Associate Professor, Pediatrics, Jefferson Medical College-Thos Jefferson Univ

Medical Genetics

Dr. Michael B. Bober, MD

Michael B. Bober works in the field of Medical Genetics. He went to Tulane University School of Medicine. He received awards:"Fellow (FAAP)". Michael B. Bober is a published doctor and has 20 publications published. The lastest was: 'Obstructive airway in Morquio A syndrome, the past, the present and the future.'

Publications

Obstructive airway in Morquio A syndrome, the past, the present and the future.
C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
A Unique Set of Centrosome Proteins Requires Pericentrin for Spindle-Pole Localization and Spindle Orientation.
Surgical Treatment of Scoliosis in Osteogenesis Imperfecta With Cement-augmented Pedicle Screw Instrumentation.
Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
The lower extremity in Morquio syndrome.
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.
Developing computational resources in cardiac gene expression.
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
Scott sign: a clinical measure of ligamentous laxity in achondroplastic infants.
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
CaGE: cardiac gene expression knowledgebase.
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

Schools

Tulane University School Of Medicine
Tulane University
Johns Hopkins
Tulane

Doctors Specialties

Pediatrics
Medical Genetics

Accepted Insurances

Awards

Fellow (FAAP)

Education

Tulane University
Tulane University School of Medicine

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