Detailed analysis of 22q11.2 with a high density MLPA probe set - Wikidata - wikimedia - TriplyDB

Detailed analysis of 22q11.2 with a high density MLPA probe set

Detailed analysis of 22q11.2 with a high density MLPA probe set

http://www.wikidata.org/entity/Q24648626

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Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements DiGeorge Syndrome: a not so rare disease.Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome.Genotype-phenotype correlation in 22q11.2 deletion syndrome.Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome.22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.Incidental radiologic findings in the 22q11.2 deletion syndrome Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome.Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.Epithelioid sarcoma is associated with a high percentage of SMARCB1 deletions.The use of two different MLPA kits in 22q11.2 deletion syndrome.Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.Molecular diagnostics of CNS embryonal tumors.Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.Epigenetic regulation of SMARCB1 By miR-206, -381 and -671-5p is evident in a variety of SMARCB1 immunonegative soft tissue sarcomas, while miR-765 appears specific for epithelioid sarcoma. A miRNA study of 223 soft tissue sarcomas.Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts.White matter microstructural deficits in 22q11.2 deletion syndrome.Molecular diagnosis utility of multiplex ligation-dependent probe amplification.Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study.Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

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P2860

Detailed analysis of 22q11.2 with a high density MLPA probe set

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2008 nî lūn-bûn

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2008 թուականի Մարտին հրատարակուած գիտական յօդուած

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2008 թվականի մարտին հրատարակված գիտական հոդված

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2008年の論文

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Detailed analysis of 22q11.2 with a high density MLPA probe set

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Ab Errami

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B S Emanuel

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G R Jalali

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J A S Vorstman

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J Biegel

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R Vijzelaar

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T Shaikh

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P2860

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Microduplication and triplication of 22q11.2: a highly variable syndrome.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

A common molecular basis for rearrangement disorders on chromosome 22q11

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Segmental duplications and copy-number variation in the human genome.

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

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10.1002/HUMU.20640

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18033723

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