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BARBARA POBER, MD
MD
Pediatrics Physician
NPI: 1497739718IndividualAccepts Medicare
Specialties, Licenses & Credentials
Clinical Cytogenetics Physician
Medical Genetics — Clinical Cytogenetics
Code: 207SC0300X
50986(MA)
Clinical Genetics (M.D.) Physician
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
50986(MA)
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
50986(MA)
CMS Specialties
PrimaryPEDIATRIC MEDICINE
Additional
MEDICAL GENETICS AND GENOMICS
Education
YALE UNIVERSITY SCHOOL OF MEDICINE
Class of 1978
Research & Publications (20)
A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.
PMID 19089858·Birth Defects Res A Clin Mol Teratol·2009
6-review
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.
PMID 18452001·J Clin Invest·2008
6-review
Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.
PMID 17639596·Am J Med Genet C Semin Med Genet·2007
5-case
Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.
PMID 17436298·Am J Med Genet C Semin Med Genet·2007
6-review
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.
PMID 16333846·Am J Med Genet A·2006
5-case
Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.
PMID 16094667·Am J Med Genet A·2005
8-other
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
PMID 18580689·Genet Med·2008
6-review
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
PMID 18553518·Am J Med Genet A·2008
5-case
Nutrient intakes in women and congenital diaphragmatic hernia in their offspring.
PMID 18181217·Birth Defects Res A Clin Mol Teratol·2008
8-other
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
PMID 17632512·Nat Genet·2007
8-other
Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and genetics.
PMID 17436306·Am J Med Genet C Semin Med Genet·2007
6-review
Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.
PMID 17436301·Am J Med Genet C Semin Med Genet·2007
6-review
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
PMID 17136396·Neurogenetics·2007
8-other
Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.
PMID 17103440·Am J Med Genet A·2006
5-case
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?
PMID 16283673·Am J Med Genet A·2005
4-observational
Discriminating power of localized three-dimensional facial morphology.
PMID 16380911·Am J Hum Genet·2005
4-observational
Fog2 is required for normal diaphragm and lung development in mice and humans.
PMID 16103912·PLoS Genet·2005
8-other
Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.
PMID 15684060·Proc Natl Acad Sci U S A·2005
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
- 185 CAMBRIDGE ST, RM 222, PARTNERS CENTER FOR HUMAN GENETICS
BOSTON, MA 02114 - Phone
- (617) 726-1561
Quick Facts
- NPI
- 1497739718
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 3
- Locations
- 1
- Years in Practice
- 48
- Publications
- 20
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