Medical Genetics

Dr. Elizabeth M. Rohlfs, PHD

Elizabeth Rohlfs works in the field of Medical Genetics. Elizabeth Rohlfs is a published MD. She published 32 publications, including: 'Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis.'

Publications

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
Cystic fibrosis carrier testing in an ethnically diverse US population.
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.
Differences in SMN1 allele frequencies among ethnic groups within North America.
Development of genomic reference materials for cystic fibrosis genetic testing.
Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.
Consensus characterization of 16 FMR1 reference materials: a consortium study.
Development of genomic reference materials for Huntington disease genetic testing.
Genetically characterized positive control cell lines derived from residual clinical blood samples.
Developing a sustainable process to provide quality control materials for genetic testing.
Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses.
Simultaneous detection of multiple point mutations using allele-specific oligonucleotides.
CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina.
Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer.
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
In-frame deletions of BRCA1 may define critical functional domains.
Tissue gene expression analysis using arrayed normalized cDNA libraries.
An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American population.
HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis.
Depressed expression of adipocyte beta-adrenergic receptors is a common feature of congenital and diet-induced obesity in rodents.
Is the hemochromatosis gene a modifier locus for cystic fibrosis?
Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis.
Analytical and clinical evaluation of refractive index-matched anomalous diffraction (RIMAD) for assessment of fetal lung maturation.
Regulation of the uncoupling protein gene (Ucp) by beta 1, beta 2, and beta 3-adrenergic receptor subtypes in immortalized brown adipose cell lines.
Age-dependent changes in beta-adrenergic receptor subtypes and adenylyl cyclase activation in adipocytes from Fischer 344 rats.
Impaired expression and functional activity of the beta 3- and beta 1-adrenergic receptors in adipose tissue of congenitally obese (C57BL/6J ob/ob) mice.
Lipid synthesis and secretion by primary cultures of rat mammary epithelial cells.
Glycerophosphocholine and phosphocholine are the major choline metabolites in rat milk.

Doctors Specialties

Clinical Molecular Genetics
Medical Genetics

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