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ISIS BARTELS, MD

MD

Pediatrics Physician

NPI: 1255407417Individual

Specialties, Licenses & Credentials

Pediatrics PhysicianPrimary

Pediatrics

Code: 208000000X

028369(CT)

Research & Publications (20)

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.
PMID 19284615·Mol Cytogenet·2009
8-other
The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible.
PMID 18694461·Transfusion·2008
3-trial
Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature.
PMID 18391547·Sex Dev·2007
5-case
Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints.
PMID 17487417·Int J Mol Med·2007
8-other
Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.
PMID 17431920·Am J Med Genet A·2007
8-other
Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q.
PMID 16506277·Prenat Diagn·2006
5-case
Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion.
PMID 16419136·Am J Med Genet A·2006
5-case
Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay.
PMID 16007665·Am J Med Genet A·2005
5-case
Fetal alcohol syndrome in association with Rett syndrome.
PMID 15287421·Genet Couns·2004
5-case
First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome.
PMID 15103719·Am J Med Genet A·2004
5-case

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

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Contact & Hours

Address
1563 POST ROAD EAST
WESTPORT, CT 06880

Quick Facts

NPI
1255407417
Entity Type
Individual
Gender
Female
Medicare
Not confirmed
Specialties
1
Locations
1
Publications
20

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