Professor, Molecular and Medical Genetics, Oregon Health and Science University School of Medicine

Medical Genetics

Jonathan Zonana, MD works in the field of Medical Genetics. He studied medicine at Perelman School of Medicine at the University of Pennsylvania. Dr. Jonathan Zonana is also a published MD. He has 44 publication published. The most recent publication is: Inheritance of diabetes mellitus.

Publications

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• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
• Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
• Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections.
• Congenital Extrarenal Malignant Rhabdoid Tumor in an Infant With Distal 22q11.2 Deletion Syndrome: The Importance of SMARCB1.
• Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications.
• Macrocephaly with multiple lipomas and hemangiomas.
• Dominant inheritance of cerebral gigantism.
• Inheritance of diabetes mellitus.
• Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
• Heterogeneity of nonlethal severe short-limbed dwarfism.
• [The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation].
• Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.
• Abnormal hair, craniofacial dysmorphism, and severe mental retardation - a new syndrome?
• Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families.
• Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.
• Distal 19q duplication.
• High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.
• Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.
• Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis.
• Mutations in GJB6 cause hidrotic ectodermal dysplasia.
• Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
• Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis.
• Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.
• Searching for human epilepsy genes: a progress report.
• Macrocephaly with hamartomas: Bannayan-Zonana syndrome.
• Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).
• Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.
• Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctiona...
• Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.
• Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain.
• Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
• Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
• X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.
• Gene defect in ectodermal dysplasia implicates a death domain adapter in development.
• Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia.
• Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
• Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.
• A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).
• Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
• Clinical and genetic characterization of manifesting carriers of DMD mutations.
• Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
• Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II).
• Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations.

Schools

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• Perelman School of Medicine University of Pennsylvania

• L a Co Usc Med Center

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Education

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• University of Southern California - LAC+USC Medical Center
• Perelman School of Medicine at the University of Pennsylvania

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