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Article

Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.

American journal of medical genetics. Part A - 1 Apr 2013

Speevak M D, Zeesman S, Leonard N, Nowaczyk M J

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23495039
DOI: 10.1002/ajmg.a.35828

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Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients.PMID 23495039Read ↗

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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.Semantic proximity Read ↗

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A proximal 300kb deletion further defining critical regions in 4q25 syndrome.Semantic proximity Read ↗

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature.Semantic proximity Read ↗

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.Semantic proximity Read ↗

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Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay.Semantic proximity Read ↗

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.Semantic proximity Read ↗

50 Years Ago in TheJournalofPediatrics: An Update on the Phenotypic Map of 18q Deletions.Semantic proximity Read ↗

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