Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting

Autor: Ming, J. E., Blagowidow, N., Knoll, J. H., Rollings, L., Fortina, Paolo, Mcdonald Mcginn, D. M., Spinner, N. B., Zackai, E. H.

Publikováno v: American journal of medical genetics. 92(1)

The Prader-Willi syndrome (PWS) critical region on 15q11-q13 is subject to imprinting. PWS becomes apparent when genes on the paternally inherited chromosome are not expressed. Familial PWS is rare. We report on a family in which a male and a female

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::73427688c1e3a2dfb6811e9e23fb8195
https://pubmed.ncbi.nlm.nih.gov/10797418

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.

Autor: Stanley, Charles A., Fang, Jie, Kutyna, Karen, Hsu, Betty Y.L., Ming, Jeffrey E., Glaser, Ben, Poncz, Mortimer, Stanley, C A, Fang, J, Kutyna, K, Hsu, B Y, Ming, J E, Glaser, B, Poncz, M

Publikováno v: Diabetes; Apr2000, Vol. 49 Issue 4, p667-673, 7p, 3 Charts, 3 Graphs

The Philadelphia story: The 22q11.2 deletion: Report on 250 patients

Autor: Donna McDonald-McGinn, Kirschner, R., Goldmuntz, E., Sullivan, K., Eicher, P., Gerdes, M., Moss, E., Solot, C., Wang, P., Jacobs, I., Handler, S., Knightly, C., Heher, K., Wilson, M., Ming, J. E., Grace, K., Driscoll, D., Pasquariello, P., Randall, P., Larossa, D., Emanuel, B. S., Zackai, E. H.

Publikováno v: Scopus-Elsevier

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8dfd24f47fb30089d1f4648fbf70f7b4
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033033492&partnerID=MN8TOARS

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Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Autor: Russell KL; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA., Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID

Publikováno v: American journal of medical genetics [Am J Med Genet] 2001 Dec 15; Vol. 104 (4), pp. 267-76.