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JACKIE FANTES, MD
MD
Family Medicine Physician
NPI: 1275530719Individual
Specialties, Licenses & Credentials
Research & Publications (14)
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
PMID 18374296·Am J Hum Genet·2008
4-observational
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q.
PMID 11897815·J Med Genet·2002
8-other
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
PMID 19234473·Nat Genet·2009
5-case
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.
PMID 17668377·Am J Hum Genet·2007
7-preclinical
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
PMID 16543359·Hum Mol Genet·2006
5-case
Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.
PMID 16118347·J Med Genet·2006
5-case
Identification of SATB2 as the cleft palate gene on 2q32-q33.
PMID 12915443·Hum Mol Genet·2003
4-observational
The LEF1/beta -catenin complex activates movo1, a mouse homolog of Drosophila ovo required for epidermal appendage differentiation.
PMID 11983900·Proc Natl Acad Sci U S A·2002
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 301 COLUMBIA RD
BOSTON, MA 02121 - Phone
- (617) 237-6838
Locations (5)
Quick Facts
- NPI
- 1275530719
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 5
- Publications
- 14
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