Professor, Pediatrics, University of Florida College of Medicine
Medical Genetics
Dr. Roberto T. Zori, MD
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Roberto T. Zori, MD practices Medical Genetics. Roberto T. Zori is a published physician as well. He has 66 publications published. The latest was: Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
Publications
- Exome sequencing for the diagnosis of 46,XY disorders of sex development.
- Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
- Usp7 protects genomic stability by regulating Bub3.
- A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1.
- Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
- Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
- Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
- TFAP2A mutations result in branchio-oculo-facial syndrome.
- Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.
- Diagnosis of an early precursor-B-ALL presenting with hypereosinophilia using FISH on immunomagnetically selected CD19+ cells.
- A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones.
- Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
- Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
- Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
- Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.
- Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
- Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p.
- Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
- Genetic insights into familial cancers-- update and recent discoveries.
- Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
- Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes.
- [Erythema toxicum neonatorum with pustulation versus transient neonatal pustular melanosis].
- Incidence of congenital rubella syndrome in 19 regions of Europe in 1980-1986.
- Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.
- Association of anophthalmia and esophageal atresia.
- NF1 mutation analysis using a combined heteroduplex/SSCP approach.
- In vitro selection for K562 cells with higher retrovirally mediated copy number of aldehyde dehydrogenase class-1 and higher resistance to 4-hydroperoxycyclophosphamide.
- Long-term disease control of refractory anaplastic large cell lymphoma with vinblastine.
- A new case of pure partial 7q duplication.
- Facial dysmorphism and digit anomalies in three siblings with severe developmental delay.
- Aldehyde dehydrogenase activity as a functional marker for lung cancer.
- In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8.
- Chromosome painting in the manatee supports Afrotheria and Paenungulata.
- High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.
- Telegenetic medicine: improved access to services in an underserved area.
- Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome?
- Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma.
- Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
- Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.
- Angelman syndrome.
- Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
- Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
- Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
- Cytogenetic and molecular analysis in Angelman syndrome.
- Malnutrition and hypernatremic dehydration in breast-fed infants.
- Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.
- Relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome.
- Phenocopy versus genocopy.
- Angelman syndrome: clinical profile.
- A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.
- A family with a grand-maternally derived interstitial duplication of proximal 15q.
- Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
- Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects.
- Prolonged neuromuscular block in a patient undergoing renal transplantation.
- A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX.
- Culture of cytogenetically abnormal schwann cells from benign and malignant NF1 tumors.
- Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
- Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
- Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.
- Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
- Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
- Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: case report.
- G-banded karyotype and ideogram for the North Atlantic right whale (Eubalaena glacialis).
- Locus control region elements HS2 and HS3 in combination with chromatin boundaries confer high-level expression of a human beta-globin transgene in a centromeric region.
- Translocation (X;20)(q13.1;q13.3) as a primary chromosomal finding in two patients with myelocytic disorders.
Schools
Odense Universitet
Baystate Med Center
University Fla
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Baystate Medical Center - Tufts University
Hospital
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UF Health Shands Hospital
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