Professor, Pediatrics, Oakland University Wm Beaumont SOM
Medical Genetics
Dr. David J. Aughton, MD
|
|
Give Review
David J. Aughton, MD is an expert in the field of Medical Genetics. He has 1 awards "Super Doctor". David J. Aughton is a published doctor and has 36 publications published. The lastest was: 'Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.'
Publications
- Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. C...
- Large duplication in MTM1 associated with myotubular myopathy.
- Pseudohypoparathyroidism type 1A and morbid obesity in infancy.
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
- Further delineation of Kabuki syndrome in 48 well-defined new individuals.
- Delineation of complex chromosomal rearrangements: evidence for increased complexity.
- Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.
- Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia.
- Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
- X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.
- Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
- Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
- Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
- Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.
- Isolated bicuspid aortic valve in a newborn with Down syndrome.
- Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome.
- Marked female predilection in some syndromes associated with facial hemangiomas.
- Sonographic detection of hydrolethalus syndrome.
- Down syndrome and omphalocele: an underrecognized association.
- Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.
- Familial medial telangiectatic nevus: variant of nevus flammeus--port-wine stain.
- Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.
- Balanced reciprocal translocation mosaicism associated with an abnormal phenotype.
- Ankyloblepharon filiforme adnatum and imperforate anus.
- Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family.
- Cholelithiasis in infants with Down syndrome. Three cases and literature review.
- Familial posterior helical ear pits.
- Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.
- Single maxillary central incisor in a girl with del(18p) syndrome.
- Dizygotic twins concordant for truncus arteriosus.
- Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.
- Physical features of Prader-Willi syndrome in neonates.
- Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents.
- Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review.
- Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis.
Schools
Michigan State University
Mich State University Affil Hosps
University Conn
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Super Doctor
Education
-
Michigan State University College of Human Medicine
Helpful Reviews
Similar Doctors
|
|
Dr. Stanley S. Paras, MD |
|
|
Shalini Sethi, MB
 This Doctor is OpenDoctor Recommended.
|
|
|
Mayuri P. Gothe, MB
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Sulafa E. Roumayah-Elia, MD |
|
|
Dr. Ronald Rice, PHD |
|
|
Dr. Abdel A. Al, PHD |
|
|
Dr. Shairoz S. Manji, MD
This Doctor is OpenDoctor Recommended.
|