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Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsChimeric Genes in Deletions and Duplications Associated with Intellectual DisabilityThe Arabidopsis heavy metal P-type ATPase HMA5 interacts with metallochaperones and functions in copper detoxification of roots.Phenotype profiling of patients with intellectual disability and copy number variations.Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsIdentification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.Clinical laboratory automated urinalysis: comparison among automated microscopy, flow cytometry, two test strips analyzers, and manual microscopic examination of the urine sediments.Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion.De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.Mutation screening of AURKB and SYCP3 in patients with reproductive problems.Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndromeDuplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgeneHypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like featuresPartial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report[Infantile epileptic encephalopathy: a good genetic study should be a priority]
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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type
label
Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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prefLabel
Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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Sonia Mayo
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P21
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0000-0002-5465-7783