Associate Professor of Pediatrics, USC School of Medicine
Medical Genetics
Dr. Richard G. Boles, MD
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Doctor Richard G. Boles, MD works in the field of Medical Genetics. He went to medical school at David Geffen School of Medicine at UCLA. David Geffen School of Medicine at UCLA is one of the top medical schools in the US. David Geffen School of Medicine at UCLA is ranked 13 in research and 7 in primary care medicine He has 2 awards "Whos Who in Medicine and Healthcare" and "Super Doctor". Doctor Richard G. Boles, MD is also published. He has 73 publications published. The lastest publication: "Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease.'
Publications
- Hepatoblastoma in a patient with methylmalonic aciduria.
- Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary...
- Irritable Bowel Syndrome May Be Associated with Maternal Inheritance and Mitochondrial DNA Control Region Sequence Variants.
- Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbam...
- Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
- Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
- Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.
- A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
- Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.
- FGFR mutations and plagiocephaly.
- Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
- Combined cyclic vomiting and Kearns-Sayre syndromes.
- A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation.
- Glucose concentration in 254 sudden infant death syndrome livers suggests pathophysiological heterogeneity.
- A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders.
- Maternal inheritance in cyclic vomiting syndrome.
- Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome.
- Ocular findings in geleophysic dysplasia.
- Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease.
- Quantification of mitochondrial DNA heteroplasmy by temporal temperature gradient gel electrophoresis.
- Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms.
- Beyond the serotonin hypothesis: mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders.
- Maternal inheritance in recurrent early-onset depression.
- Treatment of cyclic vomiting syndrome with co-enzyme Q10 and amitriptyline, a retrospective study.
- Should patients be screened for 12S rRNA mutations before treatment with aminoglycosides?
- Cyclic vomiting syndrome plus.
- Individual human hair mitochondrial DNA control region heteroplasmy proportions in mothers and children.
- North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition consensus statement on the diagnosis and management of cyclic vomiting syndrome.
- Mitochondrial energy depletion in depression with somatization.
- Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression.
- Mitochondrial inheritance in depression, dysmotility and migraine?
- Mitochondrial DNA analysis in clinical laboratory diagnostics.
- Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease.
- Cyclic vomiting syndrome in adults.
- Sex ratios and mitochondrial genetics in migraine.
- Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.
- Two common mitochondrial DNA polymorphisms are highly associated with migraine headache and cyclic vomiting syndrome.
- Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVS-ass...
- Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrela...
- Severe reversible cardiomyopathy in four unrelated infants associated with mitochondrial DNA D-loop heteroplasmy.
- Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.
- Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia.
- Specific high-affinity binding sites for [3H]Ro 5-4864 in rat brain and kidney.
- Allosteric modulation by diltiazem and verapamil of [3H]nitrendipine binding to calcium channel sites in rat brain.
- Temperature-dependent modulation of [3H]nitrendipine binding by the calcium channel antagonists verapamil and diltiazem in rat brain synaptosomes.
- Short-term response to dietary therapy in molybdenum cofactor deficiency.
- Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.
- Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome).
- Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.
- Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.
- Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
- Sudden death beyond SIDS.
- Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.
- Pseudomonas otitis media and bacteremia following a water birth.
- Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy.
- Cyclic vomiting syndrome and mitochondrial DNA mutations.
- Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
- Cerebral aqueductal stenosis as a presentation of deletion 6q25-qter.
- Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease.
- Cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant?
- Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis.
- Mitochondrial disease and cyclic vomiting syndrome.
- Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis.
- Glucose transporter type 1 deficiency: a study of two cases with video-EEG.
- Brain phenylalanine concentration in the management of adults with phenylketonuria.
- Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy.
- LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
- How pediatricians can improve diet and activity for overweight preschoolers: a qualitative study of parental attitudes.
- A pilot randomized controlled trial of a clinic and home-based behavioral intervention to decrease obesity in preschoolers.
- The emergency department approach to newborn and childhood metabolic crisis.
- High degree of efficacy in the treatment of cyclic vomiting syndrome with combined co-enzyme Q10, L-carnitine and amitriptyline, a case series.
- Comment on treatment of psychiatric illness in patients with mitochondrial disease.
Schools
University of California At Los Angeles
Harbor UCLA
Yale University School Of Med
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Basic HMO
- Choice Plus POS II
- Vitalidad Plus California Con Aetna
- Power Select HMO
- Blue Card PPO
- CaliforniaCare HMO
- Advantage Preferred DirectAccess Plus PPO
- Blue Cross Blue Shield of California PPO
- Pathway X Direct Access PPO
- Pathway X Guided Access HMO
- Pathway X Tiered Direct Access
- Priority Select HMO
- Select Plus HMO
- Access Plus Savenet
- Basic PPO
- Enhanced Exclusive for Small Business HMO
- Local Access Plus HMO
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- LocalPlus
- Open Access Plus
- Commercial Insurance Company
- First Health (Coventry Health Care) PPO
- Medicare Advantage PFFS
- Medicare MCR
- Molina Healthcare
- Kaiser PHCS Network PPO
- MultiPlan PPO
- PHCS Network PPO
- Heritage Signature
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
Awards
- Whos Who in Medicine and Healthcare
- Super Doctor
Education
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Harbor - UCLA Medical Center -
David Geffen School of Medicine at UCLA
Hospital
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Children's Hospital Los Angeles
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