Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (Q24647145)

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English	Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities	scientific article

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17 January 2020

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (English)

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17 January 2020

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Jonathan S Berg

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Brendan Lee

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Timothy Lotze

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Gail Kennedy

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Susan Lansky-Shafer

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Michael T Geragthy

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Saunder M Bernes

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Anne Summers

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1 December 2008

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Nature Genetics

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17 January 2020

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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Large recurrent microdeletions associated with schizophrenia

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Rare chromosomal deletions and duplications increase risk of schizophrenia

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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

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ASPM is a major determinant of cerebral cortical size

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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A 360-kb interchromosomal duplication of the human HYDIN locus

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

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Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

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Meta-analysis of brain and cranial size in schizophrenia

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Protein-truncating mutations in ASPM cause variable reduction in brain size

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Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16

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Deletions within chromosome 22q11 in familial congenital heart disease

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ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers

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Development and validation of a CGH microarray for clinical cytogenetic diagnosis

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based on heuristic

inferred from PubMed ID database lookup

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