Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

[1]  W. Reardon,et al.  Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. , 2000, Human molecular genetics.

[2]  J. Hurst,et al.  Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification , 2000, Nature Genetics.

[3]  R. Maas,et al.  Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation , 2000, Nature Genetics.

[4]  R. Wisdom,et al.  Site-specific Heterodimerization by Paired Class Homeodomain Proteins Mediates Selective Transcriptional Responses* , 1999, The Journal of Biological Chemistry.

[5]  F. Pierelli,et al.  Molecular and clinical examination of an Italian DEFECT 11 family , 1999, European Journal of Human Genetics.

[6]  T. Vogt,et al.  Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly. , 1998, Development.

[7]  G. Evans,et al.  Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome. , 1998, American journal of medical genetics.

[8]  R. Wisdom,et al.  Alx-4: cDNA cloning and characterization of a novel paired-type homeodomain protein. , 1997, Gene.

[9]  M. Magnuson,et al.  Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. , 1997, Development.

[10]  R. Maxson,et al.  The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. , 1996, Human molecular genetics.

[11]  B. D. de Vries,et al.  Positional cloning of a gene involved in hereditary multiple exostoses. , 1996, Human molecular genetics.

[12]  M. Lovett,et al.  The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes , 1996, Nature Genetics.

[13]  L. Shaffer,et al.  Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. , 1996, American journal of human genetics.

[14]  L. Shaffer,et al.  Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). , 1996, American journal of medical genetics.

[15]  E. Jabs,et al.  A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis , 1993, Cell.

[16]  D. Ledbetter,et al.  Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. , 1993, American journal of medical genetics.

[17]  A. Schinzel Microdeletion syndromes, balanced translocations, and gene mapping. , 1988, Journal of medical genetics.

[18]  R. Schmickel Contiguous gene syndromes: a component of recognizable syndromes. , 1986, The Journal of pediatrics.

[19]  P. F. Forsthoefel The embryological development of the effects of Strong's luxoid gene in the mouse , 1963, Journal of morphology.