Temtamy, Samia

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G., Ten Kate, L. P., Bennett, R. L., Shaw, A., Megarbane, A., van Duijn, C., et al. (2011) · Genetics in Medicine

Marriage and Family DynamicsGenomics and Rare Diseases

Cited by 345

LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome

Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nürnberg, G., Cenani, A., et al. (2010) · The American Journal of Human Genetics

Congenital limb and hand anomaliesWnt/β-catenin signaling in development and cancer

Cited by 171

Brachydactyly

Temtamy, S. A., & Aglan, M. S. (2008) · Orphanet Journal of Rare Diseases

Congenital limb and hand anomaliesConnective tissue disorders research

Cited by 158

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

Doyard, M., Bacrot, S., Huber, C., Di Rocco, M., Goldenberg, A., Aglan, M. S., Brunelle, P., Temtamy, S., Michot, C., Otaify, G. A., et al. (2018) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 75

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Caparrós-Martín, J. A., De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G. A., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J.-L., et al. (2015) · Human Molecular Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 57