Associate Professor of Pediatrics, University Ariz College of Medicine

Medical Genetics

Theresa A. Grebe, MD is an expert in the field of Medical Genetics. She went to Penn State College of Medicine. She over the years received 1 awards: "Top Doctors:Arizona State". Doctor Theresa A. Grebe, MD has written publications. She has 27 publications published with PubMed. The lastest publication is: 'Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.'

Publications

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• Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
• Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
• Autism and increased paternal age related changes in global levels of gene expression regulation.
• Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
• The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
• Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
• Further delineation of Kabuki syndrome in 48 well-defined new individuals.
• Human chromosome 7: DNA sequence and biology.
• Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.
• Molecular Genetic studies of human chromosome 7 in Russell-Silver syndrome.
• Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
• 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
• Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
• A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
• Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
• Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
• Complete detection of mutations in cystic fibrosis patients of Native American origin.
• Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review.
• Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.
• 7p deletion syndrome: an adult with mild manifestations.
• Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: cytoGenetic and FISH studies using band-specific painting pro...
• Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest.
• Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?
• Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.
• Penicillin-binding protein 2b of Streptococcus pneumoniae in piperacillin-resistant laboratory mutants.
• A novel resistance mechanism against beta-lactams in Streptococcus pneumoniae involves CpoA, a putative glycosyltransferase.

Schools

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• Pennsylvania State University College Of Medicine

• University Of Arizona College Of Medicine

Conditions Treated

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• Birth Defects
• Genetic Diseases
• Learning Disabilities
• Metabolic Disorders

Doctors Specialties

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• Pediatric Medical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Top Doctors:Arizona State

Education

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• University of Arizona
• Penn State College of Medicine

Hospital

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• St. Joseph's Hospital and Medical Center
• Phoenix Children's Hospital

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