Professor, Pediatrics, Wayne State University School of Medicine
Medical Genetics
Dr. David Stockton, MD
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David Stockton practices Medical Genetics. He researched medicine at Baylor College of Medicine. David Stockton is a published doctor. He has 64 publications published. The most current publication "A novel locus for Leber congenital amaurosis on chromosome 14q24." David Stockton, MD accepts all Medicare patients.
Publications
- Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn.
- An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.
- Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
- Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2.
- Loss of heterozygosity occurs via mitotic recombination in Trp53+/- mice and associates with mammary tumor susceptibility of the BALB/c strain.
- A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.
- The fibroblast growth factor receptor-4 Arg388 allele is associated with prostate cancer initiation and progression.
- Expanding the phenotype of alveolar capillary dysplasia (ACD).
- A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.
- Genetic association analysis of chronic mountain sickness in an Andean high-altitude population.
- Congenital polycythemias/erythrocytoses.
- Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
- Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis.
- Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
- Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
- Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
- Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
- A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.
- Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
- Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
- Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
- Endemic polycythemia in Russia: mutation in the VHL gene.
- Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
- Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
- Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
- Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease.
- Functional genetic analysis of mouse chromosome 11.
- Search for genetic determinants of individual variability of the erythropoietin response to high altitude.
- The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.
- Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
- Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
- Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
- Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
- A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.
- Fatal acute encephalopathy in two siblings: A distinct hereditary entity?
- Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
- A novel locus for Leber congenital amaurosis on chromosome 14q24.
- Mutation of PAX9 is associated with oligodontia.
- Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modi...
- Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.
- Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
- Clinical, radiographic, and genetic evaluation of a novel form of autosomal-dominant oligodontia.
- Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review.
- Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
- Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.
- Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome.
- Isolation and characterization of mouse-human microcell hybrid cell clones permissive for infectious HIV particle release.
- Forewarned is forearmed--benefits of preparatory information on video cassette for patients receiving chemotherapy or radiotherapy--a randomised controlled trial.
- Mechanistic comparison of human high-affinity copper transporter 1-mediated transport between copper ion and cisplatin.
- Delayed diagnosis of Friedreich's ataxia due to coexisting recessive deaf/blind syndrome.
- Population-based survival trends for leukaemia in East Anglia, United Kingdom.
- Cancer prevalence in the UK: results from the EUROPREVAL study.
- Parental occupation at periconception: findings from the United Kingdom Childhood Cancer Study.
- Retrospective study of reasons for improved survival in patients with breast cancer in east Anglia: earlier diagnosis or better treatment.
- What if cancer survival in Britain were the same as in Europe: how many deaths are avoidable?
- Advanced obstetrical training for family physicians: the future hope for rural obstetrical care.
- Risk of cancer in patients with dermatomyositis or polymyositis, and follow-up implications: a Scottish population-based cohort study.
- Seasonality in the diagnosis of acute lymphocytic leukaemia.
- Geographical clustering of acute adult leukaemia in the East Anglian region of the United Kingdom: a registry-based analysis.
- Patients'' preferences for video cassette recorded information: effect of age, sex and ethnic group.
- Evidence for an association between cutaneous malignant melanoma and lymphoid malignancy: a population-based retrospective cohort study in Scotland.
Schools
University Of Michigan Medical School
Baylor College Of Med
University Of Mi Hosps and Health Ctrs
Doctors Specialties
- Clinical Genetics
- Internal Medicine
- Medical Genetics
Accepted Insurances
Education
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Baylor College of Medicine -
University of Michigan Hospitals and Health Centers -
University of Michigan Medical School
Hospital
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DMC - Children's Hospital of Michigan
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1740296946 |
| Last Name Of The Provider | STOCKTON |
| First Name Of The Provider | DAVID |
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