Professor of Clinical Genetics, Oregon Health and Sci University
Medical Genetics
Dr. Susan Hayflick, MD
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Susan Hayflick is an expert in the field of Medical Genetics. She researched medicine at Penn State College of Medicine. She over the years received 2 awards: "CMS Meaningful Use Stage 1 Certification" and "Portland Monthly Magazine". Susan Hayflick is a published MD as well. She has 76 publications published. The latest was: Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. Susan Hayflick accepts Medicare.
Publications
- Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
- Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a Young Female With Mild Cognitive Delay.
- Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation.
- Thoracic Aortic Aneurysm Frequency and Dissection are Associated with Fibrillin-1 Fragment Concentrations in Circulation.
- Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration.
- β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
- Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
- New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN.
- Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
- Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
- Acute infantile cardiomyopathy as a presenting feature of mucopolysaccharidosis VI.
- Kinetic and quantitative measurements of catecholamine transport in chromaffin ghosts using a glassy carbon electrode.
- Net uptake of catecholamines into isolated chromaffin granules demonstrated by a novel polarographic technique.
- Mechanisms of accumulation of tyramine, metaraminol, and isoproterenol in isolated chromaffin granules and ghosts.
- The challenge of integrating genetic medicine into primary care.
- Pantothenate kinase 2 mutation without ''eye-of-the-tiger'' sign.
- Infantile neuroaxonal dystrophy: what''s most important for the diagnosis?
- Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration.
- Measurement of brain iron distribution in Hallevorden-Spatz syndrome.
- Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration.
- Expression of PLA2G6 in human fetal development: Implications for infantile neuroaxonal dystrophy.
- Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.
- Microenvironmental regulation by fibrillin-1.
- As iron goes, so goes disease?
- Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.
- Genetics of neurodegeneration with brain iron accumulation.
- Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
- Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse.
- Characterization of the human PANK2 promoter.
- Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation.
- Dystonia-parkinsonism disease gene discovery: expect surprises.
- Clinical and genetic delineation of neurodegeneration with brain iron accumulation.
- Neurodegeneration associated with genetic defects in phospholipase A(2).
- T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.
- Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration.
- Mutations in PLA2G6 and the riddle of Schindler disease.
- Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).
- Neurodegeneration with brain iron accumulation: from genes to pathogenesis.
- PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
- Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.
- PANK2 mutation screening recommended to confirm diagnosis of pantothenate kinase-associated neurodegeneration.
- Spontaneous murine neuroaxonal dystrophy: a model of infantile neuroaxonal dystrophy.
- Neurodegeneration with brain iron accumulation.
- A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.
- Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
- Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
- Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.
- Role of primary care providers in the delivery of genetics services.
- Postmortem molecular screening in unexplained sudden death.
- Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.
- Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration.
- Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.
- Progressive dystonia in a 12-year-old boy.
- Pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
- Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brother with homozygous mutation in PANK 2 gene.
- Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
- In reference to the Short Communication published by Ni et al.
- HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
- Will the learners be learned?
- First scientific workshop on Hallervorden-Spatz syndrome: executive summary.
- Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome.
- hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA.
- A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
- Primary care physicians' utilization and perceptions of genetics services.
- Mutations in GJB6 cause hidrotic ectodermal dysplasia.
- Acute neurologic decompensation in an infant with cobalamin deficiency exposed to nitrous oxide.
- Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
- Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chor...
- Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.
- Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13.
- Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.
- Medical school core curriculum in genetics.
- Neurofibromatosis 1: recognition and management of associated neuroblastoma.
- Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.
- Cobalamin C defect associated with hemolytic-uremic syndrome.
Schools
Pa State Univ Coll Of Med
Maine Med Center
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- CMS Meaningful Use Stage 1 Certification
- Portland Monthly Magazine
Education
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Maine Medical Center -
Penn State College of Medicine
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1538174057 |
| Last Name Of The Provider | HAYFLICK |
| First Name Of The Provider | SUSAN |
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