about
Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberrationNew population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0Reassessing the role of mitochondrial DNA mutations in autism spectrum disorderContribution of rare copy number variants to isolated human malformations.Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.DNA methylation abnormalities in congenital heart disease.Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity.Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.Provision of Genetic Services for Autism and its Impact on Spanish Families.A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients.Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.Deletion of TET2 gene in an acute myeloid leukemia case with a t(4;15)(q24;q26) characterized by glass needle based chromosome microdissection and oligonucleotide arrayCholine acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cordSíndrome de microdeleción 1p36Detection of novel mutations in the SMN Tudor domain in type I SMA patientsImplementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1genePrenatal diagnosis for risk of spinal muscular atrophyThe absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathyShould gamete donors be tested for spinal muscular atrophy?Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous casesSevere brain involvement in 5q spinal muscular atrophy type 0Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndromeDe novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
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