Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

Item
http://www.wikidata.org/entity/Q28246857
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotypeAnalysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypesMolecular cytogenetics and cytogenomics of brain diseases.LRP4 is critical for neuromuscular junction maintenanceDisorders caused by chromosome abnormalities.Defining ploidy-specific thresholds in array comparative genomic hybridization to improve the sensitivity of detection of single copy alterations in cell lines.Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostosesDelayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.Transcriptome analysis revealed impaired cAMP responsiveness in PHF21A-deficient human cells.Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.Evolution of anterior fontanel size in normal infants in the first year of life.A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
P2860

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

Item
http://www.wikidata.org/entity/Q28246857
description
2005 nî lūn-bûn
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2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2005 թվականի մայիսին հրատարակված գիտական հոդված
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2005年の論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年论文
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name
Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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type
label
Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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prefLabel
Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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P2093
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Construction of a natural pane ...... ed in Potocki-Shaffer syndrome
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P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P5875
P698