromosome and infantile autism.

1 reference

12 December 2020

Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy

1 reference

12 December 2020

Autism and Asperger's syndrome.

1 reference

12 December 2020

Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism.

1 reference

12 December 2020

Cohen syndrome: essential features, natural history, and heterogeneity

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

22q13 deletion syndrome

1 reference

12 December 2020

Autistic symptoms among children and young adults with isodicentric chromosome 15

1 reference

12 December 2020

Autism is not associated with the fragile X syndrome

1 reference

12 December 2020

Autism and phenylketonuria

1 reference

12 December 2020

[Dysmorphic syndromes at birth: what to do?]

1 reference

12 December 2020

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

1 reference

12 December 2020

A case of infantile autism associated with Down's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

1 reference

12 December 2020

Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study.

1 reference

12 December 2020

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.

1 reference

12 December 2020

Molecular screening for proximal 15q abnormalities in a mentally retarded population

1 reference

12 December 2020

The mucopolysaccharidoses: a clinical review and guide to management

1 reference

12 December 2020

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

1 reference

12 December 2020

Autism and maternally derived aberrations of chromosome 15q.

1 reference

12 December 2020

Molecular and cytogenetic analyses of autism in Taiwan.

1 reference

12 December 2020

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

1 reference

12 December 2020

The fragile X syndrome

1 reference

12 December 2020

What is associated with the fragile X syndrome?

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic variation of tuberous sclerosis in a single extended kindred

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autism and adenylosuccinase deficiency.

1 reference

12 December 2020

Genetic counseling in autism and pervasive developmental disorders.

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autism and associated medical disorders in a French epidemiological survey.

1 reference

12 December 2020

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

12 December 2020

Autism, mental retardation, and chromosomal abnormalities

1 reference

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

1 reference

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).

1 reference

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

1 reference

12 December 2020

Inborn errors of cholesterol biosynthesis

1 reference

12 December 2020

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

1 reference

12 December 2020

Autistic social dysfunction and Down syndrome.

1 reference

12 December 2020

Three probands with autistic disorder and isodicentric chromosome 15.

1 reference

12 December 2020

MECP2 mutation in a boy with language disorder and schizophrenia

1 reference

12 December 2020

Advances in molecular cytogenetics for the evaluation of mental retardation

1 reference

12 December 2020

Autism in Down's syndrome: family history correlates.

1 reference

12 December 2020

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

1 reference

12 December 2020

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

1 reference

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.

1 reference

12 December 2020

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

1 reference

12 December 2020

Case reports of autism with interstitial deletion of chromosome 17 (p11.2 p11.2) and monosomy of chromosome 5 (5pter-->5p15.3).

1 reference

12 December 2020

A form of X-linked mental retardation with marfanoid habitus

1 reference

12 December 2020

PDD and Prader-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Hypopigmented skin alterations resembling tuberous sclerosis in normal skin

1 reference

12 December 2020

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

1 reference

12 December 2020

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia

1 reference

https://api.crossref.org/works/10.1007%2FS10803-004-1038-2

7 January 2021