Michael J Friez

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. ncbi Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
    Michael J Friez
    Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Pediatrics 118:e1687-95. 2006
  2. ncbi A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
    Hiba Risheg
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Nat Genet 39:451-3. 2007
  3. ncbi Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism
    Karl J Franek
    Center for Molecular Studies, J C Self Research Institute of Human Genetics, Greenwood Genetic Center, South Carolina, USA
    Am J Med Genet A 155:1109-14. 2011
  4. ncbi Natural history of Christianson syndrome
    Richard J Schroer
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:2775-83. 2010
  5. ncbi Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1
    Monica J Basehore
    Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genet Test Mol Biomarkers 16:465-70. 2012
  6. ncbi Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
    Marijke Bauters
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Genome Res 18:847-58. 2008
  7. ncbi The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
    Charles E Schwartz
    J Med Genet 44:472-7. 2007
  8. ncbi A previously unreported mutation in a Currarino syndrome kindred
    Raymond Y Wang
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 140:1923-30. 2006
  9. ncbi Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene
    Stavit A Shalev
    The Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 140:162-5. 2006
  10. ncbi A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    Gevork N Mnatzakanian
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Nat Genet 36:339-41. 2004

Collaborators

Detail Information

Publications10

  1. ncbi Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
    Michael J Friez
    Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Pediatrics 118:e1687-95. 2006
    ....
  2. ncbi A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
    Hiba Risheg
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Nat Genet 39:451-3. 2007
    ....
  3. ncbi Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism
    Karl J Franek
    Center for Molecular Studies, J C Self Research Institute of Human Genetics, Greenwood Genetic Center, South Carolina, USA
    Am J Med Genet A 155:1109-14. 2011
    ..Our clinical findings better delineate the phenotypic spectrum associated with IL1RAPL1 mutations...
  4. ncbi Natural history of Christianson syndrome
    Richard J Schroer
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:2775-83. 2010
    ..Here we report on nonsense mutations in two additional families. The natural history is detailed in childhood and adult life, the similarities to Angelman syndrome confirmed, and the MRI/MRS findings documented in three affected boys...
  5. ncbi Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1
    Monica J Basehore
    Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genet Test Mol Biomarkers 16:465-70. 2012
    ....
  6. ncbi Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
    Marijke Bauters
    Human Genome Laboratory, Department for Molecular and Developmental Genetics, VIB, B 3000 Leuven, Belgium
    Genome Res 18:847-58. 2008
    ..Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements...
  7. ncbi The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
    Charles E Schwartz
    J Med Genet 44:472-7. 2007
    ..Thus, it seems that these two X-linked mental retardation syndromes are allelic, with mutations in the MED12 gene...
  8. ncbi A previously unreported mutation in a Currarino syndrome kindred
    Raymond Y Wang
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 140:1923-30. 2006
    ..This family provides additional information on the degree of intrafamilial variability associated with HLXB9 mutations...
  9. ncbi Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene
    Stavit A Shalev
    The Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 140:162-5. 2006
    ..The affected individuals in this family demonstrated clinical variability particularly in their cognitive skills, raising the question whether other genetic factors might be involved in the phenotypic evolution of ASS...
  10. ncbi A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    Gevork N Mnatzakanian
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Nat Genet 36:339-41. 2004
    ..Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome...