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George A Diaz

Professor
Genetics, Genomic Sciences and pediatrics
Icahn School of Medicine at Mount Sinai
United States of America

Professor Genetics
Biography

Certifications Clinical Genetics Clinical Focus Biotinidase Deficiency Carnitine Disorders Disorders Of Cobalamin Metabolism Disorders Of Tetrahydrobiopterin Metabolism Fatty Acid Oxidation Defects Galactosemia Glutaric Acidemia Glycogen Storage Diseases Homocystinuria Hypoglycemia Intellectual Disability Krabbe Disease Leukodystrophy Maple Syrup Urine Disease Metabolic Encephalopathy Methylmalonic Acidemia Mitochondrial Myopathy Newborn Screening Organic Acidemias Phenylketonuria Pompe Disease Propionic Acidemia Tyrosinemia Urea Cycle Defects Multi-Disciplinary Training Areas Clinical Research Education Program [CLR], Genetics and Genomic Sciences [GGS], Immunology [IMM] Education MD, S.U.N.Y., Health Science Center Residency, Pediatrics, Mount Sinai Hospital Fellowship, Human Genetics, Mount Sinai Hospital

Research Intrest

Chemokines, Chemotaxis, Genetics, Genomics, Human Genetics and Genetic Disorders, Immunology, Microtubules, Signal Transduction, Virulence Genes

List of Publications
Snyderman S, Diaz GA, Sansiricq C, Wasserstein M, Kornreich M, etal (2001) Maple Syrup Urine Disease: Identification and carrier frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 69: 863-868.
Diaz GA, Parvari R (2002) Mutation of TBCE causes the hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature Genetics 32: 448-452.
Hernandez PA, Gorlin RJ, Lukens JN, Diaz GA, Francois F, etal (2003) Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genetics 34: 70-74.
Oishi K, Diaz GA, Gelb BD, Barchi M (2004) Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Devel Biol 266: 299-309.
Diaz GA (2005) CXCR4 mutations in WHIM syndrome: a misguided immune system? [review]. Imm Reviews 203: 235-243.
Tian G, Huang MC, Cowan NJ, Diaz GA, Parvari R (2006) Cryptic out-of frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD. Proc Nat Acad Sci USA 103: 13491-13496.
Experts in United States of America
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