Brief Biography

Dr. Mendoza obtained his Medical and Master's degree in Biology with emphasis in Human Genetics degree from the Pontificia Universidad Javeriana in Bogotá, Colombia. He completed a residency in paediatrics at the State University of New York in Brooklyn and a fellowship in clinical and metabolic genetics at Baylor College of Medicine in Houston Texas. Dr. Mendoza has a long standing interest in the genetics of skeletal dysplasias and inherited bone disorders.

Clinical Care Activities

As a member of the clinical team at The Hospital for Sick Children I am working on developing a Skeletal Dysplasias and Inherited bone disorders clinic. We have a multidisciplinary team of health professionals interested in providing the best evaluation and care to patients with skeletal defects.

Research Interests

• Collaborative research on the genetic basis and natural history of skeletal dysplasias and inherited bone disorders
• Mapping of genes that participate in membranous bone development, in particular the genes responsible for the CDAGS and Yunis-Varon syndromes

Research Activities

Co-investigator in the research project Clinical Characterization of families with Juvenile Idiopathic Osteoporosis, lead by Dr. Etienne Sochett.

Publications

Mendoza-Londono R., Lammer E., Watson R., Harper J., Hatamochi A., Hatamochi S., Napierala D., Hermanns P., Collins S., Roa B, Hedge MR, Wakui K., Nguyen D., Stockton DW and Lee B. Characterization of a new syndrome associating craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus and skin eruption- CDAGS. Am J Hum Genet. 2005 Jul;77(1):161-8

Mendoza-Londono R, Kashork C.D., Shaffer L.G., Krance R. and Plon S. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1/IKAROS genes. Genes Chromosomes Cancer. 2005 Jan;42(1):82-6

Napierala D., Garcia-Rojas X., Sam K., Wakui K., Chen C., Mendoza-Londono R., Zhou G., Zheng Q. and Lee B. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab. 2005 Sep-Oct;86(1-2):257-68.

Brunetti-Pierri N., Mendoza-Londono R., Shah M.R., Karaviti, Lee B. Von Voss-Cherstvoy Syndrome with Transient Thrombocytopenia and Normal Psychomotor Development. Am J Med Genet. 2004 Apr 30;126A(3):299-302

Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono R, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002 Oct 15;112(3):291-6.

Yatsenko SA, Sahoo T, Rosenkranz M, Mendoza-Londono R, Naeem R, Scaglia F.Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].
Am J Med Genet A. 2004 Jul 1;128(1):72-7.

Mendoza-Londono R, Hiriyanna KT, Bingham EL, Rodriguez F, Shastry BS, Rodriguez A, Sieving PA, Tamayo ML.A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. Ophthalmic Genet. 1999 Mar;20(1):37-43.