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2
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.
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Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.
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12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.
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A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
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Insights into morphology and disease from the dog genome project.
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Regulation of postnatal bone homeostasis by TGFβ.
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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
Am J Hum Genet. 2006 Sep;79(3):500-13. doi: 10.1086/507471. Epub 2006 Jul 25.
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13.
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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13.
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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
Eur J Hum Genet. 2006 Jun;14(6):759-67. doi: 10.1038/sj.ejhg.5201613.
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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
J Med Genet. 2006 Aug;43(8):625-33. doi: 10.1136/jmg.2005.039453. Epub 2006 Feb 20.
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Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
Hum Mutat. 2006 Mar;27(3):290. doi: 10.1002/humu.9403.
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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
PLoS Genet. 2005 Dec;1(6):e49. doi: 10.1371/journal.pgen.0010049.
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Structural variation in the human genome.
Nat Rev Genet. 2006 Feb;7(2):85-97. doi: 10.1038/nrg1767.
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Identification of disease genes by whole genome CGH arrays.
Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R215-23. doi: 10.1093/hmg/ddi268.
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Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.
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