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MARSHALL PARTINGTON, MD
MD
Plastic Surgery Physician
NPI: 1801961388Individual
Specialties, Licenses & Credentials
Plastic Surgery PhysicianPrimary
Plastic Surgery
Code: 208200000X
MD00033458(WA)
Research & Publications (20)
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
PMID 15200506·Clin Genet·2004
5-case
Genes on the X chromosome are important in undiagnosed mental retardation.
PMID 10797424·Am J Med Genet·2000
8-other
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.
PMID 19507262·Am J Med Genet A·2009
5-case
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
PMID 19377476·Nat Genet·2009
8-other
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
PMID 18404279·Hum Genet·2008
8-other
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
PMID 18252223·Am J Hum Genet·2008
8-other
Toward a PCR-independent molecular diagnosis of veterinary and medically relevant pathogenic organisms.
PMID 19120258·Ann N Y Acad Sci·2008
7-preclinical
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation.
PMID 18070138·Clin Genet·2008
8-other
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
PMID 17668385·Am J Hum Genet·2007
5-case
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
PMID 17236139·Am J Hum Genet·2007
8-other
The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900).
PMID 16912705·Eur J Hum Genet·2006
6-review
Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox-independent mechanism.
PMID 17012253·FASEB J·2006
4-observational
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.
PMID 17186471·Am J Hum Genet·2006
5-case
A genome-wide screen identifies the evolutionarily conserved KEOPS complex as a telomere regulator.
PMID 16564010·Cell·2006
8-other
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
PMID 15185169·Am J Hum Genet·2004
8-other
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
PMID 15241480·Eur J Hum Genet·2004
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 8309 165TH AVE NE, SUITE 101
REDMOND, WA 98052 - Phone
- (425) 883-2294
Quick Facts
- NPI
- 1801961388
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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