Michael J Friez
Affiliation: Greenwood Genetic Center
- Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28Michael J Friez
Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA
Pediatrics 118:e1687-95. 2006....
- A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
Nat Genet 39:451-3. 2007....
- Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphismKarl 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...
- Natural history of Christianson syndromeRichard 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...
- Molecular analysis of fragile x syndromeMonica 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. ..
- A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domainJules 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. ..
- Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1Monica J Basehore
Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
Genet Test Mol Biomarkers 16:465-70. 2012....
- Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repairMarijke 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...
- The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 geneCharles 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...
- A previously unreported mutation in a Currarino syndrome kindredRaymond 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...
- Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 geneStavit 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...
- A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndromeGevork 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...