Michael J Friez

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. ncbi request reprint 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 request reprint 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. doi request reprint 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. pmc 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 request reprint Molecular analysis of fragile x syndrome
    Monica J Basehore
    Greenwood Genetic Center, Greenwood, South Carolina
    Curr Protoc Hum Genet 80:9.5.1-9.5.19. 2014
  6. pmc A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain
    Jules G Leroy
    Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA
    Eur J Hum Genet 22:594-601. 2014
  7. doi request reprint 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
  8. pmc 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
  9. pmc 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
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications12

  1. ncbi request reprint 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 request reprint 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. doi request reprint 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. pmc 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 request reprint Molecular analysis of fragile x syndrome
    Monica J Basehore
    Greenwood Genetic Center, Greenwood, South Carolina
    Curr Protoc Hum Genet 80:9.5.1-9.5.19. 2014
    ..Curr. Protoc. Hum. Genet. 80:9.5.1-9.5.19. © 2014 by John Wiley & Sons, Inc. ..
  6. pmc A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain
    Jules G Leroy
    Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA
    Eur J Hum Genet 22:594-601. 2014
    ..This delineation strengthens the utility of the discontinuous genotype-phenotype correlation in ML II and ML IIIα/β and prompts additional studies on the tissue-specific pathogenesis in GNPT-deficient ML. ..
  7. doi request reprint 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
    ....
  8. pmc 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...
  9. pmc 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...
  10. ncbi request reprint 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...
  11. ncbi request reprint 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...
  12. ncbi request reprint 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...