Director, The Neurofibromatosis Institute

Medical Genetics

Vincent M. Riccardi, MD practices Medical Genetics. He attended Georgetown University School of Medicine. Georgetown University School of Medicine has a rank of 49 in research and a 84 in primary care He over the years received 3 awards: "Von Recklinghausen Award", "Founding Fellow" and "Fellow". Vincent M. Riccardi, MD is a published MD as well. He has 100 publications published. The latest was: Familial multiple cafe au lait spots.

Publications

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• Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues.
• Update from the 2013 international neurofibromatosis conference.
• The neurofibromatosis: which one and why?
• Progressive disorders and associated complications.
• Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic.
• S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas.
• Different Patterns of Mast Cells Distinguish Diffuse From Encapsulated Neurofibromas in Patients With Neurofibromatosis 1.
• Genotype-phenotype correlations in the genomic age: Concordance in monozygous twin pairs.
• Neurofibromatosis type 1 is a disorder of dysplasia: the importance of distinguishing features, consequences, and complications.
• Hands down: reflecting on the 50th anniversary of the description of Trisomy 21.
• Diagnostic and management considerations posed by multiple café au lait spots.
• The genetic predisposition to and histogenesis of neurofibromas and neurofibrosarcoma in neurofibromatosis type 1.
• Screening school-aged children for neurofibromatosis 1: dermatology or economics and public policy?
• Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: a cohort study of 703 patients.
• Analysis of neurofibromatosis 1 (NF1) lesions by body segment.
• Military ethics and G-6-PD deficiency.
• Duplication of proximal 15q as a cause of Prader-Willi syndrome.
• A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis.
• Chromosomal abnormalities associated with congenital contractures (arthrogryposis).
• Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families.
• Report of the Task Force on Teaching Human Genetics in North American Medical Schools.
• Cell--cell interaction as an epigenetic determinant in the expression of mutant neural crest cells.
• Neurofibromatosis: variable expression is not intrinsic to the mutant gene.
• The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.
• Mapping parathyroid hormone, beta-globin, insulin, and LDH-A genes within the human chromosome 11 short arm by spot blotting sorted chromosomes.
• The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.
• The Perlman familial nephroblastomatosis syndrome.
• Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor.
• The Rett syndrome: genetics and the future.
• Multiple cytogenetic aberrations in neurofibrosarcomas complicating neurofibromatosis.
• Apolipoprotein E synthesis in neurofibrosarcoma and schwannoma cell cultures from two individuals with neurofibromatosis.
• Discounting an adverse maternal effect on severity of neurofibromatosis.
• Neurofibromatosis and Albright's syndrome.
• Growth-promoting factors in neurofibroma crude extracts.
• Absent patellae, mild mental retardation, skeletal and genitourinary anomalies, and C group autosomal mosaicism.
• Letters and comments. "Deleted Y chromosome".
• Ring chromosome 15: phenotype, Ag-NOR analysis, secondary aneuploidy, and associated chromosome instability.
• Chromosomes, embryonal tumors, and birth defects.
• Genetic heterogeneity of aniridia: negative linkage data.
• Catalase levels in patients with aniridia and/or Wilms'' tumor: utility and limitations.
• Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.
• Neurofibromatosis in a patient with systemic lupus erythematosus.
• Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis.
• The pathophysiology of neurofibromatosis. II. Angiosarcoma as a complication.
• Neurofibromatosis heterogeneity.
• The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.
• Serum neuronal growth factor levels in von Recklinghausen's neurofibromatosis.
• von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata.
• Neurofibromatosis: oral and radiographic manifestations.
• Amniotic fluid concentrations of delta 5 and delta 4 steroids in fetuses with congenital adrenal hyperplasia due to 21 hydroxylase deficiency and in anencephalic fetuses.
• Premature centromere division.
• A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.
• Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia.
• Pathophysiology of neurofibromatosis. IV. Dermatologic insights into heterogeneity and pathogenesis.
• The pathophysiology of neurofibromatosis. I. Resistance in vitro to 3-nitrotyrosine as an expression of the mutation.
• Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata.
• Von Recklinghausen neurofibromatosis.
• Von Recklinghausen neurofibromatosis: new perspectives.
• Neurofibromatosis: an overview and new directions in clinical investigations.
• Characteristics of skin and tumor fibroblasts from neurofibromatosis patients.
• Problems in diagnosing neurofibromatosis.
• Cutaneous manifestation of neurofibromatosis: cellular interaction, pigmentation, and mast cells.
• Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome.
• Early manifestations of neurofibromatosis: diagnosis and management.
• Neurofibromatosis: clinical heterogeneity.
• Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.
• Hypomelanosis of Ito and ectrodactyly.
• Familial cavernous angiomas: natural history and genetic study over a 5-year period.
• Phenotype associated with ring 10 chromosome: report of patient and review of literature.
• Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.
• Chromosome translocations in couples with multiple spontaneous abortions.
• Duplication 11p11.3 leads to 14.1 to meiotic crossing--over.
• Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation.
• Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria.
• Two-step mutation theory for retinoblastoma: ultrastructural support.
• Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.
• An autosomal dominant inheritance for multiple sunlight-induced malignancy in a patient without abnormalities in DNA repair or replication. Repository identification N...
• Ocular abnormalities in neurofibromatosis 2.
• Skin, blood, nerve cells, and heritability. New lessons from neurofibromatosis type 1.
• Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients.
• Neurofibromatosis and related tumors. Natural occurrence and animal models.
• Familial multiple cafe au lait spots.
• Non-von Recklinghausen's neurofibromatosis presenting as hemifacial neurofibromas and contralateral café au lait spots.
• Neurofibromatosis. The importance of localized or otherwise atypical forms.
• Neuronal growth factors from tumours of Von Recklinghausen neurofibromatosis.
• Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen.
• Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.
• Von Recklinghausen neurofibromatosis: a linkage study of candidate and random marker genes.
• MR imaging of optic pathways in patients with neurofibromatosis.
• Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.
• Denervation in von Recklinghausen's neurofibromatosis (NF-1) leads to fewer and smaller neurofibromas.
• Neurofibromatosis: challenges for applied cellular and molecular biology.
• Controversy in the management of optic pathway gliomas. 29 patients treated with radiation therapy at Baylor College of Medicine from 1967 through 1987.
• Possible genetic etiology of damselfish neurofibromatosis: genetic differentiation of bicolor damselfish (Pomacentrus partitus) populations.
• NF is more than neurofibromas.
• Guidelines for organizing a comprehensive neurofibromatosis program.
• Routine cranial neuroimaging of patients with or at risk for neurofibromatosis.
• Expression of selected growth factors and oncogenes in neurofibrosarcomas complicating von Recklinghausen disease.
• The use of subchromosome-length unique band sequences in the analysis of prophase chromosomes.

Schools

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• Georgetown University

Doctors Specialties

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• Clinical Cytogenetics
• Clinical Genetics
• Internal Medicine
• Medical Genetics

Accepted Insurances

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Awards

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• Von Recklinghausen Award
• Founding Fellow
• Fellow

Education

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• Massachusetts General Hospital
• University of Pittsburgh Medical Center
• Georgetown University School of Medicine
• UCLA

Hospital

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• Ronald Reagan UCLA Medical Center

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