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Jonathan Zonana
Jonathan Zonana, American paediatrician and medical geneticist.
Associated eponyms:
Bannayan's syndrome
A very rare familial disease with a predilection in males. It manifests with symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth retardation.
Biography:
Jonathan Zonana graduated M.D. from University of Pennsylvania Medical School, Philadelphia, in 1972. He is (2001) Professor of Pediatrics, Professor & Vice Chair, Molecular & Medical Genetics, Oregon Health & Science University.
With his co-investigator, Betsy Ferguson, Jonathan Zonana has done extensive work in the mapping and cloning of genes critical to normal human development.
"My interests in clinical genetics have focused on problems of disordered morphogenesis (dysmorphology). The etiology and pathophysiology of many malformations are beginning to be understood at a molecular level. Our specific area of research is on the ectodermal dysplasias, a group of genetic disorders involving abnormal development of hair, teeth and eccrine sweat glands."
Bibliography:
- A.W. Monreal, B.M. Ferguson, D.J. Headon, S. Street, P.A. Overbeek, and J. Zonana:
Mutations in the human homolog of the murine dl gene cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
Nature Genetics, 1999, 22, 366-369.
- J. Lamartine, G. Munhoz Essenfelder, Z. Kibar, I. Lanneluc, E. Callouet, D. Laoudj, G. Lemaitre, C. Hand, S..J. Hayflick, J. Zonana, S. Antonarakis, U. Radhakrishna, D.P. Kelsell, A.L. Christianson, A. Pitavel, V. Der Kaloustian, C. Fraser, C. Blanchet-Bardon, G.A. Rouleau, and G. Waksman:
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
Nature Genetics, 2000, 26(2), 142-144.
- J. Zonana, M. E. Elder, L. C. Schneider, S. J. Orlow, C. Moss, M. Golabi, S. K. Shapira, P. A. Farndon, D. W. Wara, S. A. Emmal, and B. M. Ferguson:
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).
American Journal of Human Genetics, Chicago, 2000.
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