(Q38124929)

29 August 2017

Making headway with genetic diagnostics of intellectual disabilities (English)

1 reference

29 August 2017

0 references

M H Willemsen

1

1 reference

PubMed ID

23895455

29 August 2017

T Kleefstra

series ordinal

2

1 reference

29 August 2017

26 August 2013

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29 August 2017

1 reference

29 August 2017

85

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29 August 2017

2

1 reference

29 August 2017

101-110

1 reference

The renaming of mental retardation: understanding the change to the term intellectual disability.

29 August 2017

1 reference

Familial mental retardation: a continuing dilemma

21 January 2018

1 reference

Genetics of early onset cognitive impairment

21 January 2018

1 reference

The epidemiology of mental retardation: challenges and opportunities in the new millennium

21 January 2018

1 reference

Prevalence of intellectual disability: a meta-analysis of population-based studies

21 January 2018

1 reference

Genetic causes of mental retardation.

21 January 2018

1 reference

Managing health problems in people with intellectual disabilities

21 January 2018

1 reference

Co-morbidity of psychiatric disorder and medical illness in people with intellectual disabilities

21 January 2018

1 reference

Comorbidity of intellectual disability and mental disorder in children and adolescents: a systematic review

21 January 2018

1 reference

Genetic investigation for adults with intellectual disability: opportunities and challenges

21 January 2018

1 reference

Genetic and epigenetic networks in intellectual disabilities.

21 January 2018

1 reference

Advances in whole-genome genetic testing: from chromosomes to microarrays

21 January 2018

1 reference

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

21 January 2018

1 reference

Genetic syndromes among individuals with mental retardation.

21 January 2018

1 reference

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

21 January 2018

1 reference

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

21 January 2018

1 reference

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

21 January 2018

1 reference

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

21 January 2018

1 reference

The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes.

21 January 2018

1 reference

Prevalence of chronic diseases in adolescents with intellectual disability.

21 January 2018

1 reference

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

21 January 2018

1 reference

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

21 January 2018

1 reference

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

21 January 2018

1 reference

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

21 January 2018

1 reference

Novel microdeletion syndromes detected by chromosome microarrays

21 January 2018

1 reference

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

21 January 2018

1 reference

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

21 January 2018

1 reference

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

21 January 2018

1 reference

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

21 January 2018

1 reference

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

21 January 2018

1 reference

Identification of disease genes by whole genome CGH arrays

21 January 2018

1 reference

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

21 January 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

1 reference

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

Exome sequencing and the genetics of intellectual disability.

21 January 2018

1 reference

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

21 January 2018

1 reference

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

21 January 2018

1 reference

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

21 January 2018

1 reference

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

21 January 2018

1 reference

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

21 January 2018

1 reference

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

21 January 2018

1 reference

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.

21 January 2018

1 reference

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

21 January 2018

1 reference

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

21 January 2018

1 reference

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

21 January 2018

1 reference

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

21 January 2018

1 reference

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

21 January 2018

1 reference

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

21 January 2018

1 reference

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 January 2018

1 reference

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

21 January 2018

1 reference

Fragile X and X-linked intellectual disability: four decades of discovery

21 January 2018

1 reference

X-linked mental retardation: many genes for a complex disorder

21 January 2018

1 reference

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

21 January 2018

1 reference

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

21 January 2018

1 reference

Homozygosity mapping in outbred families with mental retardation

21 January 2018

1 reference

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

21 January 2018

1 reference

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

21 January 2018

1 reference

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research

21 January 2018

1 reference

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

21 January 2018

1 reference

On the future of genetic risk assessment

21 January 2018

1 reference

NGS catalog: A database of next generation sequencing studies in humans

21 January 2018

1 reference

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

1 reference

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

21 January 2018

1 reference

Global variation in copy number in the human genome

21 January 2018

1 reference

Comparative studies of copy number variation detection methods for next-generation sequencing technologies

21 January 2018

1 reference

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

21 January 2018

1 reference

A genomic view of mosaicism and human disease

21 January 2018

1 reference

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

21 January 2018

1 reference

Genetic and epigenetic defects in mental retardation.

21 January 2018

1 reference

Fragile X syndrome and targeted treatment trials

21 January 2018

1 reference

MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

21 January 2018

1 reference

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12244

1 reference

release_zml7q5q26vb4zbmii655ugaywe

29 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zml7q5q26vb4zbmii655ugaywe

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

23895455

1 reference

PubMed ID

23895455