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Ring chromosome 8 syndrome: further characterization.
Tonk VS, Kukolich MK, Morgan D, Khan A, Jalal SM. Tonk VS, et al. Among authors: jalal sm. Am J Med Genet. 2000 Jan 17;90(2):162-4. doi: 10.1002/(sici)1096-8628(20000117)90:2<162::aid-ajmg14>3.0.co;2-#. Am J Med Genet. 2000. PMID: 10607957
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. Velagaleti GV, et al. Among authors: jalal sm. Am J Hum Genet. 2005 Apr;76(4):652-62. doi: 10.1086/429252. Epub 2005 Feb 22. Am J Hum Genet. 2005. PMID: 15726498 Free PMC article.
De novo 16p deletion: ATR-16 syndrome.
Lindor NM, Valdes MG, Wick M, Thibodeau SN, Jalal S. Lindor NM, et al. Am J Med Genet. 1997 Nov 12;72(4):451-4. Am J Med Genet. 1997. PMID: 9375730
121 results