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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
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
Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation.
PMID 14610348·Cytogenet Genome Res·2003
5-case
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification.
PMID 13680362·Hum Genet·2003
8-other
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.
PMID 12746416·J Med Genet·2003
5-case
A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism.
PMID 12725591·Genet Couns·2003
5-case
A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis.
PMID 12584434·Cytogenet Genome Res·2002
5-case
Additional dark G-band in the p-arm of chromosome 19 due to a paracentric inversion with a breakpoint in the pericentromeric heterochromatin.
PMID 11568924·Am J Med Genet·2001
5-case
Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26).
PMID 11471178·Am J Med Genet·2001
5-case
Biochemical screening for chromosomal disorders and neural tube defects (NTD): is adjustment of maternal alpha-fetoprotein (AFP) still appropriate in insulin-dependent diabetes mellitus (IDDM)?
PMID 11360279·Prenat Diagn·2001
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
- 1563 POST ROAD EAST
WESTPORT, CT 06880 - Phone
- (203) 319-3939
Quick Facts
- NPI
- 1255407417
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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