ArticleAmerican journal of human genetics1997
Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 81 citations in OpenAlex.
- Identification of Genetic Modifiers of TDP-43: Inflammatory Activation of Astrocytes for Neuroinflammation.Cells · 2021Article
- Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.BMC medical genomics · 2019Article
- Seizures and X-linked intellectual disability.European journal of medical genetics · 2012Review
- Protein interactome reveals converging molecular pathways among autism disorders.Science translational medicine · 2011Article
- Filamin A regulates focal adhesion disassembly and suppresses breast cancer cell migration and invasion.The Journal of experimental medicine · 2010Article
- Genetic evaluation and counseling for epilepsy.Nature reviews. Neurology · 2010Review
- Periventricular heterotopia in common microdeletion syndromes.Molecular syndromology · 2010Article
- Fragile x mental retardation 1 and filamin a interact genetically in Drosophila long-term memory.Frontiers in neural circuits · 2010Article
- Article
- Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.European journal of human genetics : EJHG · 2009Article
- Genetic malformations of cortical development.Experimental brain research · 2006Review
- Functional disomy resulting from duplications of distal Xq in four unrelated patients.Human genetics · 2004Article
- Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.Neurogenetics · 2004Article
- Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.Journal of medical genetics · 2003Article
- Cytogenetic and molecular heterogeneity of 7q36/12p13 rearrangements in childhood AML.Leukemia · 2002Article
- Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.Human genetics · 2000Article
- News about disturbances of neuronal migration bring views to bipolar disorder.Molecular psychiatry · 2000Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bilateral periventricular nodular heterotopia (BPNH) is a malformation of neuronal migration and is characterized by nodules of heterotopic gray matter lining the lateral ventricles of the brain. The majority of BPNH patients are female and have epilepsy as a sole clinical manifestation of their disease. Familial BPNH has been mapped to Xq28 by linkage analysis. A multiple congenital anomaly-mental retardation syndrome (BPNH/MR) was recently delineated in three unrelated boys with BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. High-resolution chromosome analysis revealed a subtle abnormality of Xq28 in one of the boys with BPNH/MR syndrome. FISH with cosmids and YACs from Xq28 further characterized this abnormality as a 2.25-3.25-Mb inverted duplication. No abnormality of Xq28 was detected by G-banding or FISH in the other two boys. These data support the linkage assignment of BPNH to band Xq28 and narrow the critical region to the distal 2.25-3.25 Mb of Xq28.
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