Physician
Medical Genetics
Dr. Stephen G. Kaler, MD
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Stephen Kaler practices Medical Genetics. He researched medicine at University of Rochester School of Medicine and Dentistry. Stephen Kaler is a published MD. He has 72 papers published. The most current publication "Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency."
Publications
- Menkes disease with discordant phenotype in female monozygotic twins.
- Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
- Wilson's disease and other neurological copper disorders.
- Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
- Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
- ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
- Translational research investigations on ATP7A: an important human copper ATPase.
- A Novel Two-Nucleotide Deletion in the ATP7A Gene Associated With Delayed Infantile Onset of Menkes Disease.
- L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model.
- Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
- Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin.
- Increased frequency of congenital heart defects in Menkes disease.
- ATP7A Gene Addition to the Choroid Plexus Results in Long-term Rescue of the Lethal Copper Transport Defect in a Menkes Disease Mouse Model.
- Diagnosis of copper transport disorders.
- Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.
- Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
- Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease.
- Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.
- Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
- Role of copper in human neurological disorders.
- Neonatal diagnosis and treatment of Menkes disease.
- Reducing the impact of poverty on health and human development: scientific approaches. Preface.
- Diseases of poverty with high mortality in infants and children: malaria, measles, lower respiratory infections, and diarrheal illnesses.
- Safety of intracerebroventricular copper histidine in adult rats.
- Functional copper transport explains neurologic sparing in occipital horn syndrome.
- Brachial artery aneurysms in Menkes disease.
- Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.
- Downregulation of myelination, energy, and translational genes in Menkes disease brain.
- Menkes' syndrome: ophthalmic findings.
- Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.
- Catecholamine Metabolites Affected by the Copper-Dependent Enzyme Dopamine-Beta-Hydroxylase Provide Sensitive Biomarkers for Early Diagnosis of Menkes Disease and Vira...
- Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.
- Research challenges in central nervous system manifestations of inborn errors of metabolism.
- Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography.
- Novel method for molecular detection of the two common hereditary hemochromatosis mutations.
- Metabolic and molecular bases of Menkes disease and occipital horn syndrome.
- Menkes disease.
- Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.
- Prenatal diagnosis of Menkes disease.
- Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene.
- Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.
- Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.
- Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.
- Menkes disease mutations and response to early copper histidine treatment.
- Early copper therapy in classic Menkes disease patients with a novel splicing mutation.
- Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.
- Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease.
- Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease.
- Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
- Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
- Application of a copper blotting method to the study of Menkes disease.
- Spectrum of EEG findings in Menkes disease.
- Menkes disease and occipital horn syndrome.
- Radiographic hand abnormalities in fifteen cases of Crouzon syndrome.
- Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome.
- Metacarpophalangeal pattern profile in ACPS type II (Carpenter syndrome).
- Brief clinical report: two children with de novo del(9p).
- Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.
- Hypertrichosis and congenital anomalies associated with maternal use of minoxidil.
- Fire setting and Klinefelter syndrome.
- Swallowing dysfunction in nephropathic cystinosis.
- Human manganese superoxide dismutase is readily detectable by a copper blotting technique.
- New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
- Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
- Non-random maternal X-chromosome inactivation associated with PHACES.
- Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptor.
- Genomic organization of ATOX1, a human copper chaperone.
- Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
- Internal jugular phlebectasia in Menkes disease.
- ATP7A-related copper transport diseases-emerging concepts and future trends.
- Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Schools
University Of Rochester
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Select
Education
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National Institutes of Health Clinical Center -
Tufts Medical Center -
Loyola University -
University of Rochester School of Medicine and Dentistry
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