Kim, Chong Ae

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., et al. (2001) · Cell

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 2,235

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Mavrogiannis, L. A., Antonopoulou, I., Baxová, A., Kutílek, S., Kim, C. A., Sugayama, S. M., Salamanca, A., Wall, S. A., Morriss-Kay, G. M., & Wilkie, A. O. M. (2001) · Nature Genetics

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 147

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics

Bone Metabolism and DiseasesConnective tissue disorders research

Cited by 133

Molecular screening for microdeletions at 9p22‐p24 and 11q23‐q24 in a large cohort of patients with trigonocephaly

Jehee, F., Johnson, D., Alonso, L., Cavalcanti, D., De Sá Moreira, E., Alberto, F., Kok, F., Kim, C., Wall, S., Jabs, E., et al. (2005) · Clinical Genetics

Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

Cited by 55

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Jehee, F. S., Krepischi-Santos, A. C. V., Rocha, K. M., Cavalcanti, D. P., Kim, C. A., Bertola, D. R., Alonso, L. G., D’Angelo, C. S., Mazzeu, J. F., Froyen, G., et al. (2008) · Journal of Medical Genetics

Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

Cited by 41

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Pereira, F. D. S., Matte, U., Habekost, C. T., Castilhos, R. M. D., El Husny, A. S., Lourenço, C. M., Vianna-Morgante, A. M., Giuliani, L., Galera, M. F., Honjo, R., et al. (2012) · PLoS ONE

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 30

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

Bonamichi, B. D. S. F., Santiago, S. L. M., Bertola, D. R., Kim, C. A., Alonso, N., Mendonca, B. B., Bachega, T. A. S. S., & Gomes, L. G. (2016) · Archives of Endocrinology and Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 19