Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
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Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopmentAdaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureIn sickness and in health: the role of TRAPP and associated proteins in diseaseSPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossDYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsExpression and function of NIK- and IKK2-binding protein (NIBP) in mouse enteric nervous systemMissense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyDisruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disabilityAMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability.Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndromeApplication of array-based comparative genomic hybridization to pediatric neurologic diseasesTRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotypeThe Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability.Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.Genetics of autosomal recessive intellectual disability
P2860
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P2860
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Homozygosity mapping in 64 Syr ...... el loci and high heterogeneity
@ast
Homozygosity mapping in 64 Syr ...... el loci and high heterogeneity
@en
type
label
Homozygosity mapping in 64 Syr ...... el loci and high heterogeneity
@ast
Homozygosity mapping in 64 Syr ...... el loci and high heterogeneity
@en
prefLabel
Homozygosity mapping in 64 Syr ...... el loci and high heterogeneity
@ast
Homozygosity mapping in 64 Syr ...... el loci and high heterogeneity
@en
P2093
P2860
P50
P356
P1476
Homozygosity mapping in 64 Syr ...... el loci and high heterogeneity
@en
P2093
Ahmad Abboud
Amina Ismael
Johannes Schumacher
Lutz Priebe
Mahmoud Fakher
Markus Zweier
Mohammed Ayman Al Khateeb
R Abou Jamra
Saber Hamdan
Safia Muhammad
P2860
P2888
P304
P356
10.1038/EJHG.2011.98
P407
P577
2011-06-01T00:00:00Z