Lisa Ann Schimmenti


Work Titles
UCLA Adjunct Assistant Professor, Pediatric Genetics
Education:
Fellowship:
1992 - 1995 University of Minnesota Hospital and Clinic
1991 - 1992 University of Minnesota Hospital and Clinic
1990 - 1991 Yale University School of Medicine
1989 - 1990 Harbor - UCLA Medical Center
Internship:
1986 - 1987 Harbor - UCLA Medical Center
Residency:
1987 - 1989 Harbor - UCLA Medical Center

Contact Information:

Publications:

A selected list of publications:

Chung, GW Edwards, AO Schimmenti, LA Manligas, GS Zhang, YH Ritter, R   Renal-coloboma syndrome: report of a novel PAX2 gene mutation American journal of ophthalmology. , 2001; 132(6): 910-4.
Abigail Gelb, Glenda S. Manligas, Salam Gaharibay, Lisa A. Schimmenti   Two new cSNPs in PAX2, Human Mutation , 2001; Human Mutation : 155.
Shim, HH Nakamura, BN Cantor, RM Schimmenti, LA   Identification of two single nucleotide polymorphisms in exon 8 of PAX2 Molecular genetics and metabolism. , 1999; 68(4): 507-10.
Schimmenti, LA Shim, HH Wirtschafter, JD Panzarino, VA Kashtan, CE Kirkpatrick, SJ Wargowski, DS France, TD Michel, E Dobyns, WB   Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome Human mutation. , 1999; 14(5): 369-76.
Micael R. Eccles and Lisa A. Schimmenti   Renal-coloboma syndrome; a multisystem disorder caused by PAX2 mutations, Clinical Genetics , 1999; 59: 1-9.
Lisa A. Schimmenti, Heather E. Cunliffe, Leslie A. McNoe, Teresa A. Ward, Michelle M. French, Heather H. Shim, Yao-Hua Zhang, Willem Proesmans, Anita Leys, Kyna A. Byerly, Stephen R. Braddock, Mitsuno Masuno, Kiyoshi Imaizumi, Koen Devriendt, Mich   Futher delineation of renal coloboma syndrome in patients with remarkable variability of phenotype and identical PAX2 mutations, American Journal of Human Genetics, 1997; 60: 869-878.
Schimmenti, LA Pierpont, ME Carpenter, BL Kashtan, CE Johnson, MR Dobyns, WB   Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies American journal of medical genetics. , 1995; 59(2): 204-8.
Lisa A. Schimmenti, Gwendolyn L. Blechert, Kevin W. Harris, John C. Winkelman   Localization of an essential ligand binding determinant of the erythropoietin receptor to a domain N-terminal to the WSXWS motif: implications for soluble receptor function, Experimental Hematology, 1995; 23: 1321-1346.
Phaikasame Sanyanusin, Lisa A. Schimmenti, Leslie McNoe, Theresa Ward, William B. Dobyns, Mary Ella Pierpont, Michael Sullivan, Michael R. Eccles   Mutation of the PAX2 Gene in a family with congenital optic nerve colobomas, and ureteral and renal anomalies, Nature Genetics, 1995; 9: 358-364.
Winkelmann, JC Ward, J Mayeux, P Lacombe, C Schimmenti, L Jenkins, RB   A translocated erythropoietin receptor gene in a human erythroleukemia cell line (TF-1) expresses an abnormal transcript and a truncated protein Blood. , 1995; 85(1): 179-85.
Silvestri, G Santorelli, FM Shanske, S Whitley, CB Schimmenti, LA Smith, SA DiMauro, S   A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy Human mutation. , 1994; 3(1): 37-43.
Schimmenti, LA Yan, HC Madri, JA Albelda, SM   Platelet endothelial cell adhesion molecule, PECAM-1, modulates cell migration Journal of cellular physiology. , 1992; 153(2): 417-28.

Does this profile need updating? Contact Us