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MICHAEL FRIEZ, PH.D., FACMG

PH.D., FACMG

Clinical Molecular Genetics Physician

NPI: 1225054349Individual

Specialties, Licenses & Credentials

Clinical Molecular Genetics PhysicianPrimary

Medical Genetics — Clinical Molecular Genetics

Code: 207SG0203X

2002034(SC)

Research & Publications (20)

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
PMID 17088400·Pediatrics·2006
8-other
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.
PMID 10982179·Hum Genet·2000
4-observational
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
PMID 19617216·J Med Genet·2010
8-other
Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
PMID 18805826·J Med Genet·2009
8-other
Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
PMID 19610084·Am J Med Genet A·2009
5-case
Fragile X syndrome detection in newborns-pilot study.
PMID 18813135·Genet Med·2008
8-other
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
PMID 18973276·Am J Med Genet A·2008
8-other
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders.
PMID 18698615·Am J Med Genet A·2008
6-review
Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
PMID 18691967·Mol Cell·2008
8-other
Expansion of the ARX spectrum.
PMID 18462864·Clin Neurol Neurosurg·2008
5-case
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
PMID 18385275·Genome Res·2008
8-other
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
PMID 17895900·Eur J Hum Genet·2008
8-other
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
PMID 17334363·Nat Genet·2007
8-other
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
PMID 17369503·J Med Genet·2007
4-observational
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.
PMID 16909387·Am J Hum Genet·2006
8-other
A previously unreported mutation in a Currarino syndrome kindred.
PMID 16906559·Am J Med Genet A·2006
5-case
Early progressive encephalopathy in boys and MECP2 mutations.
PMID 16832102·Neurology·2006
4-observational
Expanding the phenotypic spectrum of L1CAM-associated disease.
PMID 16650080·Clin Genet·2006
5-case
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
PMID 16353258·Am J Med Genet A·2006
8-other
Parkinsonism, dysautonomia, and intranuclear inclusions in a fragile X carrier: a clinical-pathological study.
PMID 16250026·Mov Disord·2006
5-case

Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.

Contact & Hours

Address
125 GREGOR MENDEL CIR
GREENWOOD, SC 29646

Location

Practice Location

125 GREGOR MENDEL CIR, GREENWOOD, SC
(864) 941-8100

Quick Facts

NPI
1225054349
Entity Type
Individual
Gender
Male
Medicare
Not confirmed
Specialties
1
Locations
1
Publications
20

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