Physician
Medical Genetics
Dr. Gerald B. Schaefer, MD
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Gerald B. Schaefer works in the field of Medical Genetics. He graduated from University of Oklahoma College of Medicine. Gerald B. Schaefer, MD is a published doctor and has 100 publications published. The lastest was: 'Transcriptional regulation of MMP-9 expression in stromal cells of human giant cell tumor of bone by tumor necrosis factor-alpha.'
Publications
- Lessons from a pair of siblings with BPAN.
- Bilateral familial nevus of Ota.
- Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature.
- Adults' perceptions of genetic counseling and genetic testing.
- Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
- Quantitative cranial magnetic resonance imaging in neonatal hypoxic-ischemic encephalopathy.
- Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
- Response to ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine, July 2010, volume 12, number 7, pages 446-463 and 464-470.
- Molecular analysis expands the spectrum of phenoTypes associated with GLI3 mutations.
- Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain.
- Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.
- Practical applications of telemedicine for pediatricians.
- Low adherence to national guidelines for thyroid screening in Down syndrome.
- Cleft lip and palate: association with other congenital malformations.
- Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputations.
- Advances in clinical genetics. Part IV. Introduction.
- Genetic evaluation of autism.
- Genetics considerations in cerebral palsy.
- Knowledge and beliefs about genetics and smoking among visitors and staff at a health care facility.
- Genetics evaluation for the etiologic diagnosis of autism spectrum disorders.
- Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders.
- Speech-language characteristics of children with Sotos syndrome.
- Craniofacial and acral growth responses in growth hormone-deficient children treated with growth hormone.
- Hypotonia, congenital hearing loss, and hypoactive labyrinths.
- Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease Type II: results of a phase I/II clinical trial.
- Clinical genetics in pediatric physical therapy practice? The future.
- Interleukin-1beta upregulates MMP-9 expression in stromal cells of human giant cell tumor of bone.
- Hypothalamic dysfunction with polydactyly and hypoplastic nails.
- Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
- Identical twins discordant for Sotos syndrome.
- Turner syndrome.
- Kabuki syndrome.
- Medical genetic evaluation for the etiology of hearing loss in children.
- Does selection bias determine the prevalence of the cavum septi pellucidi?
- Volumetric neuroimaging in Usher syndrome: evidence of global involvement.
- Oto-palatal-digital syndromes.
- Accelerated linear growth and advanced bone age in Sotos syndrome is not associated with abnormalities of collagen metabolism.
- Radiological findings in developmental delay.
- Cavum septi pellucidi and cavum vergae in normal and developmentally delayed populations.
- Craniofrontonasal dysplasia.
- Oculo-auriculo-vertebral spectrum.
- Van der Woude syndrome.
- Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
- Oral-facial-digital syndrome Type I.
- Stickler syndrome.
- Robin sequence.
- Macrocerebellum: neuroimaging and clinical features of a newly recognized condition.
- Cerebral arteriovenous malformation in three successive generations.
- The neuroimaging findings in Sotos syndrome.
- Marshall-Stickler phenoType associated with von Willebrand disease.
- Gene testing for cancer susceptibility.
- Size of the corpus callosum in cerebral palsy.
- Incidental pineal cysts in a prospectively ascertained normal cohort.
- Hypoplasia of the cerebellar vermis in neurogenetic syndromes.
- Cerebral palsy--an update. Part II: Clinical presentation and early intervention.
- Cerebral palsy--an update. Part I: Classification and etiology.
- Familial inverted duplication 7p.
- Neuroendocrine and neurophysiologic changes of adolescence.
- Evaluation of the patient with idiopathic mental retardation.
- Postterm closure of the cavum septi pellucidi and developmental outcome in premature infants.
- Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies.
- Hypoplastic corpus callosum in ocular albinism: indication of a global disturbance of neuronal migration.
- Partial agenesis of the anterior corpus callosum: correlation between appearance, imaging, and neuropathology.
- Hypoplasia of the corpus callosum: a study of 445 consecutive MRI scans.
- Expression of 72 kDa and 92 kDa Type IV collagenases from human giant-cell tumor of bone.
- Macro cisterna magna: a marker for maldevelopment of the brain?
- Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies.
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.
- Wide cavum septum pellucidum: a marker of disturbed brain development.
- Quantitative morphometric analysis of brain growth using magnetic resonance imaging.
- Age-related changes in the relative growth of the posterior fossa.
- Ontogeny and physiology of the cavum septum pellucidum in premature infants.
- Clinical and morphometric analysis of the hypoplastic corpus callosum.
- Evaluation of the child with idiopathic mental retardation.
- Computed tomography and magnetic resonance imaging in late-onset globoid cell leukodystrophy (Krabbe disease).
- Subtle anomalies of the septum pellucidum and neurodevelopmental deficits.
- Regulation of MMP-9 (92 kDa Type IV collagenase/gelatinase B) expression in stromal cells of human giant cell tumor of bone.
- Clinical variability of tetrasomy 12p.
- Neurogenetic aspects of communication disorders.
- Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
- Cerebral dysgenesis. An overview.
- Dementia pugilistica and cavum septi pellucidi: born to box?
- Neuroimaging findings in Alexander's disease.
- Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenoType.
- Lipids and apolipoproteins in growth hormone-deficient children during treatment.
- Transcriptional regulation of MMP-9 expression in stromal cells of human giant cell tumor of bone by tumor necrosis factor-alpha.
- Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
- Dominantly inherited childhood gigantism resembling Sotos' syndrome.
- Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects.
- Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and...
- Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.
- Elastin and fibrillin mRNA and protein levels in the ontogeny of normal human aorta.
- Acidophil stem-cell pituitary adenoma in a prepubescent female. Case report.
- Introduction to the newborn screening fact sheets.
- Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome.
- Agnathia, holoprosencephaly, and situs inversus: report of a case.
- Idiopathic hypothalamic dysfunction with precocious puberty and adipsic hypernatremia first presenting in adolescence.
- Management and outcome of two pregnancies in a woman with craniodiaphyseal dysplasia.
Schools
University of Oklahoma Health Sciences Center
Conditions Treated
- Diabetes Type 2
- Hyperlipidemia
- Hyperthyroidism
- Hyposmolality and Hyponatremia
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Doctors Specialties
- Pediatric Endocrinology
- Medical Genetics
Accepted Insurances
Education
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University of Oklahoma Health Sciences Center -
University of Oklahoma College of Medicine
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