MariaABlazoMD

Clinical Genetics, Clinical Molecular Genetics

Assistant Professor, Internal Medicine, Texas A&M University College of Medicine

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Baylor College of MedicineResidency, Medical Genetics and Genomics, 2001 - 2004
CHRISTUS Health/Texas A&M University School of Medicine (Corpus Christi)Residency, Family Medicine, 1993 - 1996
The University of Texas Health Science Center at San AntonioClass of 1993

PubMed

63 citations
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
Christian P. Schaaf, Maria Blazo, Richard A. Lewis, Ross Tonini, Hidehiro Takei
Molecular Genetics and Metabolism. 2011-08-01
24 citations
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen
Genetics in Medicine. 2019-04-01
85 citations
Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1
Maria Blazo, Richard A. Lewis, Murali Chintagumpala, M. Frazier, C. McCluggage
American Journal of Medical Genetics. Part A. 2004-06-15

Journal Articles

Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype Correlation
Rachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature