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Page 1
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
Alsagob M, Salih MA, Hamad MHA, Al-Yafee Y, Al-Zahrani J, Al-Bakheet A, Nester M, Sakati N, Wakil SM, AlOdaib A, Colak D, Kaya N. Alsagob M, et al. Among authors: colak d. Mol Cytogenet. 2019 May 18;12:21. doi: 10.1186/s13039-019-0432-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31131027 Free PMC article.
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Among authors: colak d. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.
ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.
Kaya N, Al-Muhsen S, Al-Saud B, Al-Bakheet A, Colak D, Al-Ghonaium A, Al-Dhekri H, Al-Mousa H, Arnaout R, Al-Owain M, Iqbal M. Kaya N, et al. Among authors: colak d. J Clin Immunol. 2011 Apr;31(2):245-52. doi: 10.1007/s10875-010-9488-0. Epub 2010 Dec 1. J Clin Immunol. 2011. PMID: 21120685
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N. Al-Owain M, et al. Among authors: colak d. Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21391991
240 results