A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

[1]  R. Shprintzen,et al.  Defining the clinical spectrum of deletion 22q11.2. , 2005, The Journal of pediatrics.

[2]  L. Shaffer,et al.  Microduplication and triplication of 22q11.2: a highly variable syndrome. , 2005, American journal of human genetics.

[3]  R. Shiekhattar,et al.  CECR2, a protein involved in neurulation, forms a novel chromatin remodeling complex with SNF2L. , 2005, Human molecular genetics.

[4]  J. Schouten,et al.  Two‐color multiplex ligation‐dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses , 2004, Human mutation.

[5]  J. D. den Dunnen,et al.  Genomic imbalances in mental retardation , 2004, Journal of Medical Genetics.

[6]  David Beare,et al.  Erratum: Replication timing of the human genome (Human Molecular Genetics) (2004) vol. 13 (191-202)) , 2004 .

[7]  Owen T McCann,et al.  Replication timing of the human genome. , 2004, Human molecular genetics.

[8]  E. Thorland,et al.  Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. , 2003, American journal of human genetics.

[9]  A. Graham.  Development of the pharyngeal arches , 2003, American journal of medical genetics. Part A.

[10]  J. Flint,et al.  The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. , 2003, Current opinion in genetics & development.

[11]  M. Capecchi,et al.  An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. , 2002, Development.

[12]  M. Adams,et al.  Recent Segmental Duplications in the Human Genome , 2002, Science.

[13]  Johan T den Dunnen,et al.  Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. , 2002, American journal of human genetics.

[14]  D. Zwijnenburg,et al.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.

[15]  B. Morrow,et al.  Genomic disorders on 22q11. , 2002, American journal of human genetics.

[16]  V. Papaioannou,et al.  DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1 , 2001, Nature Genetics.

[17]  P. Scambler,et al.  Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice , 2001, Nature.

[18]  Birgit Funke,et al.  TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome , 2001, Cell.

[19]  B. Roe,et al.  Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. , 2000, Human molecular genetics.

[20]  R. Shprintzen,et al.  A common molecular basis for rearrangement disorders on chromosome 22q11. , 1999, Human molecular genetics.

[21]  A. Hagemeijer,et al.  Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations. , 1992, Blood.

[22]  H. Tanke,et al.  Insights from genomic microarrays into structural chromosome rearrangements , 2005, American journal of medical genetics. Part A.

[23]  R. Shiekhattar,et al.  CECR 2 , a protein involved in neurulation , forms a novel chromatin remodeling complex with SNF 2 L , 2005 .

[24]  Ingeborg Stalmans,et al.  VEGF: A modifier of the del22q11 (DiGeorge) syndrome? , 2003, Nature Medicine.

[25]  M. Capecchi,et al.  An Fgf 8 mouse mutant phenocopies human 22 q 11 deletion syndrome , 2002 .