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FLORENCE MANSON, MD
MD
Specialist
NPI: 1306891312Individual
Specialties, Licenses & Credentials
SpecialistPrimary
Specialist
Code: 174400000X
25MA04085000(NJ)
Research & Publications (17)
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
PMID 19481195·Am J Hum Genet·2009
8-other
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
PMID 18611979·J Med Genet·2009
8-other
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
PMID 18425797·Hum Mutat·2008
7-preclinical
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
PMID 18179881·Am J Hum Genet·2008
8-other
Anterior sacral meningocele: management in gynecological practice.
PMID 17787029·Ultrasound Obstet Gynecol·2007
5-case
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
PMID 17668379·Am J Hum Genet·2007
5-case
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.
PMID 17638818·Br J Ophthalmol·2007
5-case
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.
PMID 17517692·Hum Mol Genet·2007
7-preclinical
Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.
PMID 16916875·Br J Ophthalmol·2007
8-other
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?
PMID 16488969·Br J Ophthalmol·2006
5-case
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
PMID 16458719·Am J Ophthalmol·2006
5-case
Developmental and tissue expression of Xenopus laevis RPGR.
PMID 16384984·Invest Ophthalmol Vis Sci·2006
7-preclinical
RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
PMID 15772089·Hum Mol Genet·2005
7-preclinical
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
PMID 15452077·Invest Ophthalmol Vis Sci·2004
8-other
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
PMID 15141358·Am J Hum Genet·2004
8-other
[Mechanisms of the stagnation of dilatation in the active phase of labor].
PMID 12043502·Gynecol Obstet Fertil·2002
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
- 817 FEDERAL ST
CAMDEN, NJ 08103 - Phone
- (856) 541-9811
Quick Facts
- NPI
- 1306891312
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 17
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