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AUBREY MILUNSKY, MD
MD
Clinical Genetics (M.D.) Physician
NPI: 1558456392Individual
Specialties, Licenses & Credentials
Clinical Genetics (M.D.) PhysicianPrimary
Medical Genetics — Clinical Genetics (M.D.)
Code: 207SG0201X
30222(MA)
Research & Publications (20)
Prenatal molecular diagnosis of tuberous sclerosis complex.
PMID 19254590·Am J Obstet Gynecol·2009
8-other
The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.
PMID 16302168·Prenat Diagn·2005
5-case
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.
PMID 16032769·Prenat Diagn·2005
5-case
Lies, damned lies, and medical experts: the abrogation of responsibility by specialty organizations and a call for action.
PMID 12886977·J Child Neurol·2003
6-review
A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18.
PMID 19473082·Genet Test Mol Biomarkers·2009
5-case
Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.
PMID 17894838·Clin Genet·2007
5-case
A de novo complex chromosome rearrangement involving chromosomes 2, 3, 5, 9 and 11 detected prenatally and studied postnatally by conventional cytogenetics and molecular cytogenetic analyses.
PMID 17369689·Fetal Diagn Ther·2007
8-other
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.
PMID 16778595·Genet Med·2006
8-other
Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis.
PMID 16491010·Fetal Diagn Ther·2006
3-trial
Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.
PMID 16283881·Clin Genet·2005
5-case
Gene sequencing in neonates and infants with the long QT syndrome.
PMID 16379539·Genet Test·2005
8-other
Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.
PMID 15200507·Clin Genet·2004
5-case
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.
PMID 15152344·Am J Hum Genet·2004
4-observational
Folate intake and the risk of neural tube defects: an estimation of dose-response.
PMID 12606886·Epidemiology·2003
8-other
Chromosomal anomalies among the offspring of women with gestational diabetes.
PMID 11943689·Am J Epidemiol·2002
4-observational
Molecular characterization of the TCP11 gene which is the human homologue of the mouse gene encoding the receptor of fertilization promoting peptide.
PMID 11756566·Mol Hum Reprod·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
- 700 ALBANY STREET, 4TH FLOOR SUITE 408 CENTER FOR HUMAN GENETICS
BOSTON, MA 02118 - Phone
- (516) 638-7083
Quick Facts
- NPI
- 1558456392
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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